| Gene Information | |
|---|---|
| Gene Name | SMCHD1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2005 |
| Protein Names | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1292 ( ENSG00000101596 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | A6NHR9 |
| Gene Card | SMCHD1 |
| Uniprot ID | A6NHR9 |
| Pfam | PF06470 |
| In ASD | no |
| Allosteric Prediction | no (-0.9998169) |
| Ortholog in Animals | Alpaca_ SMCHD1 ( ortholog_one2one ) Dog_ SMCHD1 ( ortholog_one2one ) GuineaPig_ SMCHD1 ( ortholog_one2one ) Macaque_ SMCHD1 ( ortholog_one2one ) Mouse_ Smchd1 ( ortholog_one2one ) Pig_ SMCHD1 ( ortholog_one2one ) Rat_ Smchd1 ( ortholog_one2one ) Rabbit_ SMCHD1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | 0.000730(Chimpanzee);NULL(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6MW7 (X-ray 2.19A ) |
| DBSNP | rs1135402737 rs1135402738 rs1057519645 rs1057519646 rs1057519646 rs1057519643 rs1057519644 rs1135402739 rs1057519641 rs1135402740 rs1135402741 rs746679988 rs886041921 rs1057519639 rs1057519640 rs1057519642 rs1135402742 rs1135402743 rs1135402744 rs1135402745 rs397518422 rs886042392 rs397514623 rs2276092 rs633422 rs9961682 |
| Subcellular location [CC] | Chromosome {ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876}. Note=Recruited to inactivated chromosome X in females by Xist RNA (By similarity). Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:25294876, PubMed:24790221). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876}. |
| Mouse PG classification | LPG |
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