Recombinant Human Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1), Truncated

Uniprot Id

A6NHR9

Target Species

Human

Target Name

SMCHD1

Target Full Name

Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Target Function

Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. 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. Required to facilitate Xist RNA spreading. 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

Target Involvement

Facioscapulohumeral muscular dystrophy 2 (FSHD2); Bosma arhinia microphthalmia syndrome (BAMS)

Target Subcellular Location

Chromosome.

Target Synonyms

BAMS; FSHD2; KIAA0650; SMC hinge domain containing 1; SMC hinge domain containing protein 1; Smchd1; SMHD1_HUMAN; Structural maintenance of chromosomes flexible hinge domain containing 1; Structural maintenance of chromosomes flexible hinge domain-containing protein 1