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Gene: Smchd1 (SMC hinge domain containing 1) Mus musculus
Symbol: Smchd1
Name: SMC hinge domain containing 1
Description: Exhibits ATPase activity and protein homodimerization activity. Involved in heterochromatin organization involved in chromatin silencing; inactivation of X chromosome by DNA methylation; and inactivation of X chromosome by heterochromatin assembly. Localizes to the Barr body. Predicted to colocalize with the nuclear chromosome, telomeric region. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Is expressed in several structures, including genitourinary system. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,2',5,5'-tetrachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 4931400A14Rik; AW554188; ENSMUSG00000041913; mKIAA0650; MommeD1; predicted gene, ENSMUSG00000041913; SMC hinge domain-containing protein 1; structural maintenance of chromosomes flexible hinge domain-containing protein 1
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38 Ensembl1771,344,489 - 71,475,343 (-)Ensembl
GRCm381771,344,489 - 71,475,366 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371771,693,829 - 71,824,683 (-)NCBIGRCm37mm9NCBIm37
MGSCv361771,249,789 - 71,332,381 (-)NCBImm8
Celera1775,615,403 - 75,745,635 (-)NCBICelera
Cytogenetic Map17 E1.3NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
Nomenclature History
More on Smchd1
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1553193
Created: 2005-09-30
Species: Mus musculus
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.