AFF4
entrez
27125
canonical
uniprot
Q9UHB7
canonical
ensembl
ENSG00000072364
resolver
ensp
ENSP00000265343
resolver
genesymbol
AFF4
resolver
genesymbol_syn
AF5Q31
resolver
genesymbol_syn
MCEF
resolver
hgnc
HGNC:17869
resolver
uniprot
B2RP19
resolver
uniprot
B7WPD2
resolver
uniprot
Q498B2
resolver
uniprot
Q59FB3
resolver
uniprot
Q6P592
resolver
uniprot
Q8TDR1
resolver
uniprot
Q9P0E4
resolver
uniprot_entry
AFF4_HUMAN
resolver
uniprot_sec
B2RP19
resolver
uniprot_sec
B7WPD2
resolver
uniprot_sec
Q498B2
resolver
uniprot_sec
Q59FB3
resolver
uniprot_sec
Q6P592
resolver
uniprot_sec
Q8TDR1
resolver
uniprot_sec
Q9P0E4
resolver
amino_acid_sequence
MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYDEMKDFIGDRSIPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQSQKRSSGLQSGHSSQRTSAGSSSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSSPGKPQAVSSLNSSHSRSHGNDHHSKEHQRSKSPRDPDANWDSPSRVPFSSGQHSTQSFPPSLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSHGNSMTELKPSSKAHLTKLKIPSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTKESQQSNFGTGEQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEGADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLNKVNPHKVSPASSVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGSESGRGRQKSPAQSDSTTQRRTVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSRHKAATKGSRKPNIKKESKSSPRPTAEKKKYKSTSKSSQKSREIIETDTSSSDSDESESLPPSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKELLSPLSEPDDRYPLIVKIDLNLLTRIPGKPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKNEDDNRASESKKPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSSLKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSKPRRTKLVFDDRNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNAQESKSPFPMYSETVDLIKYTMKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKENALKYSKTLTEHLKNSYNNSQAPSPGLGSKAVGMPSPVSPKLSPGNSGNYSSGASSASASGSSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQKEFFAELDKVMGPLIFNASIMTDLVRYTRQGLHWLRQDAKLIS
uniprot
proteins
disease_involvement
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.; DISEASE: CHOPS syndrome (CHOPS) [MIM:616368]: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. {ECO:0000269|PubMed:25730767}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
127459
uniprot
proteins
post_translational_modification
PTM: Dephosphorylated at Ser-549 by the PNUTS-PP1 complex, promoting RNA polymerase II transcription pause-release. {ECO:0000269|PubMed:39603240}.
uniprot
proteins
protein_family
AF4 family
uniprot
proteins
pubmed
10588740
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12065898
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20159561
uniprot
proteins
pubmed
20471948
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22195968
uniprot
proteins
pubmed
22483617
uniprot
proteins
pubmed
22895430
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23251033
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25730767
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30134174
uniprot
proteins
pubmed
39603240
uniprot
proteins
sequence_length
1163
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12065898}. Chromosome {ECO:0000269|PubMed:12065898}. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250|UniProtKB:Q9ESC8}.
uniprot
proteins