Gene
smc1a
- ID
- ZDB-GENE-090506-9
- Name
- structural maintenance of chromosomes 1A
- Symbol
- smc1a Nomenclature History
- Previous Names
-
- sb:eu719
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and chromatin binding activity. Involved in central nervous system development and developmental growth. Predicted to localize to cohesin complex and nucleus. Is expressed in central nervous system and tail bud. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2 and early infantile epileptic encephalopathy. Orthologous to human SMC1A (structural maintenance of chromosomes 1A).
- Genome Resources
- Note
- None
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
- Thisse Expression Data
-
- eu719 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Fazio et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Cornelia de Lange syndrome 2 | Alliance | Cornelia de Lange syndrome 2 | 300590 |
Developmental and epileptic encephalopathy 85, with or without midline brain defects | 301044 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003395 | RecF/RecN/SMC, N-terminal |
Domain | IPR010935 | SMCs flexible hinge |
Domain | IPR028468 | Smc1, ATP-binding cassette domain |
Family | IPR024704 | Structural maintenance of chromosomes protein |
Family | IPR029683 | Structural maintenance of chromosomes protein 1A, metazoan |
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 | Smc1, ATP-binding cassette domain | SMCs flexible hinge | SMCs flexible hinge superfamily | Structural maintenance of chromosomes protein | Structural maintenance of chromosomes protein 1A, metazoan |
---|---|---|---|---|---|---|---|---|
UniProtKB:E7F0X6
|
1232 |
Interactions and Pathways
No data available
Plasmids
No data available
- Gene Tree
- Ensembl