InnateDB Protein
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IDBP-43821.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AFF4
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Protein Name
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AF4/FMR2 family, member 4
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000265343
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InnateDB Gene
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IDBG-43817 (AFF4)
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Protein Structure
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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:0000269PubMed:20159561, ECO:0000269PubMed:20471948, ECO:0000269PubMed:23251033}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:12065898}. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.
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Disease Associations |
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.
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Tissue Specificity |
Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269PubMed:10588740, ECO:0000269PubMed:12065898}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
30
[view]
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Protein-Protein |
28
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
Accession |
GO Term |
GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007797
Transcription factor AF4/FMR2
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PFAM |
PF05110
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UHB7
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PhosphoSite |
PhosphoSite-Q9UHB7
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TrEMBL |
C9JCE0
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UniProt Splice Variant |
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Entrez Gene |
27125
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UniGene |
Hs.604187
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RefSeq |
NP_055238
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HUGO |
HGNC:17869
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OMIM |
604417
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CCDS |
CCDS4164
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HPRD |
09187
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IMGT |
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EMBL |
AB209547
AC004500
AC010240
AF161355
AF197927
AF213987
BC063007
BC100287
BC137226
CH471062
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GenPept |
AAF18981
AAF28915
AAH63007
AAI00288
AAI37227
AAM00184
BAD92784
EAW62305
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