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    ASPHD1 aspartate beta-hydroxylase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 253982, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ASPHD1provided by HGNC
    Official Full Name
    aspartate beta-hydroxylase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:27380
    See related
    Ensembl:ENSG00000174939 AllianceGenome:HGNC:27380
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable dioxygenase activity. Predicted to be involved in peptidyl-amino acid modification. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 13.0), stomach (RPKM 3.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29900363..29919864)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30183028..30203324)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29911809..29917377)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29874668-29875205 Neighboring gene CDIP transferase opposite strand, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889007-29889508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889509-29890008 Neighboring gene seizure related 6 homolog like 2 Neighboring gene Sharpr-MPRA regulatory region 6067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29912830-29913534 Neighboring gene potassium channel tetramerization domain containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7344 Neighboring gene KCTD13 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7345 Neighboring gene transmembrane protein 219

    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. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Perry JR, et al. Nature, 2014 Oct 2. PMID 25231870, Free PMC Article
    2. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    3. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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

    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 dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartate beta-hydroxylase domain-containing protein 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.

    mRNA and Protein(s)

    1. NM_181718.4 → NP_859069.2  aspartate beta-hydroxylase domain-containing protein 1

      See identical proteins and their annotated locations for NP_859069.2

      Status: VALIDATED

      Source sequence(s)
      AC120114, BC009033, BU193236
      Consensus CDS
      CCDS10660.1
      UniProtKB/Swiss-Prot
      A0AVE3, B7ZLZ3, Q5U4P2, Q8IW63, Q8N316, Q96H00
      Related
      ENSP00000311447.5, ENST00000308748.10
      Conserved Domains (1) summary
      pfam05118
      Location:214 → 372
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      29900363..29919864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023107.2 → XP_016878596.1  aspartate beta-hydroxylase domain-containing protein 1 isoform X1

    RNA

    1. XR_007064865.1 RNA Sequence

    2. XR_007064864.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30183028..30203324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379995.1 → XP_054235970.1  aspartate beta-hydroxylase domain-containing protein 1 isoform X1

    RNA

    1. XR_008489072.1 RNA Sequence

    2. XR_008489073.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198907.1: Suppressed sequence

      Description
      NM_198907.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U4P2.3 GenPept UniProtKB/Swiss-Prot:Q5U4P2

    Gene LinkOut

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

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