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 enable ATP-dependent DNA/DNA annealing activity. Acts upstream of or within several processes, including angiogenesis; cartilage development; and embryonic body morphogenesis. Predicted to be located in nucleus. Predicted to be active in nuclear replication fork. Is expressed in central nervous system; immature eye; and intermediate cell mass of mesoderm. Human ortholog(s) of this gene implicated in Schimke immuno-osseous dysplasia. Orthologous to human SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QFG4 | InterPro | 807 | |||||||
| UniProtKB:B2ZFP3 | InterPro | 807 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcal1-201
(1)
|
Ensembl | 1,753 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
- Sertori, R., Lin, J.X., Martinez, E., Rana, S., Sharo, A., Kazemian, M., Sunderam, U., Andrake, M., Shinton, S., Truong, B., Dunbrack, R.M., Liu, C., Srinivasan, R., Brenner, S.E., Seroogy, C.M., Puck, J.M., Leonard, W.J., Wiest, D.L. (2022) Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency. Frontiers in immunology. 13:928252
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Huang, C., Gu, S., Yu, P., Yu, F., Feng, C., Gao, N., and Du, J. (2010) Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish. Developmental Biology. 339(1):89-100
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