Gene

pafah1b1a

ID
ZDB-GENE-040116-2
Name
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1a
Symbol
pafah1b1a Nomenclature History
Previous Names
  • lis1b (1)
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to have dynein complex binding activity and microtubule plus-end binding activity. Involved in brain morphogenesis. Localizes to cytoplasm. Human ortholog(s) of this gene implicated in lissencephaly. Is expressed in several structures, including gill; heart; liver; nervous system; and pleuroperitoneal region. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Sun et al., 2009
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pafah1b1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
lissencephaly 1 Alliance Lissencephaly 1 607432
lissencephaly 1 Alliance Subcortical laminar heterotopia 607432
Associated With pafah1b1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR006594 LIS1 homology motif
Conserved_site IPR019775 WD40 repeat, conserved site
Family IPR017252 Dynein regulator LIS1
Family IPR050349 WD repeat LIS1/nudF dynein regulation
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Homologous_superfamily IPR037190 LIS1, N-terminal
Repeat IPR001680 WD40 repeat
Repeat IPR020472 G-protein beta WD-40 repeat
Domain Details Per Protein
Protein Length Dynein regulator LIS1 G-protein beta WD-40 repeat LIS1 homology motif LIS1, N-terminal WD40 repeat WD40 repeat, conserved site WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily WD repeat LIS1/nudF dynein regulation
UniProtKB:B2GQS8 410
UniProtKB:Q7T394 410
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pafah1b1a-201 (1) Ensembl 2,252 nt
mRNA pafah1b1a-203 (1) Ensembl 1,671 nt
ncRNA pafah1b1a-002 (1) Ensembl 746 nt
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pafah1b1 polyclonal Rabbit
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations