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MT000961

UniProt Annotations

Entry Information

Gene Name	AF4/FMR2 family, member 4
Protein Entry	AFF4_HUMAN
UniProt ID	Q9UHB7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UHB7-1; Sequence=Displayed; Name=2; IsoId=Q9UHB7-2; Sequence=VSP_019220, VSP_019221; Name=3; IsoId=Q9UHB7-3; Sequence=VSP_019218, VSP_019219;
Developmental Stage	Expressed in fetal heart, lung, brain and to a lower extent liver. {ECO:0000269\|PubMed:10588740}.
Disease	Note=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.
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. {ECO:0000269\|PubMed:20159561, ECO:0000269\|PubMed:20471948, ECO:0000269\|PubMed:23251033}.
Interaction	O60563:CCNT1; NbExp=5; IntAct=EBI-395282, EBI-2479671; Q03111:MLLT1; NbExp=8; IntAct=EBI-395282, EBI-1384215; P42568:MLLT3; NbExp=4; IntAct=EBI-395282, EBI-716132; P04608:tat (xeno); NbExp=4; IntAct=EBI-395282, EBI-6164389;
Sequence Caution	Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92784.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the AF4 family. {ECO:0000305}.
Subcellular Location	Nucleus {ECO:0000269\|PubMed:12065898}. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.
Subunit	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. 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). Interacts with ELL. {ECO:0000250, ECO:0000269\|PubMed:12065898, ECO:0000269\|PubMed:20159561, ECO:0000269\|PubMed:20471948, ECO:0000269\|PubMed:22195968, ECO:0000269\|PubMed:22483617}.
Tissue Specificity	Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269\|PubMed:10588740, ECO:0000269\|PubMed:12065898}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AF5q31ID230.html";