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Gene: Pafah1b1 (platelet-activating factor acetylhydrolase, isoform 1b, subunit 1) Mus musculus
Symbol: Pafah1b1
Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
CRRD ID: 1622377
Description: Exhibits identical protein binding activity; microtubule binding activity; and phosphoprotein binding activity. Involved in several processes, including cytoskeleton organization; nervous system development; and transport along microtubule. Localizes to several cellular components, including microtubule cytoskeleton; perinuclear region of cytoplasm; and stereocilium. Colocalizes with cell leading edge. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; nervous system; and sensory organ. Used to study Miller-Dieker lissencephaly syndrome and lissencephaly. Human ortholog(s) of this gene implicated in lissencephaly. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1); PARTICIPATES IN altered Reelin signaling pathway; Reelin signaling pathway; INTERACTS WITH 1,2-dimethylhydrazine; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: L; LI; LIS-1; Lis1; lissencephaly-1 protein; Mds; Mdsh; MGC25297; MMS10-U; Ms10u; Pa; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAF-AH alpha; PAFAH alpha; Pafaha; Pafaha/Lis1; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1; platelet-activating factor acetylhydrolase 45kD subunit; platelet-activating factor acetylhydrolase IB alpha subunit; platelet-activating factor acetylhydrolase IB subunit alpha; platelet-activating factor acetylhydrolase, isoform 1b, beta1 subunit; truncated form platelet-activating factor acetylhydrolase 45kD subunit
Related Pseudogenes: Pafah1b1-ps1   Pafah1b1-ps2  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38.p6 Ensembl1174,673,949 - 74,724,670 (-)EnsemblGRCm38mm10GRCm38
GRCm381174,673,949 - 74,724,384 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371174,487,452 - 74,537,886 (-)NCBIGRCm37mm9NCBIm37
MGSCv361174,490,150 - 74,540,865 (-)NCBImm8
Celera1182,183,768 - 82,236,827 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1145.76NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
More on Pafah1b1
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1622377
Created: 2007-05-02
Species: Mus musculus
Last Modified: 2020-09-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.