SMCHD1

Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene.[5][6] Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2)[7] and Bosma arhinia microphthalmia syndrome (BAMS).[8][9]

SMCHD1
Identifiers
Aliases	SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, BAMS, FSHD2
External IDs	OMIM: 614982 MGI: 1921605 HomoloGene: 23665 GeneCards: SMCHD1
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18p11.32 Start 2,655,738 bp[1] End 2,805,017 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E1.3 Start 71,344,489 bp[2] End 71,475,343 bp[2]
Gene ontology Molecular function • ATP binding • ATPase activity • DNA binding • GO:0001948 protein binding • hydrolase activity • protein homodimerization activity Cellular component • chromosome • Barr body • nuclear chromosome, telomeric region • site of double-strand break Biological process • dosage compensation by inactivation of X chromosome • inactivation of X chromosome by DNA methylation • 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 • heterochromatin organization involved in chromatin silencing • negative regulation of double-strand break repair via homologous recombination • positive regulation of double-strand break repair via nonhomologous end joining Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23347	74355
Ensembl	ENSG00000101596	ENSMUSG00000024054
UniProt	A6NHR9	Q6P5D8
RefSeq (mRNA)	NM_015295	NM_028887
RefSeq (protein)	NP_056110	NP_083163
Location (UCSC)	Chr 18: 2.66 – 2.81 Mb	Chr 17: 71.34 – 71.48 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000101596 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024054 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine. Retrieved 2020-07-10.
6. "Entrez Gene: SMCHD1". Retrieved 2020-06-09.
7. Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. (November 2012). "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2". Nat Genet. 44 (12): 1370–4. doi:10.1038/ng.2454. PMC 3671095. PMID 23143600.
8. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. (February 2017). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nat Genet. 49 (2): 249–255. doi:10.1038/ng.3765. PMID 28067911. S2CID 205353193.
9. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, et al. (February 2017). "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nat Genet. 49 (2): 238–248. doi:10.1038/ng.3743. PMC 5473428. PMID 28067909.

Further reading

• Jansz N, Chen K, Murphy JM, Blewitt ME (2017). "The Epigenetic Regulator SMCHD1 in Development and Disease". Trends Genet. 33 (4): 233–243. doi:10.1016/j.tig.2017.01.007. PMID 28222895.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1)