Version 5.4
Homo sapiens Protein: ABHD12
Summary
InnateDB Protein IDBP-61560.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABHD12
Protein Name abhydrolase domain containing 12
Synonyms ABHD12A; BEM46L2; C20orf22; dJ965G21.2; PHARC;
Species Homo sapiens
Ensembl Protein ENSP00000365725
InnateDB Gene IDBG-61556 (ABHD12)
Protein Structure
UniProt Annotation
Function Lysophosphatidylserine (LPS) lipase, that plays a key role in the central nervous system. Represents a major LPS lipase in the brain. Has 2-arachidonoylglycerol (2-AG) hydrolase activity. May act as a regulator of endocannabinoid signaling pathways. {ECO:0000269PubMed:24027063}.
Subcellular Localization Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
Disease Associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]: A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. {ECO:0000269PubMed:20797687, ECO:0000269PubMed:22938382, ECO:0000269PubMed:24027063}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016787 hydrolase activity
GO:0047372 acylglycerol lipase activity
Biological Process
GO:0006660 phosphatidylserine catabolic process
GO:0007628 adult walking behavior
GO:0008152 metabolic process
GO:0010996 response to auditory stimulus
Cellular Component
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
Protein Structure and Domains
PDB ID
InterPro IPR000073 Alpha/beta hydrolase fold-1
IPR013094 Alpha/beta hydrolase fold-3
IPR029058 Alpha/Beta hydrolase fold
PFAM PF00561
PF07859
PRINTS PR00111
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N2K0
PhosphoSite PhosphoSite-Q8N2K0
TrEMBL I3L440
UniProt Splice Variant
Entrez Gene 26090
UniGene Hs.441550
RefSeq NP_056415
HUGO HGNC:15868
OMIM 613599
CCDS CCDS13172
HPRD 07094
IMGT
EMBL AK075023 AK290815 AK293495 AL117442 AL121772 AL353812 BC014049 CH471133
GenPept AAH14049 BAC11357 BAF83504 BAG56982 CAB55927 CAI13762 CAI13763 CAI23474 CAI23475 EAX10089

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca