Mus musculus Gene: Pafah1b3
Summary
InnateDB Gene IDBG-157255.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pafah1b3
Gene Name platelet-activating factor acetylhydrolase, isoform 1b, subunit 3
Synonyms mus[g]; Pafahg
Species Mus musculus
Ensembl Gene ENSMUSG00000005447
Encoded Proteins
platelet-activating factor acetylhydrolase, isoform 1b, subunit 3
platelet-activating factor acetylhydrolase, isoform 1b, subunit 3
platelet-activating factor acetylhydrolase, isoform 1b, subunit 3
platelet-activating factor acetylhydrolase, isoform 1b, subunit 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000079462:
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 7:25295049-25297986
Strand Reverse strand
Band A3
Transcripts
ENSMUST00000005583 ENSMUSP00000005583
ENSMUST00000108410 ENSMUSP00000104048
ENSMUST00000140093
ENSMUST00000148150 ENSMUSP00000121250
ENSMUST00000155118 ENSMUSP00000120379
ENSMUST00000148828
ENSMUST00000149634
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 38 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 38 [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:0007283 spermatogenesis
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Ether lipid metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
Ether lipid metabolism pathway
INOH
PID NCI
Lissencephaly gene (LIS1) in neuronal migration and development
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.597
RefSeq NM_008776
OMIM
CCDS CCDS20979
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas