Gene
smarcal1
- ID
- ZDB-GENE-041210-303
- Name
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
- Symbol
- smarcal1 Nomenclature History
- Previous Names
-
- im:7145331 (1)
- si:ch211-239d11.1
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have DNA helicase activity and annealing helicase activity. Involved in several processes, including angiogenesis; animal organ development; and embryonic body morphogenesis. Predicted to colocalize with DNA replication factor A complex. Human ortholog(s) of this gene implicated in Schimke immuno-osseous dysplasia. Is expressed in central nervous system; immature eye; and intermediate cell mass of mesoderm. Orthologous to human SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145331 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Huang et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Schimke immuno-osseous dysplasia | Alliance | Schimke immunoosseous dysplasia | 242900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000330 | SNF2, N-terminal |
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR010003 | HARP domain |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | HARP domain | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QFG4
|
807 | ||||||
|
UniProtKB:B2ZFP3
|
807 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available