Gene
smc3
- ID
- ZDB-GENE-030131-3196
- Name
- structural maintenance of chromosomes 3
- Symbol
- smc3 Nomenclature History
- Previous Names
-
- cspg6 (1)
- im:7142991
- wu:fb22e01
- wu:fc30d07
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in mitotic sister chromatid cohesion and regulation of transcription by RNA polymerase II. Predicted to localize to chromosome and nucleus. Used to study Cornelia de Lange syndrome. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 3. Is expressed in several structures, including axis; blastoderm; digestive system; head; and nervous system. Orthologous to human SMC3 (structural maintenance of chromosomes 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Cornelia de Lange syndrome 3 | Alliance | Cornelia de Lange syndrome 3 | 610759 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Cornelia de Lange syndrome | WT + MO1-smc3 | standard conditions | Xu et al., 2015 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003395 | RecF/RecN/SMC, N-terminal |
Domain | IPR010935 | SMCs flexible hinge |
Domain | IPR041741 | Structural maintenance of chromosomes 3, ABC domain, eukaryotic |
Family | IPR024704 | Structural maintenance of chromosomes protein |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036277 | SMCs flexible hinge superfamily |
Domain Details Per Protein
Protein | Length | P-loop containing nucleoside triphosphate hydrolase | RecF/RecN/SMC, N-terminal | SMCs flexible hinge | SMCs flexible hinge superfamily | Structural maintenance of chromosomes 3, ABC domain, eukaryotic | Structural maintenance of chromosomes protein |
---|---|---|---|---|---|---|---|
UniProtKB:Q803N2
|
1216 |
Interactions and Pathways
No data available
Plasmids
No data available