ABHD5 abhydrolase domain containing 5 [Homo sapiens] - Gene

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Summary

Official Symbol: ABHD5provided by HGNC
Official Full Name: abhydrolase domain containing 5provided by HGNC
Primary source: HGNC:21396
Locus tag: CGI-58
See related: Ensembl:ENSG00000011198; HPRD:05308; HPRD:11986; MIM:604780; Vega:OTTHUMG00000133039
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDS; CGI58; IECN2; NCIE2; MGC8731
Summary: The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 3p21

Sequence :: Chromosome: 3; NC_000003.11 (43732375..43764217)

See ABHD5 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity
Title: Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).
First report of large genomic deletions in the ABHD5 gene in Chanarin-Dorfman syndrome patients from Mediterranean countries.
Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
analysis of novel mutations in the ABHD5 gene in Chanarin-Dorfman syndrome (CDS) patients
Title: Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.
CGI-58 not only facilitates triglyceride lipolysis, but also provides fatty acid for esterification of ceremide leading to acylceremides
Title: Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism [review]
Title: Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (Review)
Title: Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid
Title: CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
CGI-58 is expressed and packaged into lamellar granules (LG) during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation.
Title: CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
These data enriches the list of CGI-58 mutations associated with Chanarin-Dorfman syndrome and confirms the clinical and allelic heterogeneity of this disease, especially the inconsistent muscle involvement.
Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q8WTS1	O60240	PLIN1	HPRD	PubMed
Q8WTS1	Q99541	PLIN2	HPRD	PubMed
BioGRID:119288	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
1-acylglycerol-3-phosphate O-acyltransferase activity	IEA Inferred from Electronic Annotation more info
lysophosphatidic acid acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity, transferring acyl groups	IEA Inferred from Electronic Annotation more info
NOT triglyceride lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
lipid metabolic process	TAS Traceable Author Statement more info
negative regulation of sequestering of triglyceride	IDA Inferred from Direct Assay more info	PubMed
phosphatidic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of lipoprotein lipase activity	IEA Inferred from Electronic Annotation more info
positive regulation of triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
triglyceride catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	ISS Inferred from Sequence or Structural Similarity more info
lipid particle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Names: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; lipid droplet-binding protein CGI-58; abhydrolase domain-containing protein 5

NP_057090.2

EC 2.3.1.51

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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.

Genomic

NG_007090.3 RefSeqGene

Range

5001..36843

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016006.4 → NP_057090.2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Status: REVIEWED

Source sequence(s)

AC105903, AF007132, BC021958, BG721387

Consensus CDS

CCDS2711.1

UniProtKB/Swiss-Prot

Q8WTS1

Related

ENSP00000390849, OTTHUMP00000164033, ENST00000458276, OTTHUMT00000256644

Conserved Domains (1) summary

PLN02894
Location:1 – 345
Blast Score: 389

PLN02894; hydrolase, alpha/beta fold family protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

43732375..43764217

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

43775563..43807394

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC105903.2 (177599..180381)	None
genomic	AL606838.1	CAD12731.1
genomic	CH471055.1	EAW64699.1
mRNA	AF007132.1	None
mRNA	AF151816.1	AAD34053.1
mRNA	AK313811.1	BAG36547.1
mRNA	BC021958.1	AAH21958.1
mRNA	BG721387.1	None
other-genetic	DQ891175.2	ABM82101.1
other-genetic	DQ894357.2	ABM85283.1