InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMCHD1

Summary

InnateDB Protein

IDBP-396.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMCHD1

Protein Name

structural maintenance of chromosomes flexible hinge domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000326603

InnateDB Gene

IDBG-402 (SMCHD1)

Protein Structure

UniProt Annotation

Function

Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells. {ECO:0000250, ECO:0000269PubMed:23143600}.

Subcellular Localization

Chromosome {ECO:0000250}. Note=Localizes to Barr body. {ECO:0000250}.

Disease Associations

Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269PubMed:23143600}. Note=The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0009048	dosage compensation by inactivation of X chromosome
GO:0051276	chromosome organization
GO:0060821	inactivation of X chromosome by DNA methylation