Version 5.4
| Homo sapiens Protein: PHF19 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-83111.7 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | PHF19 | ||||||||||||||||||
| Protein Name | PHD finger protein 19 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000310372 | ||||||||||||||||||
| InnateDB Gene | IDBG-83105 (PHF19) | ||||||||||||||||||
| Protein Structure |
|
||||||||||||||||||
| UniProt Annotation | |||||||||||||||||||
| Function | Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases NO66 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing. Recruits the PRC2 complex to CpG islands and contributes to embryonic stem cell self-renewal. Also binds dimethylated at 'Lys- 36' (H3K36me2). Isoform 1 and isoform 2 inhibit transcription from an HSV-tk promoter. {ECO:0000269PubMed:15563832, ECO:0000269PubMed:21143197, ECO:0000269PubMed:23104054, ECO:0000269PubMed:23160351}. | ||||||||||||||||||
| Subcellular Localization | Nucleus {ECO:0000269PubMed:15563832}. | ||||||||||||||||||
| Disease Associations | |||||||||||||||||||
| Tissue Specificity | Isoform 1 is expressed in thymus, heart, lung and kidney. Isoform 2 is predominantly expressed in placenta, skeletal muscle and kidney, whereas isoform 1 is predominantly expressed in liver and peripheral blood leukocytes. Overexpressed in many types of cancers, including colon, skin, lung, rectal, cervical, uterus, liver cancers, in cell lines derived from different stages of melanoma and in glioma cell lines. {ECO:0000269PubMed:15563832}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001965
Zinc finger, PHD-type IPR002999 Tudor domain IPR011011 Zinc finger, FYVE/PHD-type IPR019787 Zinc finger, PHD-finger |
||||||||||||||||||
| PFAM |
PF00567
PF00628 |
||||||||||||||||||
| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00249
SM00333 |
||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q5T6S3 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q5T6S3 | ||||||||||||||||||
| TrEMBL | X6RER8 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 26147 | ||||||||||||||||||
| UniGene | Hs.460124 | ||||||||||||||||||
| RefSeq | NP_001273772 | ||||||||||||||||||
| HUGO | HGNC:24566 | ||||||||||||||||||
| OMIM | 609740 | ||||||||||||||||||
| CCDS | CCDS35117 | ||||||||||||||||||
| HPRD | 17846 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AL117477 AL161911 AL354792 BC022374 BC108663 BC125076 BC125077 BX640713 | ||||||||||||||||||
| GenPept | AAH22374 AAI08664 AAI25077 AAI25078 CAB55950 CAE45832 CAI15690 CAI15691 CAI15692 CAI95112 | ||||||||||||||||||