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 enable dynein complex binding activity; microtubule plus-end binding activity; and protein heterodimerization activity. Acts upstream of or within brain morphogenesis. Located in cytoplasm. Is expressed in several structures, including gill; heart; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in lissencephaly and lissencephaly 1. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:64021 (1 image)
IMAGE:7136312 (1 image)

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 InterPro	410
UniProtKB:Q7T394 InterPro	410

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pafah1b1a-201 (1) Ensembl	Ensembl	2,252 nt	Select Tool ZFIN BLAST
mRNA	pafah1b1a-203 (1) Ensembl	Ensembl	1,671 nt	Select Tool ZFIN BLAST
ncRNA	pafah1b1a-002 (1) Ensembl	Ensembl	746 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-pafah1b1	polyclonal	pafah1b1a pafah1b1b		Rabbit	WB		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations