Entity Details

Primary name SMCHD1
Entity type gene
Source Source Link

Details

PrimaryID23347
RefseqGeneNG_031972
SymbolSMCHD1
Namestructural maintenance of chromosomes flexible hinge domain containing 1
Chromosome18
Location18p11.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsSMHD1_HUMAN

GO terms

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GOName
GO:0001740 Barr body
GO:0003677 DNA binding
GO:0005524 ATP binding
GO:0006302 double-strand break repair
GO:0009048 dosage compensation by inactivation of X chromosome
GO:0016887 ATP hydrolysis activity
GO:0035861 site of double-strand break
GO:0042803 protein homodimerization activity
GO:0043584 nose development
GO:0045739 positive regulation of DNA repair
GO:0060820 inactivation of X chromosome by heterochromatin assembly
GO:0060821 inactivation of X chromosome by DNA methylation
GO:0070868 heterochromatin organization involved in chromatin silencing
GO:2000042 negative regulation of double-strand break repair via homologous recombination
GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Diseases

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Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
SMCHD1Cbx1BioGRID, IntAct26496610 details
SMCHD1Gnpnat1BioGRID, IntAct26496610 details
SMCHD1Brca1BioGRID, IntAct26496610 details
SMCHD1Ndc80BioGRID, IntAct26496610 details
SMCHD1MecomMINT30462309 details