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Gene: Pafah1b1 (platelet-activating factor acetylhydrolase, isoform 1b, subunit 1) Mus musculus
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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
Orthologs:
Related Pseudogenes: Pafah1b1-ps1   Pafah1b1-ps2  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

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

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Pafah1b1
Alliance Gene
NCBI 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



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