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    ABHD14A abhydrolase domain containing 14A [ Homo sapiens (human) ]

    Gene ID: 25864, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ABHD14Aprovided by HGNC
    Official Full Name
    abhydrolase domain containing 14Aprovided by HGNC
    Primary source
    HGNC:HGNC:24538
    See related
    Ensembl:ENSG00000248487 MIM:618771; AllianceGenome:HGNC:24538
    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
    Also known as
    DORZ1
    Summary
    Predicted to enable hydrolase activity. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 15.4), thyroid (RPKM 13.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD14A in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51975064..51981196)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52007983..52014115)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52009080..52015212)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 62 Neighboring gene poly(rC) binding protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51999749-52000312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52000313-52000874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002001-52002564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002565-52003126 Neighboring gene abhydrolase domain containing 14B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52007254-52008190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14424 Neighboring gene ABHD14A-ACY1 readthrough Neighboring gene Sharpr-MPRA regulatory region 207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52015181-52015682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14425 Neighboring gene aminoacylase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52024676-52025348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52025349-52026021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52027370-52028102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19923 Neighboring gene ribosomal protein L29

    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 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. Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse. Hoshino J, et al. Brain Res Mol Brain Res, 2003 Dec 12. PMID 14667578
    2. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and characterization of Mouse Dorz1, along with sequence comparison to a similar protein in human.
      Title: Dorz1, a novel gene expressed in differentiating cerebellar granule neurons, is down-regulated in Zic1-deficient mouse.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough ABHD14A-ACY1

    Readthrough gene: ABHD14A-ACY1, Included gene: ACY1

    Homology

    Clone Names

    • FLJ60317, FLJ60467, DKFZp564O243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ABHD14A
    Names
    abhydrolase domain-containing protein 14A
    alpha/beta hydrolase domain-containing protein 14A

    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_015407.5 → NP_056222.2  protein ABHD14A

      See identical proteins and their annotated locations for NP_056222.2

      Status: VALIDATED

      Source sequence(s)
      AY358201, BC002571, CN256406
      Consensus CDS
      CCDS2843.1
      UniProtKB/Swiss-Prot
      Q6UXU8, Q9BUJ0, Q9Y3T7
      Related
      ENSP00000273596.3, ENST00000273596.8
      Conserved Domains (2) summary
      COG0596
      Location:74 → 270
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam12695
      Location:97 → 250
      Abhydrolase_5; Alpha/beta hydrolase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      51975064..51981196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52007983..52014115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUJ0.2 GenPept UniProtKB/Swiss-Prot:Q9BUJ0

    Gene LinkOut

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

    Chemical Information
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