InnateDB Protein
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IDBP-241594.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRDM5
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Protein Name
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PR domain containing 5
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Synonyms
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BCS2; PFM2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000377955
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InnateDB Gene
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IDBG-35974 (PRDM5)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:15077163, ECO:0000269PubMed:17636019}.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
3
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001214
SET domain
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PFAM |
PF00856
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PRINTS |
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PIRSF |
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SMART |
SM00317
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NQX1
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PhosphoSite |
PhosphoSite-Q9NQX1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11107
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UniGene |
Hs.666782
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RefSeq |
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HUGO |
HGNC:9349
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OMIM |
614161
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CCDS |
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HPRD |
17902
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IMGT |
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EMBL |
AC025741
AC104068
AC104795
AF272897
AK056352
BC066942
BC121037
BC121038
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GenPept |
AAF78077
AAH66942
AAI21038
AAI21039
BAG51686
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