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

    Gene ID: 84945, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ABHD13provided by HGNC
    Official Full Name
    abhydrolase domain containing 13provided by HGNC
    Primary source
    HGNC:HGNC:20293
    See related
    Ensembl:ENSG00000139826 AllianceGenome:HGNC:20293
    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
    Summary
    Predicted to enable palmitoyl-(protein) hydrolase activity. Predicted to be involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.4), thyroid (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD13 in Genome Data Viewer
    Location:
    13q33.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (108218392..108234243)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (107444583..107460434)
    RS_2024_09 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 heparan sulfate glucosamine 3-O-sulfotransferase 4-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108520312-108520880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108527353-108527854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108527855-108528354 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32038 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:108578206-108578800 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32158 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:108751669-108751831 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:108830918-108831040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108846907-108847407 Neighboring gene Sharpr-MPRA regulatory region 13792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:108922483-108922991 Neighboring gene NANOG hESC enhancer GRCh37_chr13:108978967-108979599 Neighboring gene uncharacterized LOC105370355 Neighboring gene TNF superfamily member 13b Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32209 Neighboring gene DNA ligase 4 Neighboring gene RNA, 5S ribosomal pseudogene 39

    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. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. Anney RJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18951430
    2. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    3. Interaction mapping of endoplasmic reticulum ubiquitin ligases identifies modulators of innate immune signalling. Fenech EJ, et al. Elife, 2020 Jul 2. PMID 32614325, Free PMC Article
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
    5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_032859.3 → NP_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
      B3KWE7, Q7L211, Q8NBW1, Q96JX9
      Related
      ENSP00000365063.3, ENST00000375898.4
      Conserved Domains (1) summary
      COG1073
      Location:107 → 302
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      108218392..108234243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521128.4 → XP_011519430.1  protein ABHD13 isoform X1

      See identical proteins and their annotated locations for XP_011519430.1

      UniProtKB/Swiss-Prot
      B3KWE7, Q7L211, Q8NBW1, Q96JX9
      Conserved Domains (1) summary
      COG1073
      Location:107 → 302
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      107444583..107460434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375074.1 → XP_054231049.1  protein ABHD13 isoform X1

      UniProtKB/Swiss-Prot
      B3KWE7, Q7L211, Q8NBW1, Q96JX9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L211.1 GenPept UniProtKB/Swiss-Prot:Q7L211

    Gene LinkOut

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

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