LMPD Database

LMP001247

Record overview

LMPD ID	LMP001247
Gene ID	5048
Species	Homo sapiens (Human)
Gene Name	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Gene Symbol	PAFAH1B1
Synonyms	LIS1; LIS2; MDCR; MDS; PAFAH
Alternate names	platelet-activating factor acetylhydrolase IB subunit alpha; PAFAH1B1; lissencephaly 1 protein; platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa); platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)
Chromosome	17
Map Location	17p13.3
Summary	This 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]
Orthologs	View 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:	REVIEWED

MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPE
KYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAI
MPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSE
TKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR