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MGP002192

Record overview

MGPD IDMGP002192
Gene ID5048
SpeciesHomo sapiens (Human)
Gene Nameplatelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Gene Symbol PAFAH1B1
SynonymsMDS; LIS1; LIS2; MDCR; PAFAH;
Alternate namesplatelet-activating factor acetylhydrolase IB subunit alpha; PAFAH1B1; lissencephaly 1 protein; platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD); platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa);
Chromosome17
Map Location17p13.3
SummaryThis locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
OrthologsView orthologs and multiple alignments for PAFAH1B1

Proteins

platelet-activating factor acetylhydrolase IB subunit alpha
Refseq ID:NP_000421
Protein GI:4557741
UniProt ID:P43034
mRNA ID:NM_000430
Length:410
RefSeq Status:
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPE
KYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAI
MPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSE
TKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR
 
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