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    ABHD13 abhydrolase domain containing 13 [ Homo sapiens (human) ]

    Gene ID: 84945, updated on 23-Nov-2021

    Summary

    Official Symbol
    ABHD13provided by HGNC
    Official Full Name
    abhydrolase domain containing 13provided by HGNC
    Primary source
    HGNC:HGNC:20293
    See related
    Ensembl:ENSG00000139826
    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
    BEM46L1; C13orf6; bA153I24.2
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.4), thyroid (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABHD13 in Genome Data Viewer
    Location:
    13q33.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (108218392..108235440)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (108870740..108886591)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NALCN channel auxiliary factor 1 Neighboring gene uncharacterized LOC112268111 Neighboring gene Sharpr-MPRA regulatory region 13792 Neighboring gene uncharacterized LOC105370355 Neighboring gene TNF superfamily member 13b Neighboring gene DNA ligase 4 Neighboring gene RNA, 5S ribosomal pseudogene 39

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

    Description Tests
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14906, MGC27058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables palmitoyl-(protein) hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein depalmitoylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    protein ABHD13
    Names
    abhydrolase domain-containing protein 13
    alpha/beta hydrolase domain-containing protein 13

    NCBI Reference Sequences (RefSeq)

    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_032859.3NP_116248.2  protein ABHD13

      See identical proteins and their annotated locations for NP_116248.2

      Status: VALIDATED

      Source sequence(s)
      AL157762, BC018608, BC022566, BQ424339, BX647428
      Consensus CDS
      CCDS32007.1
      UniProtKB/Swiss-Prot
      Q7L211
      UniProtKB/TrEMBL
      A0A024RDX1
      Related
      ENSP00000365063.3, ENST00000375898.4
      Conserved Domains (1) summary
      COG1073
      Location:107302
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      108218392..108235440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521128.3XP_011519430.1  protein ABHD13 isoform X1

      See identical proteins and their annotated locations for XP_011519430.1

      UniProtKB/Swiss-Prot
      Q7L211
      UniProtKB/TrEMBL
      A0A024RDX1
      Conserved Domains (1) summary
      COG1073
      Location:107302
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
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