Pafah1b1
Gene Detail

Symbol Name ID

Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 MGI:109520

Synonyms

Lis1, LIS-1, lissencephaly-1 protein, Mdsh, PAF-AH 45, Pafaha

Feature Type

protein coding gene

Genetic Map

Chromosome 11

45.76 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

Chr11:74673949-74724670 bp, - strand From VEGA annotation of GRCm38   50722 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:371  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: dynein regulator, Lis1 type
Gene Tree: Pafah1b1

Human homologs

Human Homolog		PAFAH1B1, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
NCBI Gene ID		5048
neXtProt AC		NX_P43034
Human Synonyms		LIS1, LIS2, MDCR, MDS, PAFAH
Human Chr (Location)		17p13.3; chr17:2496923-2588909 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PAFAH1B1

Alleles and phenotypes

All alleles(391) : Targeted(7) Gene trapped(384)
 

Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination.

 
Human Diseases Modeled Using Mouse Pafah1b1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (96 annotations)

Process	acrosome assembly, actin cytoskeleton organization, ...
Component	astral microtubule, axon part, ...
Function	dynein binding, dynein intermediate chain binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (31 records)
Data Summary: Results (346)    Tissues (159)    Images (60)
Theiler Stages: 1, 2, 3, 4, 5, 10, 12, 14, 16, 18, 19, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	4
RNA in situ	299
Western blot	28
RT-PCR	15

cDNA source data(303)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(334) Genomic(28) cDNA(303) Primer pair(2) Other(1)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000006184 (Evidence)
Ensembl Gene Model	ENSMUSG00000020745 (Evidence)
Entrez Gene	18472 (Evidence)
UniGene	397111
DFCI	TC1572561, TC1600995, TC1603886, TC1606471, TC1632600, TC1651107
DoTS	DT.101187575, DT.110538071, DT.40173322, DT.534770, DT.94157948, DT.97357823
NIA Mouse Gene Index	U033069, U048093
PDB	1UUJ, 1VYH
Consensus CDS Project	CCDS25035.1
International Mouse Knockout Project Status	Pafah1b1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006184	VEGA Gene Model | MGI Sequence Detail	50722	C57BL/6J
transcript	OTTMUST00000013927	VEGA | MGI Sequence Detail	5803	Not Applicable
polypeptide	OTTMUSP00000006469	VEGA | MGI Sequence Detail	410	Not Applicable

All sequences(87) RefSeq(3) UniProt(9)

Polymorphisms

RFLP(1) : SNPs(200 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017252	Dynein regulator
InterPro	IPR020472	G-protein beta WD-40 repeat
InterPro	IPR006594	LisH dimerisation motif
InterPro	IPR013720	LisH dimerisation motif, subgroup
InterPro	IPR001680	WD40 repeat
InterPro	IPR019775	WD40 repeat, conserved site
InterPro	IPR017986	WD40-repeat-containing domain
InterPro	IPR015943	WD40/YVTN repeat-like-containing domain
Protein Ontology	PR:000012227	platelet-activating factor acetylhydrolase IB subunit alpha

References

(Earliest) J:9865 Ledbetter DH, et al., Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region. Proc Natl Acad Sci U S A. 1989 Jul;86(13):5136-40
(Latest) J:195272 Sipe CW, et al., Lis1 mediates planar polarity of auditory hair cells through regulation of microtubule organization. Development. 2013 Apr;140(8):1785-95
All references(113)

Other accession IDs

MGD-MRK-16183, MGD-MRK-39519