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    CAMK1D calcium/calmodulin dependent protein kinase ID [ Homo sapiens (human) ]

    Gene ID: 57118, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CAMK1Dprovided by HGNC
    Official Full Name
    calcium/calmodulin dependent protein kinase IDprovided by HGNC
    Primary source
    HGNC:HGNC:19341
    See related
    Ensembl:ENSG00000183049 MIM:607957; AllianceGenome:HGNC:19341
    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
    CKLiK; CaM-K1; CaMKID
    Summary
    This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
    Expression
    Broad expression in brain (RPKM 10.9), skin (RPKM 4.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10p13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12349547..12835545)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12360834..12849903)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12391546..12877545)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12267705-12268640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12268641-12269574 Neighboring gene FOXA motif-containing MPRA enhancer 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2139 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:12306176-12306714 Neighboring gene cell division cycle 123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365022-12365522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365523-12366023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2143 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:12391861-12392360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2144 Neighboring gene RNA, 7SL, cytoplasmic 198, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12430241-12430740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12430790-12431290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3042 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:12490405-12491604 Neighboring gene RNA, U6atac small nuclear 39, pseudogene Neighboring gene uncharacterized LOC107984209 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:12524423-12525029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12531623-12532583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12594952-12595452 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:12595691-12595888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12680729-12681229 Neighboring gene microRNA 4480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3048 Neighboring gene Sharpr-MPRA regulatory region 13393 Neighboring gene microRNA 4481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:12781907-12782408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:12782409-12782908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:12808306-12808806 Neighboring gene microRNA 548q Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12830027-12830528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12830529-12831028 Neighboring gene NANOG hESC enhancer GRCh37_chr10:12838401-12838902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12845476-12845976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12845977-12846477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12849244-12849744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12860895-12861500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12861501-12862105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12862106-12862710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12891157-12891656 Neighboring gene uncharacterized LOC105376418 Neighboring gene 10p13 CCDC3 distal Alu-mediated recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12958041-12958581 Neighboring gene RNA, 5S ribosomal pseudogene 300 Neighboring gene coiled-coil domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13042842-13043342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13043343-13043843 Neighboring gene 10p13 CCDC3 medial Alu-mediated recombination region Neighboring gene NANOG hESC enhancer GRCh37_chr10:13091983-13092484 Neighboring gene ribosomal protein L5 pseudogene 25

    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. Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study. Frau F, et al. Pharmacogenomics, 2014 Sep. PMID 25410890
    2. Analysis of protein-protein interaction network in chronic obstructive pulmonary disease. Yuan YP, et al. Genet Mol Res, 2014 Oct 31. PMID 25366777
    3. Investigation into the promoter DNA methylation of three genes (CAMK1D, CRY2 and CALM2) in the peripheral blood of patients with type 2 diabetes. Cheng J, et al. Exp Ther Med, 2014 Aug. PMID 25009623, Free PMC Article
    4. CAMK1D amplification implicated in epithelial-mesenchymal transition in basal-like breast cancer. Bergamaschi A, et al. Mol Oncol, 2008 Dec. PMID 19383354, Free PMC Article
    5. CAMK1D Triggers Immune Resistance of Human Tumor Cells Refractory to Anti-PD-L1 Treatment. Volpin V, et al. Cancer Immunol Res, 2020 Sep. PMID 32665263

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircPRKCI regulates proliferation, migration and cycle of lung adenocarcinoma cells by targeting miR-219a-5p-regulated CAMK1D.
      Title: CircPRKCI regulates proliferation, migration and cycle of lung adenocarcinoma cells by targeting miR-219a-5p-regulated CAMK1D.
    2. Associations of SUCNR1, GRK4, CAMK1D gene polymorphisms and the susceptibility of type 2 diabetes mellitus and essential hypertension in a northern Chinese Han population.
      Title: Associations of SUCNR1, GRK4, CAMK1D gene polymorphisms and the susceptibility of type 2 diabetes mellitus and essential hypertension in a northern Chinese Han population.
    3. CAMK1D Triggers Immune Resistance of Human Tumor Cells Refractory to Anti-PD-L1 Treatment.
      Title: CAMK1D Triggers Immune Resistance of Human Tumor Cells Refractory to Anti-PD-L1 Treatment.
    4. Cross-talk between eIF5A and CAMK1D enhances proliferation.
      Title: Eukaryotic initiation factor 5A and Ca(2+) /calmodulin-dependent protein kinase 1D modulate trophoblast cell function.
    5. There were no statistically significant differences in the distribution of CDC123/CAMK1D rs12779790 genotypes and alleles between women with gestational diabetes mellitus and healthy pregnant women.
      Title: CDC123/CAMK1D gene rs12779790 polymorphism and rs10811661 polymorphism upstream of the CDKN2A/2B gene in women with gestational diabetes.
    6. identified the CAMK1D gene as a novel locus associated with blood pressure response to losartan
      Title: Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study.
    7. Substantiation of the roles of CAMK1D and CDKAL1 in gluconeogenic and glyconeogenic pathways in primary human hepatocytes.
      Title: RNAi screening in primary human hepatocytes of genes implicated in genome-wide association studies for roles in type 2 diabetes identifies roles for CAMK1D and CDKAL1, among others, in hepatic glucose regulation.
    8. Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1).
      Title: Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
    9. A significant association of rs10906115 in CDC123/CAMK1D and rs1359790 near SPRY2 was identified with type 2 diabetes in a Japanese population.
      Title: Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population.
    10. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog
    Identification of new genetic risk variants for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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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    Replication interactions

    Interaction Pubs
    Knockdown of calcium/calmodulin-dependent protein kinase ID (CAMK1D) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin-dependent protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of CREB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of neutrophil chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of granulocyte chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    calcium/calmodulin-dependent protein kinase type 1D
    Names
    CAMK1D/ANAPC5 fusion
    CaM kinase ID
    CamKI-like protein kinase
    caM kinase I delta
    caM-KI delta
    caMKI delta
    NP_001337961.1
    NP_065130.1
    NP_705718.1
    XP_006717545.1
    XP_006717546.1
    XP_011517893.1
    XP_011517894.1
    XP_011517895.1
    XP_011517897.1
    XP_047281493.1
    XP_054222341.1
    XP_054222342.1
    XP_054222343.1
    XP_054222344.1
    XP_054222345.1
    XP_054222346.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001351032.2 → NP_001337961.1  calcium/calmodulin-dependent protein kinase type 1D isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA903749, AF286366, AK289393, AL391314, AL512783, BQ059621, HY156642
      Conserved Domains (1) summary
      cl21453
      Location:1 → 215
      PKc_like; Protein Kinases, catalytic domain

    2. NM_020397.4 → NP_065130.1  calcium/calmodulin-dependent protein kinase type 1D isoform 1

      See identical proteins and their annotated locations for NP_065130.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks the 3' terminal exon used in variant 2, and its 3' terminal exon extends past a splice site that is used in variant 2. It encodes isoform 1, which has a shorter and distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AA903749, AF286366, AK289393, AL512783, BQ059621, HY168807
      Consensus CDS
      CCDS7092.1
      UniProtKB/TrEMBL
      Q5SQQ7
      Related
      ENSP00000368122.1, ENST00000378845.5
      Conserved Domains (1) summary
      cd14168
      Location:12 → 312
      STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta

    3. NM_153498.4 → NP_705718.1  calcium/calmodulin-dependent protein kinase type 1D isoform 2

      See identical proteins and their annotated locations for NP_705718.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AB081726, AK289393, AL512783, BC035745, BC073155, HY168807, KF510334
      Consensus CDS
      CCDS7091.1
      UniProtKB/Swiss-Prot
      B0YIY0, Q8IU85, Q9HD31
      Related
      ENSP00000478874.1, ENST00000619168.5
      Conserved Domains (1) summary
      cd14168
      Location:12 → 312
      STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      12349547..12835545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717483.5 → XP_006717546.1  calcium/calmodulin-dependent protein kinase type 1D isoform X3

      See identical proteins and their annotated locations for XP_006717546.1

      Conserved Domains (1) summary
      cd14168
      Location:12 → 312
      STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta

    2. XM_006717482.4 → XP_006717545.1  calcium/calmodulin-dependent protein kinase type 1D isoform X2

      Conserved Domains (1) summary
      cd14168
      Location:12 → 312
      STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta

    3. XM_047425537.1 → XP_047281493.1  calcium/calmodulin-dependent protein kinase type 1D isoform X6

    4. XM_011519591.4 → XP_011517893.1  calcium/calmodulin-dependent protein kinase type 1D isoform X1

      Conserved Domains (1) summary
      cd14083
      Location:18 → 265
      STKc_CaMKI; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I

    5. XM_011519595.4 → XP_011517897.1  calcium/calmodulin-dependent protein kinase type 1D isoform X6

      See identical proteins and their annotated locations for XP_011517897.1

      Conserved Domains (1) summary
      cl21453
      Location:1 → 215
      PKc_like; Protein Kinases, catalytic domain

    6. XM_011519593.4 → XP_011517895.1  calcium/calmodulin-dependent protein kinase type 1D isoform X5

      Conserved Domains (2) summary
      smart00220
      Location:1 → 205
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:2 → 238
      PKc_like; Protein Kinases, catalytic domain

    7. XM_011519592.4 → XP_011517894.1  calcium/calmodulin-dependent protein kinase type 1D isoform X4

      Conserved Domains (2) summary
      smart00220
      Location:6 → 209
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:6 → 242
      PKc_like; Protein Kinases, catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      12360834..12849903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366368.1 → XP_054222343.1  calcium/calmodulin-dependent protein kinase type 1D isoform X3

    2. XM_054366367.1 → XP_054222342.1  calcium/calmodulin-dependent protein kinase type 1D isoform X2

    3. XM_054366366.1 → XP_054222341.1  calcium/calmodulin-dependent protein kinase type 1D isoform X1

    4. XM_054366371.1 → XP_054222346.1  calcium/calmodulin-dependent protein kinase type 1D isoform X6

    5. XM_054366370.1 → XP_054222345.1  calcium/calmodulin-dependent protein kinase type 1D isoform X5

    6. XM_054366369.1 → XP_054222344.1  calcium/calmodulin-dependent protein kinase type 1D isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_027322.1: Suppressed sequence

      Description
      NR_027322.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IU85.1 GenPept UniProtKB/Swiss-Prot:Q8IU85

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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