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    AFF1 AF4/FMR2 family, member 1 [ Homo sapiens (human) ]

    Gene ID: 4299, updated on 5-May-2013
    Official Symbol
    AFF1provided by HGNC
    Official Full Name
    AF4/FMR2 family, member 1provided by HGNC
    Primary source
    HGNC:7135
    See related
    Ensembl:ENSG00000172493; HPRD:08871; MIM:159557; Vega:OTTHUMG00000130603
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AF4; PBM1; MLLT2
    Location :
    4q21
    Sequence :
    Chromosome: 4; NC_000004.11 (87856154..88062206)
    See AFF1 in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506746 Neighboring gene actin related protein 2/3 complex subunit 1A pseudogene Neighboring gene trans-2,3-enoyl-CoA reductase pseudogene 1 Neighboring gene uracil-DNA glycosylase pseudogene Neighboring gene kelch-like family member 8 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 60

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population. Cen H, et al. Immunogenetics, 2012 Dec. PMID 22983539.
    2. The Role of RNA Polymerase II Elongation Control in HIV-1 Gene Expression, Replication, and Latency. Nilson KA, et al. Genet Res Int, 2011. PMID 22567366.
    3. Transcriptional and posttranscriptional regulation of HIV-1 gene expression. Karn J, et al. Cold Spring Harb Perspect Med, 2012 Feb. PMID 22355797.
    4. The mixed lineage leukemia (MLL) fusion-associated gene AF4 promotes CD133 transcription. Mak AB, et al. Cancer Res, 2012 Apr 15. PMID 22337994.
    5. A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. Okada Y, et al. PLoS Genet, 2012 Jan. PMID 22291604.

    See all (54) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. No association between AFF1 rs340630 and systemic lupus erythmatosus was found.
      Title: Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population.
    2. we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with Systemic lupus erythematosus susceptibility (rs340630; P = 8.3x10(-9), odds ratio = 1.21
      Title: A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese.
    3. our findings show AF4-dependent regulation of CD133 expression, which is required for the growth of acute lymphoblastic leukemia cells
      Title: The mixed lineage leukemia (MLL) fusion-associated gene AF4 promotes CD133 transcription.
    4. miR-143 functions as a tumor suppressor in MLL-AF4 B-cell acute lymphoblastic leukemia.
      Title: Methylation-mediated repression of microRNA-143 enhances MLL-AF4 oncogene expression.
    5. MLL-AF4 leukemogenesis has been particularly difficult to model and bona fide MLL-AF4 disease models do not exist so far.[review]
      Title: Insights into the cellular origin and etiology of the infant pro-B acute lymphoblastic leukemia with MLL-AF4 rearrangement.
    6. findings suggest that the AF4-MLL protein disturbs the fine-tuned activation cycle of promoter-arrested RNA Pol II and causes altered histone methylation signatures
      Title: The leukemogenic AF4-MLL fusion protein causes P-TEFb kinase activation and altered epigenetic signatures.
    7. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all (23)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    Tat, p14 tat HIV-1 Tat is identified to have a physical interaction with AF4/FMR2 family, member 1 (AFF1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    tat HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P51825 Q03111 MLLT1    HPRD  PubMed  
    P51825 P42568 MLLT3    HPRD  PubMed  
    P51825 Q8IUQ4 SIAH1    HPRD  PubMed  
    P51825 O43255 SIAH2    HPRD  PubMed  
    P51825 O15198 SMAD9    HPRD  PubMed  
    BioGRID:110445 BioGRID:110445 AFF1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:118016 AFF4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:117036 BRD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:115760 CARM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110445 BioGRID:107343 CCNT1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Two-hybrid 
    BioGRID:110445 BioGRID:107459 CDK9    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:108022 DDX6    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:124082 DOT1L    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:124514 EAF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:116595 ELL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:115860 HEXIM1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:113895 HIST3H3    BioGRID  PubMed Biochemical Activity 
    BioGRID:110445 BioGRID:110443 KMT2A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation; Co-purification 
    BioGRID:110445 BioGRID:114831 MED26    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:110444 MLLT1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Two-hybrid 
    BioGRID:110445 BioGRID:113723 MLLT10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:110446 MLLT3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:110929 NPM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:122135 NSD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110445 BioGRID:110962 NT5E    BioGRID  PubMed Two-hybrid 
    BioGRID:110445 BioGRID:111151 PCSK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:111426 POLR2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:111902 RELA    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110445 BioGRID:112372 SIAH1    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110445 BioGRID:112373 SIAH2    BioGRID  PubMed Far Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110445 BioGRID:110268 SMAD9    BioGRID  PubMed Two-hybrid 
    BioGRID:110445 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110445 BioGRID:1205541 tat    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC134969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    sequence-specific DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    regulation of transcription, DNA-dependent TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    AF4/FMR2 family member 1
    Names
    AF4/FMR2 family member 1
    protein AF-4
    proto-oncogene AF4
    pre-B-cell monocytic leukemia partner 1
    ALL1-fused gene from chromosome 4 protein
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001166693.1 → NP_001160165.1  AF4/FMR2 family member 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC092658, AK300364, BC114930, DC340279
      Consensus CDS
      CCDS54775.1
      UniProtKB/Swiss-Prot
      P51825
      UniProtKB/TrEMBL
      Q14C88
      Related
      ENSP00000378578, ENST00000395146
      Conserved Domains (1) summary
      pfam05110
      Location:518 – 1216
      Blast Score: 1476
      AF-4; AF-4 proto-oncoprotein

    2. NM_005935.2 → NP_005926.1  AF4/FMR2 family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) has a shorter, distinct N-terminus but the same C-terminus, compared to isoform 1.
      Source sequence(s)
      AC092658, L13773
      Consensus CDS
      CCDS3616.1
      UniProtKB/Swiss-Prot
      P51825
      Related
      ENSP00000305689, OTTHUMP00000161178, ENST00000307808, OTTHUMT00000253053
      Conserved Domains (1) summary
      pfam05110
      Location:511 – 1208
      Blast Score: 1484
      AF-4; AF-4 proto-oncoprotein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p10 Primary Assembly

      Range
      87856154..88062206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      83600862..83808030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018915.1 Alternate CHM1_1.0

      Range
      87664709..87870941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01063515.1 (15070..25297) None
    genomic ABBA01063516.1 None
    genomic ABBA01063517.1 None
    genomic ABBA01063518.1 None
    genomic ABBA01063519.1 None
    genomic ABBA01063520.1 None
    genomic ABBA01063521.1 None
    genomic ABBA01063522.1 None
    genomic AC092658.2 None
    genomic AC093779.3 AAY40899.1
    genomic AC093827.3 (159856..192263) None
    genomic AJ238093.1 CAB52416.1
    genomic AMYH01014371.1 (675816..693747) None
    genomic AMYH01014372.1 None
    genomic AMYH01014373.1 None
    genomic AMYH01014374.1 None
    genomic CH471057.1 EAX05978.1
      EAX05979.1
      EAX05980.1
    genomic X83606.1 CAA58585.1
    genomic Z83689.1 CAB69660.1
    mRNA AF024541.1 AAC51815.1
    mRNA AF177236.1 AAD56887.1
    mRNA AF177237.1 AAD56888.1
    mRNA AF177238.1 AAF09191.1
    mRNA AF177239.1 AAF09192.1
    mRNA AK296149.1 BAG58888.1
    mRNA AK296243.1 BAG58961.1
    mRNA AK300364.1 BAG62103.1
    mRNA BC017432.1 AAH17432.1
    mRNA BC114930.1 AAI14931.1
    mRNA DC340279.1 None
    mRNA L13773.1 AAA58360.1
    mRNA L25050.1 AAA36642.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51825.1 GenPept UniProtKB/Swiss-Prot:P51825

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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