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Details on Person UniProt:Q9UHB7 AFF4
| Class:Id | ReferenceGeneProduct:218173 |
|---|---|
| _chainChangeLog | chain:1-1163 added on Sat February 7 2015 |
| _displayName | UniProt:Q9UHB7 AFF4 |
| _timestamp | 2025-08-15 21:58:40 |
| chain | chain:1-1163 |
| checksum | 474E1906B8832AC1 |
| comment | FUNCTION 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.SUBUNIT Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3) (PubMed:12065898, PubMed:20159561, PubMed:20471948, PubMed:22195968, PubMed:22483617, PubMed:30134174). Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation (PubMed:22483617).INTERACTION Associates to transcriptionally active chromatin but not at snRNA genes.ALTERNATIVE PRODUCTS Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain.DEVELOPMENTAL STAGE Expressed in fetal heart, lung, brain and to a lower extent liver.PTM Dephosphorylated at Ser-549 by the PNUTS-PP1 complex, promoting RNA polymerase II transcription pause-release.DISEASE A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the AF4 family.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: AF4/FMR2 family member 4 alternativeName: ALL1-fused gene from chromosome 5q31 protein shortName: Protein AF-5q31 alternativeName: Major CDK9 elongation factor-associated protein |
| geneName | AFF4 AF5Q31 MCEF HSPC092 |
| identifier | Q9UHB7 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Chromosomal rearrangement Chromosome Direct protein sequencing Disease variant Dwarfism Isopeptide bond Nucleus Obesity Phosphoprotein Proteomics identification Proto-oncogene Reference proteome Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | AFF4 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997003] ENSEMBL:ENSG00000072364 AFF4 [Homo sapiens] |
| secondaryIdentifier | AFF4_HUMAN B2RP19 B7WPD2 Q498B2 Q59FB3 Q6P592 Q8TDR1 Q9P0E4 |
| sequenceLength | 1163 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:218174] UniProt:Q9UHB7-2 AFF4 [Homo sapiens] [ReferenceIsoform:218175] UniProt:Q9UHB7-3 AFF4 [Homo sapiens] [ReferenceIsoform:415360] UniProt:Q9UHB7-1 AFF4 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:8932788] AFF4 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9UHB7 AFF4 (218173)
