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Aliases for AFF4 Gene

Aliases for AFF4 Gene

  • AF4/FMR2 Family, Member 4 2 3
  • AF5Q31 3 4 6
  • Major CDK9 Elongation Factor-Associated Protein 3 4
  • ALL1-Fused Gene From Chromosome 5q31 Protein 3 4
  • MCEF 3 4
  • ALL1 Fused Gene From 5q31 2
  • AF4/FMR2 Family Member 4 3
  • Protein AF-5q31 4

External Ids for AFF4 Gene

Previous GeneCards Identifiers for AFF4 Gene

  • GC05M132243
  • GC05M132211
  • GC05M127403

Summaries for AFF4 Gene

Entrez Gene Summary for AFF4 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 chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

GeneCards Summary for AFF4 Gene

AFF4 (AF4/FMR2 Family, Member 4) is a Protein Coding gene. Diseases associated with AFF4 include lymphoblastic leukemia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is AFF1.

UniProtKB/Swiss-Prot for AFF4 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF4 Gene

Genomics for AFF4 Gene

Regulatory Elements for AFF4 Gene

Genomic Location for AFF4 Gene

Start:
132,875,379 bp from pter
End:
132,963,662 bp from pter
Size:
88,284 bases
Orientation:
Minus strand

Genomic View for AFF4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFF4 Gene

Proteins for AFF4 Gene

  • Protein details for AFF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHB7-AFF4_HUMAN
    Recommended name:
    AF4/FMR2 family member 4
    Protein Accession:
    Q9UHB7
    Secondary Accessions:
    • B2RP19
    • B7WPD2
    • Q498B2
    • Q59FB3
    • Q6P592
    • Q8TDR1
    • Q9P0E4

    Protein attributes for AFF4 Gene

    Size:
    1163 amino acids
    Molecular mass:
    127459 Da
    Quaternary structure:
    • Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL.
    SequenceCaution:
    • Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92784.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AFF4 Gene

    Alternative splice isoforms for AFF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFF4 Gene

Proteomics data for AFF4 Gene at MOPED

Post-translational modifications for AFF4 Gene

  • Ubiquitination at Lys288
  • Modification sites at PhosphoSitePlus

Other Protein References for AFF4 Gene

No data available for DME Specific Peptides for AFF4 Gene

Domains for AFF4 Gene

Protein Domains for AFF4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHB7

UniProtKB/Swiss-Prot:

AFF4_HUMAN :
  • Q9UHB7
Family:
  • Belongs to the AF4 family.
genes like me logo Genes that share domains with AFF4: view

No data available for Gene Families for AFF4 Gene

Function for AFF4 Gene

Molecular function for AFF4 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for AFF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 10588740
GO:0005515 protein binding IPI 20153263
genes like me logo Genes that share ontologies with AFF4: view
genes like me logo Genes that share phenotypes with AFF4: view

Animal Models for AFF4 Gene

MGI Knock Outs for AFF4:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AFF4 Gene

Localization for AFF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF4 Gene

Nucleus. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AFF4 Gene COMPARTMENTS Subcellular localization image for AFF4 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AFF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0008023 transcription elongation factor complex IDA 22195968
genes like me logo Genes that share ontologies with AFF4: view

Pathways for AFF4 Gene

SuperPathways for AFF4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 10588740
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with AFF4: view

No data available for Pathways by source for AFF4 Gene

Transcripts for AFF4 Gene

Unigene Clusters for AFF4 Gene

AF4/FMR2 family, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AFF4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - -
SP3: -
SP4:
SP5:

ExUns: 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for AFF4 Gene

GeneLoc Exon Structure for
AFF4
ECgene alternative splicing isoforms for
AFF4

Expression for AFF4 Gene

mRNA expression in normal human tissues for AFF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFF4 Gene

SOURCE GeneReport for Unigene cluster for AFF4 Gene Hs.519313

mRNA Expression by UniProt/SwissProt for AFF4 Gene

Q9UHB7-AFF4_HUMAN
Tissue specificity: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain.
genes like me logo Genes that share expressions with AFF4: view

No data available for mRNA differential expression in normal tissues for AFF4 Gene

Orthologs for AFF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for AFF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFF4 35
  • 99.86 (n)
  • 99.83 (a)
AFF4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AFF4 35
  • 94.81 (n)
  • 96.22 (a)
AFF4 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFF4 35
  • 94.58 (n)
  • 96.65 (a)
AFF4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aff4 35
  • 89.41 (n)
  • 93.26 (a)
Aff4 16
Aff4 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFF4 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFF4 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aff4 35
  • 90.54 (n)
  • 93.65 (a)
chicken
(Gallus gallus)
Aves AFF4 35
  • 81.93 (n)
  • 87.08 (a)
AFF4 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFF4 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aff4 35
  • 74.99 (n)
  • 78.96 (a)
zebrafish
(Danio rerio)
Actinopterygii aff4 35
  • 61.06 (n)
  • 62.49 (a)
aff4 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 18 (a)
OneToMany
Species with no ortholog for AFF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AFF4 Gene

ENSEMBL:
Gene Tree for AFF4 (if available)
TreeFam:
Gene Tree for AFF4 (if available)

Paralogs for AFF4 Gene

Paralogs for AFF4 Gene

Selected SIMAP similar genes for AFF4 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for AFF4 Gene

genes like me logo Genes that share paralogs with AFF4: view

Variants for AFF4 Gene

Sequence variations from dbSNP and Humsavar for AFF4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs42395 -- 132,878,638(-) GGGCA(A/G)TGGAT utr-variant-3-prime
rs42540 -- 132,878,263(-) CCAAC(A/G)AACCA utr-variant-3-prime
rs708457 -- 132,879,785(-) GGGAG(G/T)GGAGC utr-variant-3-prime
rs739863 -- 132,896,623(-) TACCC(C/G/T)GAGAG reference, synonymous-codon
rs803218 -- 132,880,572(-) GGTTC(A/G)TCTAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AFF4 Gene

Variant ID Type Subtype PubMed ID
nsv882919 CNV Gain 21882294
nsv830489 CNV Loss 17160897
nsv5003 CNV Loss 18451855
esv2730796 CNV Deletion 23290073
nsv830490 CNV Gain 17160897

Relevant External Links for AFF4 Gene

HapMap Linkage Disequilibrium report
AFF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF4 Gene

Disorders for AFF4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for AFF4 Gene including...

Search for AFF4 Gene in MalaCards »

UniProtKB/Swiss-Prot

AFF4_HUMAN
  • 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.

Relevant External Links for AFF4

Genetic Association Database (GAD)
AFF4
Human Genome Epidemiology (HuGE) Navigator
AFF4
genes like me logo Genes that share disorders with AFF4: view

Publications for AFF4 Gene

  1. AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). (PMID: 10588740) Taki T. … Hayashi Y. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. MCEF is localized to the nucleus by protein sequences encoded within three distinct exons, where it represses HIV-1 Tat-transactivation of LTR-directed transcription. (PMID: 17389929) Niedzielski M.F. … Estable M.C. (Int. J. Biol. Sci. 2007) 3 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b- associated protein. (PMID: 12065898) Estable M.C. … Roeder R.G. (J. Biomed. Sci. 2002) 3 4

Products for AFF4 Gene

Sources for AFF4 Gene

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