Gene
stim1a
- ID
- ZDB-GENE-060503-914
- Name
- stromal interaction molecule 1a
- Symbol
- stim1a Nomenclature History
- Previous Names
-
- si:dkey-24p1.5
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have calcium channel regulator activity and calcium ion binding activity. Predicted to be involved in activation of store-operated calcium channel activity; cellular calcium ion homeostasis; and store-operated calcium entry. Predicted to localize to endoplasmic reticulum and plasma membrane. Human ortholog(s) of this gene implicated in Stormorken syndrome; primary immunodeficiency disease; and tubular aggregate myopathy. Orthologous to human STIM1 (stromal interaction molecule 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 10 | Alliance | Immunodeficiency 10 | 612783 |
Stormorken syndrome | Alliance | Stormorken syndrome | 185070 |
tubular aggregate myopathy 1 | Alliance | Myopathy, tubular aggregate, 1 | 160565 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Sterile alpha motif/pointed domain superfamily | Stromal interaction molecule | Stromal interaction molecule 1, SAM domain | Stromal interaction molecule, Orai1-activating region |
---|---|---|---|---|---|
UniProtKB:Q1LY88
|
676 | ||||
UniProtKB:A0A8M2BKR0
|
781 | ||||
UniProtKB:A0A8M2BKP3
|
808 | ||||
UniProtKB:A0A2R8RIM0
|
703 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
stim1a-201
(1)
|
Ensembl | 4,416 nt | ||
mRNA |
stim1a-202
(1)
|
Ensembl | 7,520 nt | ||
mRNA |
stim1a-203
(1)
|
Ensembl | 2,109 nt |
Interactions and Pathways
No data available
Plasmids
No data available