PAFAH1B1

GENE INFORMATION

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Gene name

PAFAH1B1 (HGNC Symbol)

Synonyms

LIS1, MDCR, MDS, PAFAH

Description

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (HGNC Symbol)

Entrez gene 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]

Chromosome

17 (Chromosome progress)

Cytoband

p13.3

Chromosome location (bp)

2496504 - 2588909

Ensembl

ENSG00000007168 (version 73.37)

Entrez gene

5048

UniProt

P43034 (UniProt - Evidence at protein level)

neXtProt

NX_P43034

Antibodypedia

PAFAH1B1 antibodies
 

PROTEIN VIEW

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PAFAH1B1-001
 
PAFAH1B1-003
 
PAFAH1B1-004
 
PAFAH1B1-008
 
PAFAH1B1-011
 
PAFAH1B1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAFAH1B1-001 ENSP00000380378
ENST00000397195
P43034
Show all »
Show » Show » 410 46.6 No 0
PAFAH1B1-003 ENSP00000460433
ENST00000572915
14 1.8 No 0
PAFAH1B1-004 ENSP00000460591
ENST00000574468
I3L3N5
Show all »
Show » 208 23.7 No 0
PAFAH1B1-008 ENSP00000460258
ENST00000570400
14 1.7 No 0
PAFAH1B1-011 ENSP00000461087
ENST00000576586
I3L495
Show all »
Show » 82 9.6 No 0
PAFAH1B1-201 ENSP00000395628
ENST00000451360
B4DF38
Show all »
Show » 205 23.4 No 0