ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in several processes, including endocytosis; inflammatory response; and innate immune response. Predicted to be located in several cellular components, including cleavage furrow; lamellipodium; and uropod. Predicted to be active in cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in PAPA syndrome and autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia. 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 |
|---|---|---|---|
| autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | Alliance | Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | 601979 |
| PAPA syndrome | Alliance | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | 604416 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AH/BAR domain superfamily | F-BAR domain | FCH domain | PSTPIP1, SH3 domain | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1LX61 | InterPro | 418 |
- Genome Browsers
| 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
- Genome Browsers