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Aliases for AFF1 Gene

Aliases for AFF1 Gene

  • AF4/FMR2 Family, Member 1 2 3
  • ALL1-Fused Gene From Chromosome 4 Protein 3 4
  • Pre-B-Cell Monocytic Leukemia Partner 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 neonatal 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 AFF4.

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

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

Chromosome:
4
Start:
86,934,511 bp from pter
End:
87,141,054 bp from pter
Size:
206,544 bases
Orientation:
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:
    P51825-AFF1_HUMAN
    Recommended name:
    AF4/FMR2 family member 1
    Protein Accession:
    P51825
    Secondary Accessions:
    • B4DTU1
    • E9PBM3

    Protein attributes for AFF1 Gene

    Size:
    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).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFF1 Gene

Graphical View of Domain Structure for InterPro Entry

P51825

UniProtKB/Swiss-Prot:

AFF1_HUMAN :
  • Belongs to the AF4 family.
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:0003700 transcription factor activity, sequence-specific DNA binding 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

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 Targets and HOMER Transcription for AFF1 Gene

Localization for AFF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AFF1 Gene COMPARTMENTS Subcellular localization image for AFF1 gene
Compartment Confidence
nucleus 5
plasma membrane 1

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 & 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

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

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
Probenecid Approved Pharma Activator 27

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AF 10
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:

Inhibitory RNA Products

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

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
AFF1
ECgene alternative splicing isoforms for
AFF1

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, PaxDb, 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

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
cow
(Bos Taurus)
Mammalia AFF1 35
  • 84.39 (n)
  • 82.61 (a)
AFF1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFF1 35
  • 86.13 (n)
  • 83.33 (a)
AFF1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aff1 35
  • 76.56 (n)
  • 71.68 (a)
Aff1 16
Aff1 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AFF1 35
  • 98.28 (n)
  • 97.93 (a)
AFF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aff1 35
  • 75.49 (n)
  • 70.69 (a)
oppossum
(Monodelphis domestica)
Mammalia AFF1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFF1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFF1 35
  • 61.93 (n)
  • 52.3 (a)
AFF1 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFF1 36
  • 53 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32672 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1795 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01072037.1 36
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 16 (a)
OneToMany
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

ENSEMBL:
Gene Tree for AFF1 (if available)
TreeFam:
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 MAF
VAR_020370 -
VAR_036130 A breast cancer sample

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)

Relevant External Links for AFF1 Gene

HapMap Linkage Disequilibrium report
AFF1

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

Disorders for AFF1 Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

AFF1_HUMAN
  • 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)
AFF1
Human Genome Epidemiology (HuGE) Navigator
AFF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFF1
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 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 23 67
  2. 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 23 67
  3. The robotic mouse: understanding the role of AF4, a cofactor of transcriptional elongation and chromatin remodelling, in purkinje cell function. (PMID: 19340490) Bitoun E. … Davies K.E. (Cerebellum 2009) 23 67
  4. The AF4-mimetic peptide, PFWT, induces necrotic cell death in MV4-11 leukemia cells. (PMID: 17875318) Palermo C.M. … Hemenway C.S. (Leuk. Res. 2008) 23 67
  5. Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia. (PMID: 19141473) Guenther M.G. … Young R.A. (Genes Dev. 2008) 23 67

Products for AFF1 Gene

Sources for AFF1 Gene

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