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AFF1 Gene

protein-coding   GIFtS: 51

GC04P088075
AF4/FMR2 family, member 1
(Previous names: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2, pre-B-cell monocytic leukemia partner 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: PBM1, MLLT2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AF-4 1, 2
AF4 1, 2, 3
AF4-MLL 2
FEL 3
MGC134969 2
MLL/AF4 2
MLLT2 2, 3
PBM1 2, 3
Descriptions
AF4-MLL fusion protein 2
AF4/FMR2 family, member 1 2
Protein AF-4 3
Protein FEL 3
Proto-oncogene AF4 3
myeloid/lymphoid or mixed-lineage leukemia (trithorax
(Drosophila) homolog); translocated to, 2, pre-B-cell
monocytic leukemia partner 1 1
myeloid/lymphoid or mixed-lineage leukemia (trithorax
homolog, Drosophila); translocated to, 2 2
myeloid/lymphoid or mixed-lineage leukemia trithorax
homolog 2 2
pre-B-cell monocytic leukemia partner 1 2
External Ids
HGNC: 71351
Entrez Gene: 42992
UniProtKB: P518253
Ensembl: ENSG000001724937
Search outside databases for aliases for AFF1 gene

Previous GC identifer: GC04P088214

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Gene Wiki entry for AFF1
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AFF1 gene  

Entrez Gene cytogenetic band: 4q21   Ensembl cytogenetic band:  4q21.3   HGNC cytogenetic band: 4q21.3

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

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P088075:     (about GC identifiers)

Start:
88,147,177 bp from pter
End:
88,281,215 bp from pter
Size:
134,039 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_016354.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825 (See protein sequence)
Recommended Name: AF4/FMR2 family member 1  
Size: 1210 amino acids; 131422 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAA36642.1; Type=Frameshift; Positions=897, 905, 1178;

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005926.1  

    ENSEMBL proteins: 
    ENSP00000378574 ENSP00000321097 ENSP00000378578 ENSP00000305689 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AF4)
    Human Recombinant Proteins from Abnova (AFF1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

    Antibodies for AFF1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (AF4), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AFF1)
    Search Novus for antibodies for AFF1

    Assays for AFF1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR015479 Transcrpt_fact_AF4
     IPR007797 AF-4


       GeneDecks  AFF1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P51825

    ProtoNet protein and cluster: P51825

    1 Blocks protein family: IPB007797 AF-4 proto-oncoprotein

    UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825
    Similarity: Belongs to the AF4 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AFF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AFF1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005935

                  Applied Biosystems Silencer® siRNAs for AFF1

                  Sigma-Aldrich siRNA for AFF1  
                         Sigma-Aldrich shRNA for AFF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005935
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005935
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_005935 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005935

    9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aff1):

    behavior/neurologicalgrowth/sizehematopoietic systemimmune systemlethality-postnatal
    nervous systemno phenotypic analysisreproductive systemvision/eye

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity TAS7689231
    GO:0016563 transcription activator activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    5/20 Interacting proteins for AFF1 (P518252 ENSP000003056893) via UniProtKB, MINT, and/or STRING (see all 20 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982MINT-62122
    MLLT1ENSP000002526743STRING (score=.997)
    MLLT3ENSP000003696953STRING (score=.997)
    SIAH2ENSP000003224573STRING (score=.976)
    MLLENSP000003741583STRING (score=.965)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045893 positive regulation of transcription, DNA-dependent IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for AFF1
    1 Novoseek chemical compound relationship for AFF1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    af 10 76.18 2 15856011 (1), 16511515 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AFF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AFF1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005935

                  Sigma-Aldrich siRNA for AFF1  
                         Sigma-Aldrich shRNA for AFF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005935  

    REFSEQ mRNAs for AFF1 gene: 

    NM_005935.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005935  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005935
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005935
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_005935 

    Additional cDNA sequence: 

    AF024541.1 AF177236.1 AF177237.1 AF177238.1 AF177239.1 AF492831.1 AK296149.1 AK296243.1 
    AK300364.1 AK302199.1 BC017432.1 BC114930.1 DQ451148.1 L13743.1 L13773.1 L25050.1 

    21 DOTS entries:

    DT.320060  DT.121271684  DT.95106539  DT.40217563  DT.121271853  DT.121271770  DT.207714  DT.91650693 
    DT.95156841  DT.101985638  DT.121271831  DT.75176196  DT.75188384  DT.95295713  DT.100734271  DT.121271747 
    DT.91874814  DT.95106675  DT.95110406  DT.121271880  DT.95106485 

    24/280 AceView cDNA sequences (see all 280 ):

    AA256867 AI638134 BU428544 BU630914 AA582365 CA416095 AI189392 BF431765 
    AI075843 AI017397 BU173183 AI245167 AI401650 AW339615 AA962321 AA152192 
    BF196062 AA661744 CK903363 AI401199 AW303894 BU782668 T59667 AA701548 

    highest scoring ESTs for AFF1:

    L13773 AA150141 AA152192 AA234146 AA234965 AA305835 AA312155 AA368567 AA483790 AA582365 

    Unigene Cluster for AFF1:

    AF4/FMR2 family, member 1
    Hs.480190  [show with all ESTs]
    Unigene Representative Sequence: L13773


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000395142  ENST00000317423  ENST00000395146  ENST00000307808  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    AFF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AFF1

    1 / 2 / 3

    11 probe-sets matching AFF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    1883_s_at2, 3 U95-A 1 1.00 1.00 0.11 0.15 HG4757-HT5207 0.20 1.00 0.72 1

    39037_at2, 3 U95-A 1 1.00 1.00 0.79 0.96 L13773 1.00 1.00 1.00 1

    58632_at2 U95-B 3 0.88 0.44 0.79 1.04 -- -- -- -- --

    211826_s_at2, 3 U133-A 1 1.00 1.00 -- -- L22179 0.20 0.17 0.18 3

    201924_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005935 0.60 1.00 0.82 1

    215451_s_at2, 3 U133-A 2 1.00 0.68 -- -- BF575588 0.40 1.00 0.76 1

    225389_at2 U133-B 4 0.91 0.46 -- -- -- -- -- -- --

    211826_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    201924_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    215451_s_at2 U133Plus2 2 1.00 0.68 -- -- -- -- -- -- --

    225389_at2 U133Plus2 4 0.91 0.46 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.480190
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for AFF1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    AFF11   -- AF4/FMR2 family, member 1 99.23(n)
    99.01(a)
    461362  XM_001156948.1  XP_001156948.1 
    cow
    (Bos taurus)
    AFF11   -- AF4/FMR2 family, member 1 84.97(n)
    83.33(a)
    781149  XM_001249488.1  XP_001249489.1 
    rat
    (Rattus norvegicus)
    Aff11   -- AF4/FMR2 family, member 1 78.4(n)
    74.51(a)
    305152  XM_223161.4  XP_223161.4 
    mouse
    (Mus musculus)
    Aff11, 5 5 (56.00 cM)5
    AF4/FMR2 family, member 11, 5 80.12(n)1
    75.53(a)1
    173551  NM_133919.31  NP_598680.31 
     AF0131315  AF0742665  (see all 24)
    chicken
    (Gallus gallus)
    AFF11   -- AF4/FMR2 family, member 1 63.14(n)
    53.31(a)
    422590  XM_420549.2  XP_420549.2 
    About this table        Species with no ortholog for AFF1

    ENSEMBL Gene Tree for AFF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for AFF1 gene
    AFF32  AFF22  AFF42  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/884 NCBI SNPs in AFF1 are shown (see all 884 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 324)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs29265111,2
    A,C,F,H,O88281635(-) GCACCT/CAGGTC 1 -- ng318Minor allele frequency- C:0.46EU EA WA NA 636
    rs3424601,2
    C,F,H,O88278266(-) GCACAT/CTTGTT 1 -- ut3112Minor allele frequency- C:0.16EU EA WA NA 2448
    rs3424581,2
    C,F,H,O88279049(-) TGTAAG/TGGAAA 1 -- ut319Minor allele frequency- T:0.22MN EA NA EU WA 2232
    rs37559791,2
    A,C,F,H88277364(-) AGTAAG/CTGTGC 1 -- ut31 ese37Minor allele frequency- C:0.20EA NA WA 1932
    rs3424611,2
    A,C,F,H88277496(-) CATTAT/CAAATA 1 -- ut319Minor allele frequency- C:0.21MN EU EA WA NA 2228
    rs14081,2
    A,C,F,H88276377(-) AGTTAT/CTAAAC 1 -- ut31 ese313Minor allele frequency- C:0.40MN NA EU EA WA 1062
    rs3424591,2
    A,C,F,H88278439(-) CAGACC/TTCTAT 1 -- ut31 ese317Minor allele frequency- T:0.27MN EA NA EU WA 2802
    rs100299151,2
    C,F,H88278641(+) AGAGTG/CTAAAT 1 -- ut317Minor allele frequency- C:0.24EU EA WA NA 556
    rs37333781,2
    C,F,H88187357(-) AGGGGG/CAACTG 1 A/P mis1 trp39Minor allele frequency- C:0.01EA EU WA 2320
    rs3424621,2
    C,F,H88276505(-) AGGAGC/TGGGGG 1 -- ut31 ese36Minor allele frequency- T:0.18MN EU EA WA 1344
    About this table

    HapMap Linkage Disequilibrium images for AFF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 159557

    UniProtKB/Swiss-Prot: AFF1_HUMAN, P51825
  • A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation
    t(4;11)(q21;q23) with MLL/HRX. The result is a rogue activator protein
  • 6 Novoseek disease relationships for AFF1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoblastic leukemia acute 77.92 10 11719380 (1), 11493704 (1), 12433702 (1), 15221006 (1) (see all 9)
    acute leukemia 75.25 6 8353274 (1), 7698025 (1), 11527155 (1), 8378328 (1) (see all 6)
    leukemogenesis 70.29 6 9737688 (2), 9808577 (1), 9365243 (1)
    leukemia 69.17 20 9808577 (2), 9737688 (2), 9403001 (2), 17889710 (1) (see all 14)
    chromosomal aberrations 41.32 1 8506309 (1)
    tumors 4.40 2 8378328 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/75 PubMed articles for AFF1 gene (see all 75 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 4299 HGNC: 7135 AceView: MLLT2 Ensembl:ENSG00000172493 euGenes: HUgn4299
    ECgene: AFF1 H-InvDB: AFF1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for AFF1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AFF1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for AFF1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AFF1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
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     Search Novus for antibodies for AFF1

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