InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHC1

Summary

InnateDB Protein

IDBP-602237.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHC1

Protein Name

polyhomeotic homolog 1 (Drosophila)

Synonyms

EDR1; HPH1; MCPH11; RAE28;

Species

Homo sapiens

Ensembl Protein

ENSP00000437659

InnateDB Gene

IDBG-17468 (PHC1)

Protein Structure

UniProt Annotation

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. Required for proper control of cellular levels of GMNN expression. {ECO:0000269PubMed:23418308}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:21282530, ECO:0000269PubMed:9121482}.

Disease Associations

Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269PubMed:23418308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0007275	multicellular organismal development
GO:0016574	histone ubiquitination

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0031519	PcG protein complex
GO:0035102	PRC1 complex

Protein Structure and Domains

PDB ID

InterPro

IPR001660 Sterile alpha motif domain
IPR010507 Zinc finger, MYM-type
IPR011510 Sterile alpha motif, type 2
IPR012313 Zinc finger, FCS-type
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF06467
PF07647
PF00536

PRINTS

PIRSF

SMART

SM00454

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P78364