| Tbio | AF4/FMR2 family member 4 |
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
Comments
| Disease | Target Count |
|---|---|
| Bone Diseases, Developmental | 25 |
| Cognition Disorders | 23 |
| Congenital Heart Defects | 37 |
| Facies | 8 |
| Growth Disorders | 33 |
| Lung diseases | 48 |
| Disease | Target Count |
|---|---|
| CHOPS syndrome | 1 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | -1.200 | 0.000 |
| astrocytic glioma | 1.900 | 0.006 |
| ependymoma | 2.400 | 0.001 |
| oligodendroglioma | 2.400 | 0.001 |
| osteosarcoma | 2.819 | 0.000 |
| group 4 medulloblastoma | 2.500 | 0.000 |
| atypical teratoid / rhabdoid tumor | 1.300 | 0.000 |
| glioblastoma | 1.600 | 0.003 |
| medulloblastoma, large-cell | 1.800 | 0.000 |
| juvenile dermatomyositis | 1.019 | 0.000 |
| acute quadriplegic myopathy | 1.468 | 0.000 |
| primary pancreatic ductal adenocarcinoma | 1.990 | 0.000 |
| non-small cell lung cancer | -1.196 | 0.000 |
| intraductal papillary-mucinous adenoma (... | 2.100 | 0.002 |
| intraductal papillary-mucinous carcinoma... | 1.500 | 0.002 |
| lung cancer | -1.900 | 0.011 |
| Breast cancer | 1.800 | 0.038 |
| pediatric high grade glioma | 1.100 | 0.008 |
| aldosterone-producing adenoma | -1.203 | 0.018 |
| ovarian cancer | -2.600 | 0.000 |
| pancreatic cancer | 1.300 | 0.015 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA EggNOG |
| Xenopus | OMA Inparanoid |
| PMID | Text |
|---|---|
| 26007649 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 25730767 | missense mutations in AFF4 in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that was named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia) |
| 24843025 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 24727379 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 24565118 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 24367103 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 24158816 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 23518577 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| 23471103 | AFF4 is positioned to make unexpected direct contacts with HIV Tat, and Tat enhances P-TEFb/CCNT1 affinity for AFF4. |
| 23471103 | HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1 |
| More... |
MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYDEMKDFIGDRS 1 - 70 IPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQSQKRSSGLQSGHSSQRTSAGS 71 - 140 SSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSSPGKPQAVSSLNSSHSRSHGNDHHSKEHQRS 141 - 210 KSPRDPDANWDSPSRVPFSSGQHSTQSFPPSLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSH 211 - 280 GNSMTELKPSSKAHLTKLKIPSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTK 281 - 350 ESQQSNFGTGEQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEG 351 - 420 ADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLNKVNPHKVSPAS 421 - 490 SVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGSESGRGRQKSPAQSDSTTQRR 491 - 560 TVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSRHKAATKGSRKPNIKKESKSSPRPTAEKKKY 561 - 630 KSTSKSSQKSREIIETDTSSSDSDESESLPPSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKE 631 - 700 LLSPLSEPDDRYPLIVKIDLNLLTRIPGKPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKN 701 - 770 EDDNRASESKKPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSS 771 - 840 LKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSKPRRTKLVFDD 841 - 910 RNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNAQESKSPFPMYSETVDLIKYT 911 - 980 MKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKENALKYSKTLTEHLKNSYNNSQAPSPGLGSKA 981 - 1050 VGMPSPVSPKLSPGNSGNYSSGASSASASGSSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQ 1051 - 1120 KEFFAELDKVMGPLIFNASIMTDLVRYTRQGLHWLRQDAKLIS 1121 - 1163 //
| PMID | Year | Title |
|---|---|---|
| 25730767 | 2015 | Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. |
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 23471103 | 2013 | The AFF4 scaffold binds human P-TEFb adjacent to HIV Tat. |
| 23251033 | 2013 | HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold. |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 22895430 | 2012 | The super elongation complex (SEC) family in transcriptional control. |
| 22483617 | 2012 | The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. |
| 22195968 | 2011 | The little elongation complex regulates small nuclear RNA transcription. |
| 22190034 | 2011 | Global landscape of HIV-human protein complexes. |
| More... |
