SMCHD1

Protein-coding gene in the species Homo sapiens

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; OMA:SMCHD1 - orthologs

Gene location (Human)

Chr.	Chromosome 18 (human)^[1]

Band	18p11.32	Start	2,655,726 bp^[1]
Band	18p11.32	End	2,805,017 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	17\|17 E1.3	Start	71,651,484 bp^[2]
Band	17\|17 E1.3	End	71,782,338 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Achilles tendon

epithelium of colon

blood

bone marrow cells

monocyte

superficial temporal artery

right lung

granulocyte

jejunal mucosa

spleen

Top expressed in

hand

genital tubercle

ventricular zone

tail of embryo

cumulus cell

vas deferens

condyle

epiblast

spleen

Gonadal ridge

More reference expression data

BioGPS

n/a

Gene ontology
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

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: 71.65 – 71.78 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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]

Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.^[10]^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101596 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024054 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine. Retrieved 2020-07-10.
^ "Entrez Gene: SMCHD1". Retrieved 2020-06-09.
^ 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.
^ 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.
^ 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.
^ WEHI (2022). "Rewriting Our Understanding of Epigenetics: Scientists Reveal We Inherit More Than Previously Thought". Nature Communications. 13 (1). SciTech Daily: 4295. doi:10.1038/s41467-022-32057-x. PMC 9314430. PMID 35879318. Retrieved September 13, 2022.
^ Xue, Shifeng; Ly, Thanh Thao Nguyen; Vijayakar, Raunak S.; Chen, Jingyi; Ng, Joel; Mathuru, Ajay S.; Magdinier, Frederique; Reversade, Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring". Nature Communications. 13 (1): 3583. Bibcode:2022NatCo..13.3583X. doi:10.1038/s41467-022-31185-8. ISSN 2041-1723. PMC 9226161. PMID 35739109.

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)