| Gene Symbol | PAF1 |
|---|---|
| Entrez Gene | 54623 |
| Alt Symbol | F23149_1, PD2 |
| Species | Human |
| Gene Type | protein-coding |
| Description | Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) |
| Other Description | RNA polymerase II-associated factor 1 homolog|pancreatic differentiation protein 2 |
| Swissprots | M0QX35 Q9NUU9 O75239 Q8N7H5 Q9H166 |
| Accessions | AAC25503 EAW56880 EAW56881 EAW56882 EAW56883 Q8N7H5 AF086555 AJ401156 CAC20564 AK001985 BAA92020 AK098423 BAC05305 AK294625 BAG57806 BC000017 AAH00017 BC013402 AAH13402 DA821359 DQ891839 ABM82765 DQ895026 ABM85952 NM_001256826 NP_001243755 NM_019088 NP_061961 NR_046384 |
| Function | Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex |
| Subcellular Location | Nucleus {ECO:0000269|PubMed:16491129}. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin. |