SMCHD1 — Structural maintenance of chromosomes flexible hinge domain containing 1
SMCHD1 belongs to a gene co-expression module in 6 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
SMCHD1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | T-cell quiescence regulation Immune regulation | CDC42SE2, CDKN1B, FOXP1, ICAM2, KRAS, MRPS6, MSL3, SERINC5 +4 more | View in SCUBA |
| Enterocytes | Long-gene nuclear transcripts Technical artifact | CCDC68, DOCK9, SP100, UBR2, XKR9, XRN1 | View in SCUBA |
| Gamma-delta T cells | Chromatin Epigenetic Regulation DNA/chromatin regulation | AEBP2, ARID1B, ATG12, ATXN2L, BRWD1, CSNK1G3, EHBP1L1, FBRS +18 more | |
| Innate lymphoid cells | NK ILC Tissue Homing Homing & TEM | ADGRE5, AKAP13, AREG, ARL4C, ATP1B3, B3GNT7, BTG1, CCDC107 +25 more | View in SCUBA |
| Macrophages | Endosomal Vesicle Trafficking Vesicular traficking | ADAM17, AP3B1, ARFGEF1, ARID1B, ARK2N, ASAP1, ATF6, ATP11A +48 more | View in SCUBA |
| Mucosal-associated invariant T cell | STAT4 T cell Identity T cell maturation | ATF7IP, CAMK4, CBLB, CD96, CELF2, DENND4A, IKZF1, JMJD1C +7 more |
About the gene
| Synonyms | FSHD2, KIAA0650 |
|---|---|
| Chromosome | 18: 2655726-2805017 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Predicted intracellular proteins |
| Molecular function | Chromatin regulator, DNA-binding, Hydrolase |
| Biological process | DNA damage, DNA repair |
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 (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.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.