SMCHD1 |
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Identifiers |
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Aliases | SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, BAMS, FSHD2 |
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External IDs | OMIM: 614982; MGI: 1921605; HomoloGene: 23665; GeneCards: SMCHD1; OMA:SMCHD1 - orthologs |
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Gene location (Human) |
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![Chromosome 18 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Ideogram_human_chromosome_18.svg/300px-Ideogram_human_chromosome_18.svg.png) | Chr. | Chromosome 18 (human)[1] |
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| Band | 18p11.32 | Start | 2,655,726 bp[1] |
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End | 2,805,017 bp[1] |
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Gene location (Mouse) |
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![Chromosome 17 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/13/Ideogram_house_mouse_chromosome_17.svg/260px-Ideogram_house_mouse_chromosome_17.svg.png) | Chr. | Chromosome 17 (mouse)[2] |
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| Band | 17|17 E1.3 | Start | 71,651,484 bp[2] |
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End | 71,782,338 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - Achilles tendon
- epithelium of colon
- blood
- bone marrow cells
- monocyte
- superficial temporal artery
- right lung
- granulocyte
- jejunal mucosa
- spleen
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| Top expressed in | - hand
- genital tubercle
- ventricular zone
- tail of embryo
- cumulus cell
- vas deferens
- condyle
- epiblast
- spleen
- Gonadal ridge
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - ATP binding
- ATPase activity
- DNA binding
- protein binding
- hydrolase activity
- protein homodimerization activity
| Cellular component | - chromosome
- Barr body
- site of double-strand break
| Biological process | - dosage compensation by inactivation of X chromosome
- chromosome organization
- nose development
- double-strand break repair
- DNA repair
- chromatin organization
- cellular response to DNA damage stimulus
- positive regulation of DNA repair
- inactivation of X chromosome by heterochromatin assembly
- negative regulation of double-strand break repair via homologous recombination
- positive regulation of double-strand break repair via nonhomologous end joining
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 18: 2.66 – 2.81 Mb | Chr 17: 71.65 – 71.78 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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