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AFF4 (ALF transcription elongation factor 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27125
Gene nameGene Name - the full gene name approved by the HGNC.
ALF transcription elongation factor 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AFF4
SynonymsGene synonyms aliases
AF5Q31, CHOPS, MCEF
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205233 T>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs786205679 G>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs786205680 G>A Pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016084 hsa-miR-374b-5p Sequencing 20371350
MIRT016134 hsa-miR-421 Sequencing 20371350
MIRT018533 hsa-miR-335-5p Microarray 18185580
MIRT022101 hsa-miR-128-3p Sequencing 20371350
MIRT027364 hsa-miR-101-3p Sequencing 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 20153263, 21729782, 22190034, 25416956, 28514442
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0006366 Process Transcription by RNA polymerase II TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9UHB7
Protein name AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein)
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, AFF
PDB 4IMY , 4OGR , 4OR5 , 5JW9 , 5L1Z , 6CYT , 6K7P , 6KN5 , 6R80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05110 AF-4
2 479
Family
PF18875 AF4_int
714 728
AF4 interaction motif
Motif
PF18876 AF-4_C
897 1162
AF-4 proto-oncoprotein C-terminal region
Family
Sequence
MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYD
EMKDFIGDRSIPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQS
QKRSSGLQSGHSSQRTSAGSSSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSS
PGKPQAVSSLNSSHSRSHGNDHHSKEHQRSKSPRDPDANWDSPSRVPFSSGQHSTQSFPP
SLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSHGNSMTELKPSSKAHLTKLKI
PSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTKESQQSNFGTG
EQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEG
ADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLN
K
VNPHKVSPASSVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGS
ESGRGRQKSPAQSDSTTQRRTVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSR
HKAATKGSRKPNIKKESKSSPRPTAEKKKYKSTSKSSQKSREIIETDTSSSDSDESESLP
PSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKELLSPLSEPDDRYPLIVKIDL
NLLTRIPG
KPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKNEDDNRASESK
KPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSS
LKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSK
PRRTKLVFDDRNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNA
QESKSPFPMYSETVDLIKYTMKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKEN
ALKYSKTLTEHLKNSYNNSQAPSPGLGSKAVGMPSPVSPKLSPGNSGNYSSGASSASASG
SSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQKEFFAELDKVMGPLIFNASI
MTDLVRYTRQGLHWLRQDAKLI
S
Sequence length 1163
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Viral life cycle - HIV-1   Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Chops syndrome CHOPS SYNDROME, Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome rs786205233, rs786205679, rs786205680 25730767
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 25730767
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease name Disease term dbSNP ID References
Bone disease Bone Diseases, Developmental 25730767
Cognitive disorder Cognition Disorders 25730767
Dwarfism Dwarfism
Gastroesophageal reflux disease Gastroesophageal reflux disease

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