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AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31, major CDK9 elongation factor-associated protein, AFF4, AF5Q31, MCEF, HSPC092)
Function:
- role in transcriptional regulation
- component of the cyclin-dependent kinase pair complex (CDK9/cyclin-T1 complex, P-TEFb) transcription elongation factor b>
Structure: belongs to the
AF4 family
Compartment:
nucleus
Alternative splicing: named
isoforms=3
Expression:
-
ubiquitously expressed
- strongly expressed in heart,
placenta,
skeletal muscle,
pancreas & to a lower extent in brain
- expressed in
fetal heart, lung, brain > liver
Pathology:
-
chromosomal insertion ins(5;11)(q31;q13q23) involving AFF4 is found in
acute lymphoblastic leukemia (
ALL). This
insertion forms a
MLL-AFF4
fusion protein
General
transcription factor (TF)
Properties
SIZE: MW = 127 kD
entity length = 1163 aa
COMPARTMENT: cell nucleus
MOTIF: serine-rich region {102-461}
MOTIF: serine residue (SEVERAL)
Breakpoint {350-351}
serine-rich region {836-899}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM 604417
UniProt Q9UHB7
Pfam PF05110
References
- UniProt :accession Q9UHB7
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/AF5q31ID230.html