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Aliases for AFF1 Gene

Aliases for AFF1 Gene

  • AF4/FMR2 Family, Member 1 2 3
  • MLLT2 3 4 6
  • AF4 3 4 6
  • ALL1-Fused Gene From Chromosome 4 Protein 3 4
  • Pre-B-Cell Monocytic Leukemia Partner 1 2 3
  • Proto-Oncogene AF4 3 4
  • Protein AF-4 3 4
  • PBM1 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To, 2 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 2 3
  • AF4/FMR2 Family Member 1 3
  • Protein FEL 4
  • FEL 4

External Ids for AFF1 Gene

Previous HGNC Symbols for AFF1 Gene

  • PBM1
  • MLLT2

Previous GeneCards Identifiers for AFF1 Gene

  • GC04P088214
  • GC04P088075
  • GC04P087856
  • GC04P083600

Summaries for AFF1 Gene

GeneCards Summary for AFF1 Gene

AFF1 (AF4/FMR2 Family, Member 1) is a Protein Coding gene. Diseases associated with AFF1 include precursor b-cell acute lymphoblastic leukemia and chronic neutrophilic leukemia. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is AFF2.

Gene Wiki entry for AFF1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF1 Gene

Genomics for AFF1 Gene

Regulatory Elements for AFF1 Gene

Transcription factor binding sites by QIAGEN in the AFF1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AFF1 Gene

86,934,606 bp from pter
87,141,054 bp from pter
206,449 bases
Plus strand

Genomic View for AFF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFF1 Gene

Proteins for AFF1 Gene

  • Protein details for AFF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    AF4/FMR2 family member 1
    Protein Accession:
    Secondary Accessions:
    • B4DTU1
    • E9PBM3

    Protein attributes for AFF1 Gene

    1210 amino acids
    Molecular mass:
    131422 Da
    Quaternary structure:
    • 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).
    • Sequence=AAA36642.1; Type=Frameshift; Positions=897, 905, 1178; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AFF1 Gene

    Alternative splice isoforms for AFF1 Gene


neXtProt entry for AFF1 Gene

Proteomics data for AFF1 Gene at MOPED

Post-translational modifications for AFF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AFF1 Gene

Domains for AFF1 Gene

Protein Domains for AFF1 Gene


Suggested Antigen Peptide Sequences for AFF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P51825
  • Belongs to the AF4 family.
genes like me logo Genes that share domains with AFF1: view

No data available for Gene Families for AFF1 Gene

Function for AFF1 Gene

Gene Ontology (GO) - Molecular Function for AFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 7689231
GO:0005515 protein binding IPI 22190034
genes like me logo Genes that share ontologies with AFF1: view
genes like me logo Genes that share phenotypes with AFF1: view

Animal Models for AFF1 Gene

MGI Knock Outs for AFF1:

Animal Model Products

miRNA for AFF1 Gene

miRTarBase miRNAs that target AFF1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFF1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AFF1 Gene

Localization for AFF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF1 Gene

Subcellular locations from

Jensen Localization Image for AFF1 Gene COMPARTMENTS Subcellular localization image for AFF1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for AFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0008023 transcription elongation factor complex IDA 22195968
genes like me logo Genes that share ontologies with AFF1: view

Pathways for AFF1 Gene

genes like me logo Genes that share pathways with AFF1: view

Pathways by source for AFF1 Gene

1 KEGG pathway for AFF1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with AFF1: view

Compounds for AFF1 Gene

(2) Novoseek inferred chemical compound relationships for AFF1 Gene

Compound -log(P) Hits PubMed IDs
af 10 75.4 2
probenecid 44.2 1
genes like me logo Genes that share compounds with AFF1: view

Transcripts for AFF1 Gene

Unigene Clusters for AFF1 Gene

AF4/FMR2 family, member 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AFF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFF1 Gene

No ASD Table

Relevant External Links for AFF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AFF1 Gene

mRNA expression in normal human tissues for AFF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for AFF1 Gene

This gene is overexpressed in Cerebrospinal fluid (59.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFF1 Gene

SOURCE GeneReport for Unigene cluster for AFF1 Gene Hs.480190

genes like me logo Genes that share expressions with AFF1: view

Expression partners for AFF1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AFF1 Gene

Orthologs for AFF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AFF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AFF1 35
  • 84.39 (n)
  • 82.61 (a)
AFF1 36
  • 81 (a)
(Canis familiaris)
Mammalia AFF1 35
  • 86.13 (n)
  • 83.33 (a)
AFF1 36
  • 82 (a)
(Mus musculus)
Mammalia Aff1 35
  • 76.56 (n)
  • 71.68 (a)
Aff1 16
Aff1 36
  • 72 (a)
(Pan troglodytes)
Mammalia AFF1 35
  • 98.28 (n)
  • 97.93 (a)
AFF1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Aff1 35
  • 75.49 (n)
  • 70.69 (a)
(Monodelphis domestica)
Mammalia AFF1 36
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia AFF1 36
  • 61 (a)
(Gallus gallus)
Aves AFF1 35
  • 61.93 (n)
  • 52.3 (a)
AFF1 36
  • 51 (a)
(Anolis carolinensis)
Reptilia AFF1 36
  • 53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32672 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1795 35
(Danio rerio)
Actinopterygii CABZ01072037.1 36
  • 36 (a)
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 16 (a)
Species with no ortholog for AFF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AFF1 Gene

Gene Tree for AFF1 (if available)
Gene Tree for AFF1 (if available)

Paralogs for AFF1 Gene

Paralogs for AFF1 Gene

Selected SIMAP similar genes for AFF1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with AFF1: view

Variants for AFF1 Gene

Sequence variations from dbSNP and Humsavar for AFF1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1408 -- 87,136,201(-) AGTTA(C/T)TAAAC utr-variant-3-prime
rs11214 -- 87,122,773(+) AAACT(G/T)TGAAG intron-variant
rs16930 -- 87,122,793(-) TTCTA(C/T)TTGAC intron-variant
rs19026 -- 87,120,104(-) CCTAA(A/G)CTATC intron-variant
rs79003 -- 87,070,733(+) AAAAT(C/T)TCAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFF1 Gene

Variant ID Type Subtype PubMed ID
nsv508297 CNV Loss 20534489
esv2663810 CNV Deletion 23128226
nsv291773 CNV Loss 16902084
nsv879525 CNV Gain 21882294
nsv507181 CNV Insertion 20534489
esv2727935 CNV Deletion 23290073
esv1008659 CNV Deletion 20482838
esv1030392 CNV Deletion 17803354

Relevant External Links for AFF1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF1 Gene

Disorders for AFF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for AFF1 Gene in MalaCards »

(2) Diseases for AFF1 Gene including...


  • Note=A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with KMT2A/MLL1. The result is a rogue activator protein.

(1) University of Copenhagen DISEASES for AFF1 Gene

(6) Novoseek inferred disease relationships for AFF1 Gene

Disease -log(P) Hits PubMed IDs
lymphoblastic leukemia acute 77.2 9
acute leukemia 74.6 6
leukemogenesis 69.5 4
leukemia 69.1 18
chromosomal aberrations 40.4 1

Relevant External Links for AFF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with AFF1: view

No data available for OMIM and Genatlas for AFF1 Gene

Publications for AFF1 Gene

  1. The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. (PMID: 1423625) Gu Y. … Canaani E. (Cell 1992) 2 3 4 23
  2. The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia. (PMID: 8353274) Chen C.S. … Kersey J.H. (Blood 1993) 2 3 23
  3. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. (PMID: 8506309) Nakamura T. … Canaani E. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23
  4. Exon/intron structure of the human AF-4 gene, a member of the AF- 4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia. (PMID: 9233580) Nilson I. … Marschalek R. (Br. J. Haematol. 1997) 3 23
  5. Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. (PMID: 10671636) Felix C.A. … Rappaport E.F. (Mol. Diagn. 1999) 3 23

Products for AFF1 Gene

Sources for AFF1 Gene

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