Gene
smc5
- ID
- ZDB-GENE-061013-288
- Name
- structural maintenance of chromosomes 5
- Symbol
- smc5 Nomenclature History
- Previous Names
-
- pufa (1)
- pum3
- wu:fb70d10
- wu:fi47h05
- zgc:152845
- zgc:66377
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable single-stranded DNA binding activity. Acts upstream of or within cartilage morphogenesis and regulation of apoptotic process involved in development. Predicted to be located in chromosome, telomeric region. Predicted to be part of Smc5-Smc6 complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome. Orthologous to human SMC5 (structural maintenance of chromosomes 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhu et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Zhu et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Atelis syndrome 2 | 620185 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | P-loop containing nucleoside triphosphate hydrolase | Rad50/SbcC-type AAA domain | RecF/RecN/SMC, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:F1QEQ8 | InterPro | 697 | |||
| UniProtKB:E7F0W1 | InterPro | 1073 |
Interactions and Pathways
No data available
Plasmids
No data available