Homo sapiens Protein: PRDM5
Summary
InnateDB Protein IDBP-241594.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRDM5
Protein Name PR domain containing 5
Synonyms BCS2; PFM2;
Species Homo sapiens
Ensembl Protein ENSP00000377955
InnateDB Gene IDBG-35974 (PRDM5)
Protein Structure
UniProt Annotation
Function Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells. {ECO:0000269PubMed:15077163, ECO:0000269PubMed:17636019, ECO:0000269PubMed:21664999}.
Subcellular Localization Nucleus {ECO:0000269PubMed:15077163, ECO:0000269PubMed:17636019}.
Disease Associations Brittle cornea syndrome 2 (BCS2) [MIM:614170]: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. {ECO:0000269PubMed:21664999}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed with highest levels in colon and ovary. Tends to be silenced in breast, colorectal, gastric and liver cancer tissues. {ECO:0000269PubMed:15077163, ECO:0000269PubMed:17699856}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0070491 repressing transcription factor binding
Biological Process
GO:0000278 mitotic cell cycle
GO:0006351 transcription, DNA-templated
GO:0016575 histone deacetylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051567 histone H3-K9 methylation
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001214 SET domain
PFAM PF00856
PRINTS
PIRSF
SMART SM00317
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQX1
PhosphoSite PhosphoSite-Q9NQX1
TrEMBL
UniProt Splice Variant
Entrez Gene 11107
UniGene Hs.666782
RefSeq
HUGO HGNC:9349
OMIM 614161
CCDS
HPRD 17902
IMGT
EMBL AC025741 AC104068 AC104795 AF272897 AK056352 BC066942 BC121037 BC121038
GenPept AAF78077 AAH66942 AAI21038 AAI21039 BAG51686