Mouse Anti-SMCHD1 Recombinant Antibody (CBXS-5322) (CBMAB-S2536-CQ)

Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family.

Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1; SMC Hinge Domain-Containing Protein 1; Structural Maintenance Of Chromosomes Flexible Hinge Domain-Containing Protein 1; KIAA0650; FSHD2; BAMS;

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 (PubMed:23542155).
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 (PubMed:23143600).
Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383).
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 (PubMed:25294876, PubMed:24790221).
Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876).

Biological Process dosage compensation by inactivation of X chromosomeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process double-strand break repairIEA:InterPro
Biological Process inactivation of X chromosome by heterochromatin assemblyISS:UniProtKB
Biological Process negative regulation of double-strand break repair via homologous recombinationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process nose developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of DNA repairManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of double-strand break repair via nonhomologous end joiningManual Assertion Based On ExperimentIMP:UniProtKB

Chromosome
Recruited to inactivated chromosome X in females by Xist RNA (By similarity).
Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:25294876, PubMed:24790221).

Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2):
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.
Bosma arhinia microphthalmia syndrome (BAMS):
An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence.

Sumoylated with SUMO1.