Homo sapiens Gene: ABHD5
Summary
InnateDB Gene IDBG-28436.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABHD5
Gene Name abhydrolase domain containing 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000011198
Encoded Proteins
abhydrolase domain containing 5
abhydrolase domain containing 5
abhydrolase domain containing 5
abhydrolase domain containing 5
abhydrolase domain containing 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:43690113-43734371
Strand Forward strand
Band p21.33
Transcripts
ENST00000013894 ENSP00000013894
ENST00000456453 ENSP00000391582
ENST00000458276 ENSP00000390849
ENST00000454293 ENSP00000412014
ENST00000413300 ENSP00000392159
ENST00000486764
ENST00000463153
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0042171 lysophosphatidic acid acyltransferase activity
Biological Process
GO:0006508 proteolysis
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006654 phosphatidic acid biosynthetic process
GO:0010891 negative regulation of sequestering of triglyceride
GO:0010898 positive regulation of triglyceride catabolic process
GO:0019433 triglyceride catabolic process
GO:0030154 cell differentiation
GO:0044281 small molecule metabolic process
GO:0051006 positive regulation of lipoprotein lipase activity
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Lipid digestion, mobilization, and transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.19385
RefSeq NM_016006
HUGO
OMIM
CCDS CCDS2711
HPRD 11986
IMGT
EMBL
GenPept
RNA Seq Atlas