| Gene Information | |
|---|---|
| Gene Name | KIAA0594 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1101 |
| Protein Names | Structural maintenance of chromosomes protein 5 (SMC protein 5) (SMC-5) (hSMC5) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8IY18 |
| Gene Card | SMC5 |
| Uniprot ID | Q8IY18 |
| Pfam | PF02463 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed (PubMed:11408570). Strongly expressed in testis (PubMed:11408570). {ECO:0000269|PubMed:11408570}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1180116 rs1180117 rs11142365 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:25931565}. Chromosome {ECO:0000250|UniProtKB:Q8CG46}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Note=Associates with chromatin (PubMed:25931565). Colocalizes with SMC6 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity). Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526). Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). {ECO:0000250|UniProtKB:Q8CG46, ECO:0000269|PubMed:25931565}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |