Version 5.4
Homo sapiens Gene: PAFAH1B3
Summary
InnateDB Gene IDBG-54065.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAFAH1B3
Gene Name platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Synonyms PAFAHG
Species Homo sapiens
Ensembl Gene ENSG00000079462
Encoded Proteins
IDBP-54067
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
IDBP-589282
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
IDBP-765503
IDBP-762606
IDBP-765713
IDBP-763168
IDBP-765430
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:42297033-42303546
Strand Reverse strand
Band q13.2
Transcripts
ENST00000262890 ENSP00000262890
ENST00000538771 ENSP00000444935
ENST00000595530 ENSP00000473065
ENST00000596265 ENSP00000470753
ENST00000601865 ENSP00000472950
ENST00000594989 ENSP00000471933
ENST00000597333
ENST00000599778 ENSP00000469352
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 46 [view]
Protein-Protein 46 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006629 lipid metabolic process
GO:0007283 spermatogenesis
GO:0007399 nervous system development
GO:0007420 brain development
GO:0008152 metabolic process
GO:0016042 lipid catabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000005447
View Gene Order
ENSBTAG00000019787
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00565
Ether lipid metabolism pathway
INOH
PID NCI
lis1pathway
Lissencephaly gene (LIS1) in neuronal migration and development
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001145939 NM_001145940 NM_002573
HUGO
OMIM
CCDS CCDS12602
HPRD 04354
IMGT
EMBL
GenPept
RNA Seq Atlas

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