InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Smchd1

Summary

InnateDB Protein

IDBP-532421.3

Last Modified

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

Gene Symbol

Smchd1

Protein Name

SMC hinge domain containing 1

Synonyms

4931400A14Rik; AW554188; mKIAA0650; MommeD1;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000121835

InnateDB Gene

IDBG-196873 (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. May be required for DUX4 silencing in somatic cells. {ECO:0000269PubMed:18425126, ECO:0000269PubMed:22841499}.

Subcellular Localization

Chromosome {ECO:0000269PubMed:18425126}. Note=Localizes to Barr body.

Disease Associations

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [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