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

Gene ID: 84945, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 5.4), thyroid (RPKM 4.5) and 25 other tissues See more
Orthologs
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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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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
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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