SMCHD1

Gene Information

Official Symbol: SMCHD1
Official Name: structural maintenance of chromosomes flexible hinge domain containing 1
Aliases and Previous Symbols: N/A
Entrez ID: 23347
UniProt: A6NHR9
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011].
UniProt Summary: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells (PubMed:23143600). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:23143600}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
Genistein 15μM R07 exp360	-2.26
HMS-I2 5μM R06 exp287	-2.11
Tunicamycin 0.04μM R07 exp418	-2.09
Dorsomorphin 5μM R07 exp357	-1.98
Fluvastatin 2.2μM R06 exp282	-1.72
CB-5083 0.4μM R08 exp468	1.98

Global Fraction of Cell Lines Where Essential: 5/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	1/28
blood	1/28
bone	0/26
breast	0/33
central nervous system	1/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	1/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	1/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 12183
Expression level (log2 read counts): 8.02

Expression Distribution

inactivation of X chromosome by heterochromatin assembly
inactivation of X chromosome by DNA methylation
heterochromatin organization involved in chromatin silencing
Barr body
heterochromatin assembly
positive regulation of double-strand break repair via nonhomologous end joining
nose development
dosage compensation by inactivation of X chromosome
heterochromatin organization
dosage compensation
negative regulation of double-strand break repair via homologous recombination
regulation of double-strand break repair via nonhomologous end joining
negative regulation of double-strand break repair
positive regulation of double-strand break repair
negative regulation of DNA repair
negative regulation of DNA recombination
regulation of double-strand break repair via homologous recombination
site of double-strand break
chromatin organization involved in negative regulation of transcription
chromatin silencing
positive regulation of DNA repair
chromatin organization involved in regulation of transcription
regulation of double-strand break repair
negative regulation of response to DNA damage stimulus
negative regulation of gene expression, epigenetic
positive regulation of response to DNA damage stimulus
regulation of DNA recombination
nuclear chromosome, telomeric region
negative regulation of DNA metabolic process
regulation of DNA repair
chromatin assembly
gene silencing
chromatin assembly or disassembly
chromatin remodeling
DNA packaging
double-strand break repair
positive regulation of DNA metabolic process
respiratory system development
regulation of response to DNA damage stimulus
ATPase activity