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 enable DNA binding activity. Acts upstream of or within central nervous system development and developmental growth. Predicted to be located in chromosome and nucleoplasm. Predicted to be part of meiotic cohesin complex. Predicted to be active in nucleus. Is expressed in central nervous system and tail bud. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2; congestive heart failure; and developmental and epileptic encephalopathy 85. Orthologous to human SMC1A (structural maintenance of chromosomes 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- 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 | Alliance | 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 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036277 | SMCs flexible hinge superfamily |
Domain Details Per Protein
| Protein | Additional Resources | 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 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F0X6 | InterPro | 1232 |
Interactions and Pathways
No data available
Plasmids
No data available