Entrez Summary: This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010].
UniProt Summary: Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780). {ECO:0000250|UniProtKB:P30658, ECO:0000269|PubMed:19361780, ECO:0000269|PubMed:21282530}.
Pfam DomainsGO Terms
Pfam Domains
Chromo
GO Terms
euchromatin
PRC1 complex
heterochromatin
PcG protein complex
methylated histone binding
development of primary sexual characteristics
sex differentiation
chromatin binding
developmental process involved in reproduction
chromatin organization
negative regulation of transcription by RNA polymerase II
chromosome organization
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
reproductive process
reproduction
negative regulation of nucleobase-containing compound metabolic process
DNA binding
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process
negative regulation of biosynthetic process
negative regulation of gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/726