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LMP000476

Record overview

LMPD IDLMP000476
Gene ID5050
SpeciesHomo sapiens (Human)
Gene Nameplatelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Gene SymbolPAFAH1B3
SynonymsPAFAHG
Alternate namesplatelet-activating factor acetylhydrolase IB subunit gamma; PAFAH subunit gamma; PAF-AH subunit gamma; PAF-AH 29 kDa subunit; PAF-AH1b alpha 1 subunit; PAF acetylhydrolase 29 kDa subunit; platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)
Chromosome19
Map Location19q13.1
EC Number3.1.1.47
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PAFAH1B3

Proteins

platelet-activating factor acetylhydrolase IB subunit gamma
Refseq ID:NP_001139411
Protein GI:225543097
UniProt ID:Q15102
mRNA ID:NM_001145939
Length:231
RefSeq Status:REVIEWED
MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVW
VGTNNHGHTAEQVTGGIKAIVQLVNERQPQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLG
YTPVCRALHSLLLRLLAQDQGQGAPLLEPAP
 
platelet-activating factor acetylhydrolase IB subunit gamma
Refseq ID:NP_001139412
Protein GI:225543099
UniProt ID:Q15102
mRNA ID:NM_001145940
Length:231
RefSeq Status:REVIEWED
Protein sequence is identical to GI:225543097 (mRNA isoform)
 
platelet-activating factor acetylhydrolase IB subunit gamma
Refseq ID:NP_002564
Protein GI:4505587
UniProt ID:Q15102
mRNA ID:NM_002573
Length:231
RefSeq Status:REVIEWED
Protein sequence is identical to GI:225543097 (mRNA isoform)