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Aliases for AFF1 Gene

Aliases for AFF1 Gene

  • AF4/FMR2 Family Member 1 2 3 5
  • ALL1-Fused Gene From Chromosome 4 Protein 3 4
  • Pre-B-Cell Monocytic Leukemia Partner 1 2 3
  • AF4/FMR2 Family, Member 1 2 3
  • Proto-Oncogene AF4 3 4
  • MLLT2 3 4
  • PBM1 3 4
  • AF4 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
  • Protein AF-4 4
  • 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

Entrez Gene Summary for AFF1 Gene

  • This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

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 Lymphoblastic Leukemia. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is AFF3.

Gene Wiki entry for AFF1 Gene

No data available for 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

Enhancers for AFF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AFF1 on UCSC Golden Path with GeneCards custom track

Promoters for AFF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AFF1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for AFF1 Gene

86,934,511 bp from pter
87,141,054 bp from pter
206,544 bases
Plus strand

Genomic View for AFF1 Gene

Genes around AFF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Abcam antibodies for AF4

No data available for DME Specific Peptides for AFF1 Gene

Domains & Families for AFF1 Gene

Gene Families for AFF1 Gene

Protein Domains for AFF1 Gene


Suggested Antigen Peptide Sequences for AFF1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for AFF1 Gene

Gene Ontology (GO) - Molecular Function for AFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 5
cytosol 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for AFF1 Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for AFF1 Gene


No data available for SIGNOR curated interactions for AFF1 Gene

Drugs & Compounds for AFF1 Gene

(1) Drugs for AFF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for AFF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 from HIPED for AFF1 Gene

This gene is overexpressed in Cerebrospinal fluid (59.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for AFF1 Gene

SOURCE GeneReport for Unigene cluster for AFF1 Gene Hs.480190

genes like me logo Genes that share expression patterns with AFF1: view

Protein tissue co-expression partners for AFF1 Gene

Primer 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

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
rs3733378 - 87,047,181(-) AGGGG(C/G)AACTG intron-variant, reference, missense
VAR_036130 A breast cancer sample
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

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

Variation tolerance for AFF1 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.81% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for AFF1 Gene

Disorders for AFF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for AFF1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precursor b-cell acute lymphoblastic leukemia
  • b-all
lymphoblastic leukemia
  • acute lymphocytic leukemia
acute leukemia
  • stem cell leukaemia
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
chronic neutrophilic leukemia
  • cnl
- elite association - COSMIC cancer census association via MalaCards
Search AFF1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for AFF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AFF1: view

No data available for 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 67
  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. Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia. (PMID: 17889710) Bizarro S. … Teixeira M.R. (Cancer Genet. Cytogenet. 2007) 3 23
  4. Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited. (PMID: 16433901) GuAc M. … Boudier T. (BMC Cancer 2006) 3 23
  5. The eleven-nineteen-leukemia protein ENL connects nuclear MLL fusion partners with chromatin. (PMID: 15856011) Zeisig D.T. … Slany R.K. (Oncogene 2005) 3 23

Products for AFF1 Gene

Sources for AFF1 Gene