Gene
pstpip1a
- ID
- ZDB-GENE-050419-251
- Name
- proline-serine-threonine phosphatase interacting protein 1a
- Symbol
- pstpip1a Nomenclature History
- Previous Names
-
- si:dkey-24l11.5
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have cytoskeletal protein binding activity. Predicted to localize to cytoplasm; cytoskeleton; and plasma membrane. Human ortholog(s) of this gene implicated in PAPA syndrome. Orthologous to human PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| PAPA syndrome | Alliance | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | 604416 |
| Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | 601979 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | AH/BAR domain superfamily | F-BAR domain | FCH domain | PSTPIP1, SH3 domain | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q1LX61
|
418 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pstpip1a-201
(1)
|
Ensembl | 1,262 nt |
Interactions and Pathways
No data available
Plasmids
No data available