Human Gene AFF4 (ENST00000265343.10) from GENCODE V41
Description: Homo sapiens AF4/FMR2 family member 4 (AFF4), mRNA. (from RefSeq NM_014423) RefSeq Summary (NM_014423): 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]. Gencode Transcript: ENST00000265343.10 Gencode Gene: ENSG00000072364.13 Transcript (Including UTRs) Position: hg38 chr5:132,875,395-132,963,634 Size: 88,240 Total Exon Count: 21 Strand: - Coding Region Position: hg38 chr5:132,881,059-132,937,189 Size: 56,131 Coding Exon Count: 20
ID:AFF4_HUMAN DESCRIPTION: RecName: Full=AF4/FMR2 family member 4; AltName: Full=ALL1-fused gene from chromosome 5q31 protein; Short=Protein AF-5q31; AltName: Full=Major CDK9 elongation factor-associated protein; FUNCTION: May play a role in transcriptional regulation (By similarity). SUBUNIT: Component of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor b (P-TEFb). 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; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: 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: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a MLL-AFF4 fusion protein. SIMILARITY: Belongs to the AF4 family. SEQUENCE CAUTION: Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92784.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AF5q31ID230.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UHB7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0006368 transcription elongation from RNA polymerase II promoter GO:0007286 spermatid development
R-HSA-112381 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex R-HSA-113429 Elongating transcript encounters a lesion in the template R-HSA-112379 Recruitment of elongation factors to form elongation complex R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest R-HSA-112385 Addition of nucleotides leads to transcript elongation R-HSA-112392 Resumption of elongation after recovery from pausing R-HSA-113413 TFIIS-mediated recovery of elongation from arrest R-HSA-112395 Abortive termination of elongation after arrest R-HSA-112396 Separation of elongating transcript from template R-HSA-112382 Formation of RNA Pol II elongation complex R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-75955 RNA Polymerase II Transcription Elongation R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)