SMCHD1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0009048Biological processdosage compensation by inactivation of X chromosome
GO_2001034Biological processpositive regulation of double-strand break repair via nonhomologous end joining
GO_0051276Biological processchromosome organization
GO_2000042Biological processnegative regulation of double-strand break repair via homologous recombination
GO_0045739Biological processpositive regulation of DNA repair
GO_0006302Biological processdouble-strand break repair
GO_0043584Biological processnose development
GO_0001740Cellular componentBarr body
GO_0000781Cellular componentchromosome, telomeric region
GO_0035861Cellular componentsite of double-strand break
GO_0003677Molecular functionDNA binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity
GO_0005524Molecular functionATP binding

IV. Literature review

[source]
Gene nameSMCHD1
Protein nameStructural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-)
Structural maintenance of chromosomes flexible hinge domain containing 1
Alternative protein SMCHD1
SynonymsKIAA0650
DescriptionFUNCTION: Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin . Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus . Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation . Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks . Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair . .

AccessionsA0A8I5KQZ7
J3QSH1
A0A2R8YCU7
ENST00000584897.5
ENST00000577880.5
ENST00000645355.1
ENST00000686864.1
A0A2R8YE92
L0R6P7
ENST00000688342.1
A0A8I5KRS9
J3KRK8
ENST00000320876.11 [A6NHR9-1]
A0A8I5KW02
A6NHR9
ENST00000642953.1
ENST00000585229.1
J3KTL8
ENST00000686763.1