| Gene Information | |
|---|---|
| Gene Name | SMC6L1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1091 |
| Protein Names | Structural maintenance of chromosomes protein 6 (SMC protein 6) (SMC-6) (hSMC6) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96SB8 |
| Gene Card | SMC6 |
| Uniprot ID | Q96SB8 |
| 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 | rs35195207 rs1065381 rs35257753 rs10221907 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:25931565, ECO:0000269|PubMed:35263599}. Nucleus speckle {ECO:0000269|PubMed:11408570}. Chromosome {ECO:0000250|UniProtKB:Q924W5}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Note=Colocalizes with SMC5 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). Associates with chromatin (PubMed:25931565). 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). Localizes in interchromatin granule clusters (PubMed:11408570). {ECO:0000250|UniProtKB:Q924W5, ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:25931565}. |
| Mouse PG classification | NA |
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