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    MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 [ Homo sapiens ]

    Gene ID: 4301, updated on 19-May-2012

    Summary

    Official Symbol
    MLLT4provided by HGNC
    Official Full Name
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4provided by HGNC
    Primary source
    HGNC:7137
    Locus tag
    RP3-470B24.4
    See related
    Ensembl:ENSG00000130396; HPRD:01164; MIM:159559; Vega:OTTHUMG00000016031
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AF6; RP3-431P23.3; FLJ34371
    Summary
    This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

    Genomic context

    Location :
    6q27
    Sequence :
    Chromosome: 6; NC_000006.11 (168227671..168372700)
    See MLLT4 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 123 Neighboring gene uncharacterized LOC441179 Neighboring gene MLLT4 antisense RNA 1 (non-protein coding) Neighboring gene uncharacterized LOC100128124 Neighboring gene KIF25 antisense RNA 1 (non-protein coding)

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005927.1 NP_004431.1 EPHA7    BIND  PubMed EphA7 interacts with AF6. This interaction was modelled on a demonstrated interaction between human EphB6 and AF6 from an unspecified species. 
    NP_005927.1 NP_004433.2 EPHB2    BIND  PubMed EphB2 interacts with AF6. This interaction was modelled on a demonstrated interaction between EphB2 from human and mouse AF6. 
    NP_005927.1 NP_004434.2 EPHB3    BIND  PubMed EphB3 interacts with AF6. This interaction was modelled on a demonstrated interaction between EphB3 from human and mouse AF6. 
    NP_005927.1 NP_004436.1 EPHB6    BIND  PubMed EphB6 interacts with AF6. This interaction was modelled on a demonstrated interaction between EphB6 from mouse and AF6 from an unspecified species. 
    P55196 P11274 BCR    HPRD  PubMed  
    P55196 P35221 CTNNA1    HPRD  PubMed  
    P55196 Q15375 EPHA7    HPRD  PubMed  
    P55196 P29323 EPHB2    HPRD  PubMed  
    P55196 P54753 EPHB3    HPRD  PubMed  
    P55196 O15197 EPHB6    HPRD  PubMed  
    P55196 Q9Y624 F11R    HPRD  PubMed  
    P55196 P01112 HRAS    HPRD  PubMed  
    P55196 P78504 JAG1    HPRD  PubMed  
    P55196 P25791 LMO2    HPRD  PubMed  
    P55196 O14807 MRAS    HPRD  PubMed  
    P55196 Q9P2S2 NRXN2    HPRD  PubMed  
    P55196 Q9Y4C0 NRXN3    HPRD  PubMed  
    P55196 P07737 PFN1    HPRD  PubMed  
    P55196 Q9NRD5 PICK1    HPRD  PubMed  
    P55196 Q15223 PVRL1    HPRD  PubMed  
    P55196 Q92692 PVRL2    HPRD  PubMed  
    P55196 Q9NQS3 PVRL3    HPRD  PubMed  
    P55196 Poliovirus receptor related 4 PVRL4    HPRD  PubMed  
    P55196 Q12967 RALGDS    HPRD  PubMed  
    P55196 P62834 RAP1A    HPRD  PubMed  
    P55196 P47736 RAP1GAP    HPRD  PubMed  
    P55196 P10114 RAP2A    HPRD  PubMed  
    P55196 Q92963 RIT1    HPRD  PubMed  
    P55196 Q99578 RIT2    HPRD  PubMed  
    P55196 P10301 RRAS    HPRD  PubMed  
    P55196 P62070 RRAS2    HPRD  PubMed  
    P55196 Q15796 SMAD2    HPRD  PubMed  
    P55196 Q9BX66 SORBS1    HPRD  PubMed  
    P55196 Arg binding protein 2 SORBS2    HPRD  PubMed  
    P55196 Q9Y2D8 SSX2IP    HPRD  PubMed  
    P55196 Q07157 TJP1    HPRD  PubMed  
    P55196 Q93008 USP9X    HPRD  PubMed  
    P55196 P31946 YWHAB    HPRD  PubMed  
    P55196 P61981 YWHAG    HPRD  PubMed  
    BioGRID:110447 BioGRID:107083 BCR    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:107876 CTNNA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110447 BioGRID:108359 EPHA7    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:108362 EPHB2    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:108363 EPHB3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:108365 EPHB6    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:119153 F11R    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110447 BioGRID:109501 HRAS    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:106689 JAG1    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:110191 LMO2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110447 BioGRID:110384 MEN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110447 BioGRID:110443 MLL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110447 BioGRID:201483 Mras    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110447 BioGRID:110952 NRAS    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110447 BioGRID:114779 NRXN1    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:114780 NRXN2    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:114770 NRXN3    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:111237 PFN1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:111776 PVRL1    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:111777 PVRL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110447 BioGRID:117441 PVRL3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110447 BioGRID:111841 RAP1A    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:111844 RAP1GAP    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110447 BioGRID:114972 RIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:111948 RIT1    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:116480 RRAS2    BioGRID  PubMed Two-hybrid 
    BioGRID:110447 BioGRID:115831 SORBS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110447 BioGRID:114047 SORBS2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110447 BioGRID:125567 SSX2IP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110447 BioGRID:112937 TJP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110447 BioGRID:113867 USP9X    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110447 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110447 BioGRID:113364 YWHAG    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110447 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110447 BioGRID:99484 cgn    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junctions interactions, organism-specific biosystem (from REACTOME)
      Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein C-terminus binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction assembly TAS
    Traceable Author Statement
    more info
     
    cell-cell junction organization TAS
    Traceable Author Statement
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    afadin
    Names
    afadin
    protein AF-6
    ALL1-fused gene from chromosome 6 protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_029689.1 RefSeqGene

      Range
      5001..150030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040000.2NP_001035089.1  afadin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has several differences, including the presence of an in-frame coding exon, and the absence of several coding exons from the 3' end compared to variant 1. This results in an isoform (2) with a different and shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AB209420, AI271860, AK055689, BE503462, D60168
      Consensus CDS
      CCDS47517.1
      UniProtKB/Swiss-Prot
      P55196
      Related
      ENSP00000375956, OTTHUMP00000223317, ENST00000392108, OTTHUMT00000372078
      Conserved Domains (5) summary
      cd00060
      Location:410499
      Blast Score: 113
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00992
      Location:10071090
      Blast Score: 173
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01781
      Location:247346
      Blast Score: 455
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      Blast Score: 561
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      pfam01843
      Location:785891
      Blast Score: 297
      DIL; DIL domain
    2. NM_001207008.1NP_001193937.1  afadin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as AF6i3). This isoform, which contains a C-terminal F-actin-binding site, has been shown to be involved in the regulation of epithelial wound closure and intercellular adhesion (PMID:16882694).
      Source sequence(s)
      AB209420, AL049698, AL161973, BE645141, DA200453, DB079271
      UniProtKB/Swiss-Prot
      P55196
      Related
      ENSP00000375960, ENST00000392112
      Conserved Domains (5) summary
      cd00060
      Location:383483
      Blast Score: 116
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00992
      Location:9911073
      Blast Score: 110
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01781
      Location:246345
      Blast Score: 453
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      Blast Score: 559
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      pfam01843
      Location:769875
      Blast Score: 298
      DIL; DIL domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      168227671..168372700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      165693043..165800385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040001.1: Suppressed sequence

      Description
      NM_001040001.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    2. NM_005936.2: Suppressed sequence

      Description
      NM_005936.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB011399.1 BAA32483.1
      BAA32484.1
      BAA32485.1
    genomic AL009178.4 CAI20900.1
      CAI20901.1
      CAI20902.1
      CAI20903.1
      CAI20904.1
    genomic AL009178.4 CAI20900.1
      CAI20901.1
      CAI20902.1
      CAI20903.1
      CAI20904.1
    genomic AL009178.4 CAI20900.1
      CAI20901.1
      CAI20902.1
      CAI20903.1
      CAI20904.1
    genomic AL049698.3 CAI42812.1
      CAI42813.1
      CAI42814.1
      CAI42815.1
      CAI42816.1
    genomic AL731868.5 CAI40824.1
      CAI40825.1
      CAI40826.1
      CAI40827.1
      CAI40828.1
      CAI40829.1
      CAI40830.1
    genomic AL731868.5 CAI40824.1
      CAI40825.1
      CAI40826.1
      CAI40827.1
      CAI40828.1
      CAI40829.1
      CAI40830.1
    genomic AL732359.26 (814316..881641) None
    genomic CH471051.2 EAW47480.1
      EAW47481.1
      EAW47482.1
      EAW47483.1
      EAW47484.1
      EAW47485.1
      EAW47486.1
    genomic E13503.1 None
    mRNA AB209420.1 BAD92657.1
    mRNA AB621809.1 BAK64145.1
    mRNA AF085836.1 None
    mRNA AI271860.1 None
    mRNA AK055689.1 None
    mRNA AK091815.1 None
    mRNA AL161973.1 CAB82312.1
    mRNA BC014505.1 AAH14505.1
    mRNA BE503462.1 None
    mRNA BE645141.1 None
    mRNA BF732725.1 None
    mRNA BQ646972.1 None
    mRNA BX649158.1 None
    mRNA CA503365.1 None
    mRNA D60168.1 None
    mRNA DA200453.1 None
    mRNA DB079271.1 None
    mRNA U02478.1 AAC50059.1
    other-genetic BC156048.1 AAI56049.1
    other-genetic BC156934.1 AAI56935.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55196.3 GenPept UniProtKB/Swiss-Prot:P55196
    Q5JPV5 GenPept UniProtKB/TrEMBL:Q5JPV5
    Q5TIG5 GenPept UniProtKB/TrEMBL:Q5TIG5
    Q5TIH0 GenPept UniProtKB/TrEMBL:Q5TIH0
    Q96C95 GenPept UniProtKB/TrEMBL:Q96C95
    Q9UM08 GenPept UniProtKB/TrEMBL:Q9UM08

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