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

Gene ID: 79575, updated on 10-Oct-2023

Summary

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Official Symbol
ABHD8provided by HGNC
Official Full Name
abhydrolase domain containing 8provided by HGNC
Primary source
HGNC:HGNC:23759
See related
Ensembl:ENSG00000127220 AllianceGenome:HGNC:23759
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
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Genomic context

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See ABHD8 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17292131..17303425, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17427016..17438315, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17402940..17414234, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:17378029-17378740 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10333 Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17404714-17405262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17405263-17405811 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17411770-17412270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17412271-17412771 Neighboring gene Sharpr-MPRA regulatory region 8409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17419675-17420236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17420237-17420800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17423026-17423526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17423527-17424027 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17432165-17432781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17435160-17435660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17437105-17437632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17438162-17438689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17438690-17439218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17439219-17439746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17439747-17440274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17440275-17440802 Neighboring gene anoctamin 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17447331-17448002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17448003-17448674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17448675-17449346 Neighboring gene GTP binding protein 3, mitochondrial

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
  • 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. 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. Antoniou AC, et al. Nat Genet, 2010 Oct. PMID 20852631, Free PMC Article
  2. Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry. Kang D, et al. J Proteome Res, 2008 Aug. PMID 18570454
  3. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
  4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
  5. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

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
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.
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

  • MGC2512, FLJ11743, MGC14280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

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

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_024527.5 → NP_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, Q9HAE9
    UniProtKB/TrEMBL
    B2C6G3, B2RD12
    Related
    ENSP00000247706.2, ENST00000247706.4
    Conserved Domains (1) summary
    COG0596
    Location:156 → 416
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17427016..17438315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96I13.1 GenPept UniProtKB/Swiss-Prot:Q96I13

Gene LinkOut

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