ABHD15 abhydrolase domain containing 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD15provided by HGNC
Official Full Name: abhydrolase domain containing 15provided by HGNC
Primary source: HGNC:HGNC:26971
See related: Ensembl:ENSG00000168792 MIM:619894; AllianceGenome:HGNC:26971
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: Predicted to enable monoacylglycerol lipase activity and short-chain carboxylesterase activity. Predicted to be involved in adipose tissue development; cellular lipid metabolic process; and lipid catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in fat (RPKM 15.3), liver (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (29560547..29567037, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (30503418..30509906, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (27887565..27894055, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABHD15 promotes cell viability, glycolysis, and inhibits apoptosis in cardiomyocytes under hypoxia.
Title: ABHD15 promotes cell viability, glycolysis, and inhibits apoptosis in cardiomyocytes under hypoxia.
ABHD15 associates with and stabilizes phosphodiesterase 3B (PDE3B).
Title: Loss of ABHD15 Impairs the Anti-lipolytic Action of Insulin by Altering PDE3B Stability and Contributes to Insulin Resistance.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

sY3084 (e-PCR)
- UniSTS:515126

RH47444 (e-PCR)
- UniSTS:84829

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monoacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables short-chain carboxylesterase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: protein ABHD15

Names: abhydrolase domain-containing protein 15; alpha/beta hydrolase domain-containing protein 15

NP_937790.2

EC 3.1.1.-

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.