Gene
pafah1b1b
- ID
- ZDB-GENE-040116-3
- Name
- platelet-activating factor acetylhydrolase 1b, regulatory subunit 1b
- Symbol
- pafah1b1b Nomenclature History
- Previous Names
-
- lis1a (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have dynein complex binding activity and microtubule plus-end binding activity. Involved in several processes, including apical protein localization; brain morphogenesis; and photoreceptor cell maintenance. 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
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55898 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lissencephaly 1 | Alliance | Lissencephaly 1 | 607432 |
| lissencephaly 1 | Alliance | Subcortical laminar heterotopia | 607432 |
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:Q803D2
|
410 | |||||||||
|
UniProtKB:A0A8M9PQB6
|
410 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pafah1b1b-201
(1)
|
Ensembl | 3,183 nt | ||
| mRNA |
pafah1b1b-202
(1)
|
Ensembl | 1,387 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pafah1b1 | polyclonal | Rabbit |
|
1 |
Plasmids
No data available