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    ASPH aspartate beta-hydroxylase [ Homo sapiens (human) ]

    Gene ID: 444, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ASPHprovided by HGNC
    Official Full Name
    aspartate beta-hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:757
    See related
    Ensembl:ENSG00000198363 MIM:600582; AllianceGenome:HGNC:757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1
    Summary
    This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
    Expression
    Broad expression in fat (RPKM 85.5), adrenal (RPKM 27.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASPH in Genome Data Viewer
    Location:
    8q12.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (61500556..61714592, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (61924301..62138323, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62413115..62627151, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene clavesin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62185690-62186311 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62186312-62186932 Neighboring gene nucleophosmin 1 pseudogene 6 Neighboring gene uncharacterized LOC105375870 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62279520-62280036 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62335334-62335851 Neighboring gene Sharpr-MPRA regulatory region 11405 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:62392811-62393004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27447 Neighboring gene keratin 8 pseudogene 3 Neighboring gene RN7SK pseudogene 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19236 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62634171-62635370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19237 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62672336-62673535 Neighboring gene HNF1 motif-containing MPRA enhancer 71 Neighboring gene microRNA 4470 Neighboring gene uncharacterized LOC105375871 Neighboring gene long intergenic non-protein coding RNA 2842

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome. Jones G, et al. Eur J Med Genet, 2022 Oct. PMID 35918038
    2. Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage. Zhu H, et al. Appl Immunohistochem Mol Morphol, 2021 Nov-Dec 01. PMID 34433181
    3. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Van Hoorde T, et al. Ophthalmic Genet, 2021 Aug. PMID 34018898
    4. Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active. Brasnett A, et al. Angew Chem Int Ed Engl, 2021 Jun 21. PMID 33887099, Free PMC Article
    5. Characterization of the Relationship Between the Expression of Aspartate β-Hydroxylase and the Pathological Characteristics of Breast Cancer. Zhang Y, et al. Med Sci Monit, 2020 Dec 31. PMID 33380715, Free PMC Article

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.
      Title: Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.
    2. Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.
      Title: Aspartate β-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.
    3. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
      Title: Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
    4. Overexpression of Human Aspartyl (Asparaginyl) beta-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.
      Title: Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.
    5. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
      Title: Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
    6. Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.
      Title: Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.
    7. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
      Title: A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
    8. Diverse molecular functions of aspartate betahydroxylase in cancer (Review).
      Title: Diverse molecular functions of aspartate β‑hydroxylase in cancer (Review).
    9. Aspartate beta-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1alpha/GSK3beta crosstalk.
      Title: Aspartate β-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1α/GSK3β crosstalk.
    10. Characterization of the Relationship Between the Expression of Aspartate beta-Hydroxylase and the Pathological Characteristics of Breast Cancer.
      Title: Characterization of the Relationship Between the Expression of Aspartate β-Hydroxylase and the Pathological Characteristics of Breast Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ASPH; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables peptidyl-aspartic acid 3-dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-aspartic acid hydroxylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cortical endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartyl/asparaginyl beta-hydroxylase
    Names
    A beta H-J-J
    ASP beta-hydroxylase
    cardiac junctin
    humbug
    junctate
    peptide-aspartate beta-dioxygenase
    NP_001158222.1
    NP_001158223.1
    NP_001158224.1
    NP_001158225.1
    NP_001158226.1
    NP_001158227.1
    NP_001158228.1
    NP_001400773.1
    NP_001400774.1
    NP_001400775.1
    NP_001400776.1
    NP_001400777.1
    NP_001400778.1
    NP_001400779.1
    NP_001400780.1
    NP_001400781.1
    NP_001400782.1
    NP_001400783.1
    NP_001400784.1
    NP_001400785.1
    NP_001400786.1
    NP_001400787.1
    NP_001400788.1
    NP_001400789.1
    NP_001400790.1
    NP_001400791.1
    NP_001400792.1
    NP_001400793.1
    NP_001400794.1
    NP_001400795.1
    NP_001400796.1
    NP_001400797.1
    NP_001400798.1
    NP_001400799.1
    NP_001400800.1
    NP_001400801.1
    NP_001400802.1
    NP_001400803.1
    NP_001400804.1
    NP_001400805.1
    NP_001400806.1
    NP_001400807.1
    NP_001400808.1
    NP_001400809.1
    NP_001400810.1
    NP_001400811.1
    NP_001400812.1
    NP_001400813.1
    NP_001400814.1
    NP_001400815.1
    NP_001400816.1
    NP_001400817.1
    NP_001400818.1
    NP_001400819.1
    NP_001400820.1
    NP_001400822.1
    NP_001400823.1
    NP_001400824.1
    NP_001400825.1
    NP_001400826.1
    NP_001400827.1
    NP_001400828.1
    NP_001400829.1
    NP_001400830.1
    NP_001400831.1
    NP_001400832.1
    NP_001400833.1
    NP_001400834.1
    NP_001400835.1
    NP_001400836.1
    NP_001400837.1
    NP_001400838.1
    NP_004309.2
    NP_064549.1
    NP_115855.1
    NP_115856.1
    NP_115857.1
    XP_005251301.1
    XP_016868908.1
    XP_016868909.1
    XP_016868915.1
    XP_016868916.1
    XP_016868919.1
    XP_016868920.1
    XP_016868924.1
    XP_016868928.1
    XP_016868929.1
    XP_016868933.1
    XP_024302925.1
    XP_024302926.1
    XP_024302927.1
    XP_047277747.1
    XP_047277748.1
    XP_047277749.1
    XP_054216456.1
    XP_054216457.1
    XP_054216458.1
    XP_054216459.1
    XP_054216460.1
    XP_054216461.1
    XP_054216462.1
    XP_054216463.1
    XP_054216464.1
    XP_054216465.1
    XP_054216466.1
    XP_054216467.1
    XP_054216468.1
    XP_054216469.1
    XP_054216470.1
    XP_054216471.1
    XP_054216472.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013210.1 RefSeqGene

      Range
      5049..219085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164750.2 → NP_001158222.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus, compared to isoform a. This isoform includes the beta-hydroxylase domain found in isoform a and is likely to have catalytic activity.
      Source sequence(s)
      AC090094, AF339775, AK304314, BC025236, DN993915, S83325
      Consensus CDS
      CCDS55234.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000437864.1, ENST00000541428.5
      Conserved Domains (5) summary
      TIGR02795
      Location:313 → 426
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:14 → 281
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:429 → 453
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:562 → 715
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:316 → 355
      TPR_14; Tetratricopeptide repeat

    2. NM_001164751.2 → NP_001158223.1  aspartyl/asparaginyl beta-hydroxylase isoform 7

      See identical proteins and their annotated locations for NP_001158223.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (g) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, BC144362, BU623111, DN993915
      Consensus CDS
      CCDS55236.1
      UniProtKB/TrEMBL
      E5RG56
      Related
      ENSP00000430245.1, ENST00000517903.5
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 295
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    3. NM_001164752.2 → NP_001158224.1  aspartyl/asparaginyl beta-hydroxylase isoform 8

      See identical proteins and their annotated locations for NP_001158224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, lacks an alternate in-frame exon, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (h) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, BC144363, BU623111, DN993915
      UniProtKB/TrEMBL
      B4DQ07, B7ZM96
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 276
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    4. NM_001164753.2 → NP_001158225.1  aspartyl/asparaginyl beta-hydroxylase isoform 9

      See identical proteins and their annotated locations for NP_001158225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (i) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
      Source sequence(s)
      AC067881, AK295528, BU623111, DN993915
      Consensus CDS
      CCDS55235.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000429160.1, ENST00000522835.5
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 253
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    5. NM_001164754.2 → NP_001158226.1  aspartyl/asparaginyl beta-hydroxylase isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (j) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC067881, AK298577, BU623111, DA136318
      Consensus CDS
      CCDS75746.1
      UniProtKB/TrEMBL
      Q6PJH4
      Related
      ENSP00000394013.4, ENST00000445642.6
      Conserved Domains (1) summary
      pfam05279
      Location:43 → 291
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    6. NM_001164755.2 → NP_001158227.1  aspartyl/asparaginyl beta-hydroxylase isoform 11

      See identical proteins and their annotated locations for NP_001158227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (k) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC067881, BC025236, BU623111
      Consensus CDS
      CCDS55237.1
      UniProtKB/TrEMBL
      A8K721
      Related
      ENSP00000429286.1, ENST00000518068.5
      Conserved Domains (1) summary
      pfam05279
      Location:43 → 267
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    7. NM_001164756.2 → NP_001158228.1  aspartyl/asparaginyl beta-hydroxylase isoform 12

      See identical proteins and their annotated locations for NP_001158228.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) includes an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (l) includes an alternate segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC066929, BU741737, DA136318
      Consensus CDS
      CCDS55238.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000368762.5, ENST00000379449.11
      Conserved Domains (1) summary
      pfam05279
      Location:43 → 146
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    8. NM_001413844.1 → NP_001400773.1  aspartyl/asparaginyl beta-hydroxylase isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    9. NM_001413845.1 → NP_001400774.1  aspartyl/asparaginyl beta-hydroxylase isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    10. NM_001413846.1 → NP_001400775.1  aspartyl/asparaginyl beta-hydroxylase isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    11. NM_001413847.1 → NP_001400776.1  aspartyl/asparaginyl beta-hydroxylase isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    12. NM_001413848.1 → NP_001400777.1  aspartyl/asparaginyl beta-hydroxylase isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    13. NM_001413849.1 → NP_001400778.1  aspartyl/asparaginyl beta-hydroxylase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    14. NM_001413850.1 → NP_001400779.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    15. NM_001413851.1 → NP_001400780.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    16. NM_001413852.1 → NP_001400781.1  aspartyl/asparaginyl beta-hydroxylase isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    17. NM_001413853.1 → NP_001400782.1  aspartyl/asparaginyl beta-hydroxylase isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    18. NM_001413854.1 → NP_001400783.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    19. NM_001413855.1 → NP_001400784.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    20. NM_001413856.1 → NP_001400785.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    21. NM_001413857.1 → NP_001400786.1  aspartyl/asparaginyl beta-hydroxylase isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    22. NM_001413858.1 → NP_001400787.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    23. NM_001413859.1 → NP_001400788.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    24. NM_001413860.1 → NP_001400789.1  aspartyl/asparaginyl beta-hydroxylase isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    25. NM_001413861.1 → NP_001400790.1  aspartyl/asparaginyl beta-hydroxylase isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    26. NM_001413862.1 → NP_001400791.1  aspartyl/asparaginyl beta-hydroxylase isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    27. NM_001413863.1 → NP_001400792.1  aspartyl/asparaginyl beta-hydroxylase isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    28. NM_001413864.1 → NP_001400793.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    29. NM_001413865.1 → NP_001400794.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    30. NM_001413866.1 → NP_001400795.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    31. NM_001413867.1 → NP_001400796.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    32. NM_001413868.1 → NP_001400797.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    33. NM_001413869.1 → NP_001400798.1  aspartyl/asparaginyl beta-hydroxylase isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    34. NM_001413870.1 → NP_001400799.1  aspartyl/asparaginyl beta-hydroxylase isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    35. NM_001413871.1 → NP_001400800.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    36. NM_001413872.1 → NP_001400801.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    37. NM_001413873.1 → NP_001400802.1  aspartyl/asparaginyl beta-hydroxylase isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    38. NM_001413874.1 → NP_001400803.1  aspartyl/asparaginyl beta-hydroxylase isoform 33

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    39. NM_001413875.1 → NP_001400804.1  aspartyl/asparaginyl beta-hydroxylase isoform 34

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    40. NM_001413876.1 → NP_001400805.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    41. NM_001413877.1 → NP_001400806.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    42. NM_001413878.1 → NP_001400807.1  aspartyl/asparaginyl beta-hydroxylase isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    43. NM_001413879.1 → NP_001400808.1  aspartyl/asparaginyl beta-hydroxylase isoform 37

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    44. NM_001413880.1 → NP_001400809.1  aspartyl/asparaginyl beta-hydroxylase isoform 38

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    45. NM_001413881.1 → NP_001400810.1  aspartyl/asparaginyl beta-hydroxylase isoform 39

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    46. NM_001413882.1 → NP_001400811.1  aspartyl/asparaginyl beta-hydroxylase isoform 40

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    47. NM_001413883.1 → NP_001400812.1  aspartyl/asparaginyl beta-hydroxylase isoform 41

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    48. NM_001413884.1 → NP_001400813.1  aspartyl/asparaginyl beta-hydroxylase isoform 42

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    49. NM_001413885.1 → NP_001400814.1  aspartyl/asparaginyl beta-hydroxylase isoform 43

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    50. NM_001413886.1 → NP_001400815.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    51. NM_001413887.1 → NP_001400816.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    52. NM_001413888.1 → NP_001400817.1  aspartyl/asparaginyl beta-hydroxylase isoform 45

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    53. NM_001413889.1 → NP_001400818.1  aspartyl/asparaginyl beta-hydroxylase isoform 46

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    54. NM_001413890.1 → NP_001400819.1  aspartyl/asparaginyl beta-hydroxylase isoform 47

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    55. NM_001413891.1 → NP_001400820.1  aspartyl/asparaginyl beta-hydroxylase isoform 48

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    56. NM_001413893.1 → NP_001400822.1  aspartyl/asparaginyl beta-hydroxylase isoform 49

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    57. NM_001413894.1 → NP_001400823.1  aspartyl/asparaginyl beta-hydroxylase isoform 50

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    58. NM_001413895.1 → NP_001400824.1  aspartyl/asparaginyl beta-hydroxylase isoform 51

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    59. NM_001413896.1 → NP_001400825.1  aspartyl/asparaginyl beta-hydroxylase isoform 52

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    60. NM_001413897.1 → NP_001400826.1  aspartyl/asparaginyl beta-hydroxylase isoform 53

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    61. NM_001413898.1 → NP_001400827.1  aspartyl/asparaginyl beta-hydroxylase isoform 54

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    62. NM_001413899.1 → NP_001400828.1  aspartyl/asparaginyl beta-hydroxylase isoform 55

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    63. NM_001413900.1 → NP_001400829.1  aspartyl/asparaginyl beta-hydroxylase isoform 56

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    64. NM_001413901.1 → NP_001400830.1  aspartyl/asparaginyl beta-hydroxylase isoform 58

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    65. NM_001413902.1 → NP_001400831.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC067881

    66. NM_001413903.1 → NP_001400832.1  aspartyl/asparaginyl beta-hydroxylase isoform 59

      Status: REVIEWED

      Source sequence(s)
      AC067881

    67. NM_001413904.1 → NP_001400833.1  aspartyl/asparaginyl beta-hydroxylase isoform 60

      Status: REVIEWED

      Source sequence(s)
      AC067881

    68. NM_001413905.1 → NP_001400834.1  aspartyl/asparaginyl beta-hydroxylase isoform 61

      Status: REVIEWED

      Source sequence(s)
      AC067881

    69. NM_001413906.1 → NP_001400835.1  aspartyl/asparaginyl beta-hydroxylase isoform 62

      Status: REVIEWED

      Source sequence(s)
      AC067881

    70. NM_001413907.1 → NP_001400836.1  aspartyl/asparaginyl beta-hydroxylase isoform 63

      Status: REVIEWED

      Source sequence(s)
      AC067881

    71. NM_001413908.1 → NP_001400837.1  aspartyl/asparaginyl beta-hydroxylase isoform 64

      Status: REVIEWED

      Source sequence(s)
      AC067881
      Related
      ENSP00000427877.1, ENST00000518306.5

    72. NM_001413909.1 → NP_001400838.1  aspartyl/asparaginyl beta-hydroxylase isoform 57

      Status: REVIEWED

      Source sequence(s)
      AC067881, AC090094

    73. NM_004318.4 → NP_004309.2  aspartyl/asparaginyl beta-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_004309.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. The distinct C-terminus of this isoform has enzymatic activity which hydroxylates the beta carbon of aspartic acid or asparagine residues in certain epidermal growth factor-like domains of proteins such as protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
      Source sequence(s)
      AC067881, AC090094, S83325, U03109
      Consensus CDS
      CCDS34898.1
      UniProtKB/Swiss-Prot
      A0A0A0MSK8, A6NDF4, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q12797, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
      Related
      ENSP00000368767.4, ENST00000379454.9
      Conserved Domains (5) summary
      TIGR02795
      Location:342 → 455
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:43 → 310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:458 → 482
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:591 → 744
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:345 → 384
      TPR_14; Tetratricopeptide repeat

    74. NM_020164.5 → NP_064549.1  aspartyl/asparaginyl beta-hydroxylase isoform 5

      See identical proteins and their annotated locations for NP_064549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (e) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin isoform 1 and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
      Source sequence(s)
      AC067881, AF224469, BX102882, DN993915
      Consensus CDS
      CCDS34900.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000373856.4, ENST00000389204.9
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 205
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    75. NM_032466.4 → NP_115855.1  aspartyl/asparaginyl beta-hydroxylase isoform 3

      See identical proteins and their annotated locations for NP_115855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (c), also known as humbug, is identical to the N-terminal and central region of isoform a. Because this transcript variant lacks the alternative 3' terminal exon which encodes a catalytic domain for isoform a, isoform c is considered a noncatalytic isoform. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
      Source sequence(s)
      AC067881, AF289489, BC025236, BU623111
      Consensus CDS
      CCDS43742.1
      UniProtKB/TrEMBL
      A8K721
      Related
      ENSP00000348841.5, ENST00000356457.9
      Conserved Domains (1) summary
      pfam05279
      Location:43 → 310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    76. NM_032467.4 → NP_115856.1  aspartyl/asparaginyl beta-hydroxylase isoform 4

      See identical proteins and their annotated locations for NP_115856.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (d) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a, but lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
      Source sequence(s)
      AC067881, AF224468, BX102882, DN993915
      Consensus CDS
      CCDS34899.1
      UniProtKB/Swiss-Prot
      Q12797
      Related
      ENSP00000436188.1, ENST00000522603.5
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 190
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    77. NM_032468.5 → NP_115857.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

      See identical proteins and their annotated locations for NP_115857.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (b) shares residues with the central region of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. Isoform b has also been referred to as junctate and is located in both the endoplasmic and sarcoplasmic reticulum. Calcium binding properties of this isoform suggest an active role in the calcium storage and release process in the endoplasmic reticulum. This variant is expressed in heart, brain, pancreas, placenta, lung, liver, kidney, and skeletal muscle tissues.
      Source sequence(s)
      AC067881, AF306765, BU623111, DN993915
      Consensus CDS
      CCDS47866.1
      UniProtKB/TrEMBL
      E5RG56
      Related
      ENSP00000429954.2, ENST00000517847.7
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 296
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      61500556..61714592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013430.2 → XP_016868919.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    2. XM_017013420.2 → XP_016868909.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    3. XM_017013419.2 → XP_016868908.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    4. XM_017013444.2 → XP_016868933.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    5. XM_047421791.1 → XP_047277747.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    6. XM_017013439.2 → XP_016868928.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    7. XM_017013431.2 → XP_016868920.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    8. XM_017013440.2 → XP_016868929.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    9. XM_005251244.2 → XP_005251301.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

      Conserved Domains (5) summary
      TIGR02795
      Location:308 → 421
      tol_pal_ybgF; tol-pal system protein YbgF
      pfam05279
      Location:14 → 276
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:424 → 448
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:557 → 710
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:311 → 350
      TPR_14; Tetratricopeptide repeat

    10. XM_017013435.2 → XP_016868924.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    11. XM_017013427.2 → XP_016868916.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    12. XM_017013426.2 → XP_016868915.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    13. XM_047421793.1 → XP_047277749.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    14. XM_047421792.1 → XP_047277748.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    15. XM_024447157.2 → XP_024302925.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

      UniProtKB/TrEMBL
      B3GQE5
      Conserved Domains (1) summary
      pfam05279
      Location:43 → 310
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    16. XM_024447158.2 → XP_024302926.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

      UniProtKB/TrEMBL
      B3GQE5
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 281
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    17. XM_024447159.2 → XP_024302927.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

      UniProtKB/TrEMBL
      G3XAN5
      Related
      ENSP00000428060.1, ENST00000517661.5
      Conserved Domains (1) summary
      pfam05279
      Location:14 → 117
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      61924301..62138323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360485.1 → XP_054216460.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    2. XM_054360482.1 → XP_054216457.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    3. XM_054360481.1 → XP_054216456.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    4. XM_054360492.1 → XP_054216467.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    5. XM_054360491.1 → XP_054216466.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    6. XM_054360488.1 → XP_054216463.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    7. XM_054360486.1 → XP_054216461.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    8. XM_054360489.1 → XP_054216464.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    9. XM_054360490.1 → XP_054216465.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

    10. XM_054360487.1 → XP_054216462.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    11. XM_054360484.1 → XP_054216459.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    12. XM_054360483.1 → XP_054216458.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    13. XM_054360496.1 → XP_054216471.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    14. XM_054360494.1 → XP_054216469.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    15. XM_054360493.1 → XP_054216468.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    16. XM_054360495.1 → XP_054216470.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    17. XM_054360497.1 → XP_054216472.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

      UniProtKB/TrEMBL
      G3XAN5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12797.3 GenPept UniProtKB/Swiss-Prot:Q12797

    Gene LinkOut

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