| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Chromobox protein homolog 2
|
| http://www.biopax.org/relea... |
CBX2_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FUNCTION: 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. 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. Involved in sexual development, acting as activator of NR5A1 expression. SUBUNIT: Component of a PRC1-like complex. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14781-1; Sequence=Displayed; Name=2; IsoId=Q14781-2; Sequence=VSP_015816, VSP_015817; Note=No experimental confirmation available; DISEASE: Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:613080]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. MISCELLANEOUS: The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different complexes. SIMILARITY: Contains 1 A.T hook DNA-binding domain. SIMILARITY: Contains 1 chromo domain. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |