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ABHD8 abhydrolase domain containing 8 [ Homo sapiens (human) ]

Gene ID: 79575, updated on 7-Jun-2020

Summary

Official Symbol
ABHD8provided by HGNC
Official Full Name
abhydrolase domain containing 8provided by HGNC
Primary source
HGNC:HGNC:23759
See related
Ensembl:ENSG00000127220
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
Summary
This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 11.8), brain (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See ABHD8 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17292131..17303425, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17402940..17414282, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene anoctamin 8 Neighboring gene GTP binding protein 3, mitochondrial

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

NHGRI GWAS Catalog

Description
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2512, FLJ11743, MGC14280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
lysophosphatidic acid acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidic acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 

General protein information

Preferred Names
protein ABHD8
Names
abhydrolase domain-containing protein 8
alpha/beta hydrolase domain-containing protein 8

NCBI Reference Sequences (RefSeq)

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_024527.5NP_078803.4  protein ABHD8

    See identical proteins and their annotated locations for NP_078803.4

    Status: VALIDATED

    Source sequence(s)
    BC039087, DA137174, DA357595
    Consensus CDS
    CCDS12355.1
    UniProtKB/Swiss-Prot
    Q96I13
    UniProtKB/TrEMBL
    B2C6G3
    Related
    ENSP00000247706.2, ENST00000247706.4
    Conserved Domains (1) summary
    COG0596
    Location:156416
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17292131..17303425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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