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

Gene ID: 84945, updated on 22-Sep-2022

Summary

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, Apr 2022]
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

See ABHD13 in Genome Data Viewer
Location:
13q33.3
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (108218392..108234243)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (107444583..107460434)
105.20220307 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 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

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

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 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)

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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_032859.3NP_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, Q96JX9
    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 Annotation Release 110 details...Open this link in a new tab

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_011521128.4XP_011519430.1  protein ABHD13 isoform X1

    See identical proteins and their annotated locations for XP_011519430.1

    UniProtKB/Swiss-Prot
    Q7L211, Q96JX9
    UniProtKB/TrEMBL
    A0A024RDX1
    Conserved Domains (1) summary
    COG1073
    Location:107302
    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)