Gene
kptn
- ID
- ZDB-GENE-040801-258
- Name
- kaptin (actin binding protein)
- Symbol
- kptn Nomenclature History
- Previous Names
-
- wu:fc13b08
- wu:fc13b09
- zgc:100793
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Predicted to be involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Predicted to colocalize with filamentous actin. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human KPTN (kaptin, actin binding protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6902423 (1 image)
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 |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 41 | Alliance | Intellectual developmental disorder, autosomal recessive 41 | 615637 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029982 | Kaptin |
Domain Details Per Protein
| Protein | Length | Kaptin |
|---|---|---|
|
UniProtKB:Q6DC73
|
436 |
Interactions and Pathways
No data available
Plasmids
No data available