Molecular Target Synopsis
Domains and Structures
Drugs and Clinical Candidates
Ligand Efficiency Plot
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
Germline Genetics

SMCHD1 (A6NHR9) - Overview - Molecular Target Synopsis


SMCHD1, Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Enzyme Classification 3.6.1.-
UniProt A6NHR9

Also Known as SMHD1_HUMAN, SMCHD1, KIAA0650

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). Homodimer; homodimerizes via its SMC hinge domain (By similarity). Interacts with LRIF1 (PubMed:23542155).

Isoforms / Transcripts (Protein Coding)

Sub-cellular localization

UniProt: SMCHD1 is active in the following subcellular-locations: chromosome.
GO terms: SMCHD1 is active in the following subcellular-locations: Barr body, site of double-strand break.

GO terms

Gene Copy Number Variation

In COSMIC - Cell Lines Project SMCHD1 has gain in 9 cell-lines, loss in 8 cell-lines and no signal in 988 cell-lines. (see details)

Gene Expression

In NCI60, the highest expressing cell lines are: HL_60, MDA_MB_231, HS578T

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: KYSE-510, KYSE-70, WSU-FSCCL

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: NHLF, K562, AG445

(see details)