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    AFDN afadin, adherens junction formation factor [ Homo sapiens (human) ]

    Gene ID: 4301, updated on 8-May-2017
    Official Symbol
    AFDNprovided by HGNC
    Official Full Name
    afadin, adherens junction formation factorprovided by HGNC
    Primary source
    HGNC:HGNC:7137
    See related
    Ensembl:ENSG00000130396 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; MLLT4; MLL-AF6; l-afadin
    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]
    Orthologs
    Location:
    6q27
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (167826872..167972023)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (168227602..168372703)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1558 Neighboring gene uncharacterized LOC441179 Neighboring gene AFDN antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC107986673 Neighboring gene uncharacterized LOC100128124 Neighboring gene KIF25 antisense RNA 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4 (MLLT4, Afadin) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    Tat tat The expression of MLLT4 gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ34371

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Ras GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein C-terminus binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    establishment of endothelial intestinal barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    afadin
    Names
    ALL1-fused gene from chromosome 6 protein
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
    myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4
    protein AF-6

    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 compared to variant 4. The resulting isoform (2) is longer at the N-terminus but has a shorter and distinct C-terminus compared to isoform 4.
      Source sequence(s)
      AB209420, AI271860, AK055689, BE503462, D60168
      Consensus CDS
      CCDS47517.1
      UniProtKB/Swiss-Prot
      P55196
      Related
      ENSP00000375956.3, OTTHUMP00000223317, ENST00000392108.7, OTTHUMT00000372078
      Conserved Domains (5) summary
      cd01781
      Location:247346
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:417499
      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 ...
      cd15471
      Location:611932
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:10081090
      PDZ; PDZ domain (Also known as DHR or GLGF)
    2. NM_001207008.1NP_001193937.1  afadin isoform 1

      See identical proteins and their annotated locations for NP_001193937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has multiple differences compared to variant 4. The resulting isoform (1, also known as AF6i3) contains a C-terminal F-actin-binding site and 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
      Consensus CDS
      CCDS75553.1
      UniProtKB/Swiss-Prot
      P55196
      Related
      ENSP00000375960.2, ENST00000392112.5
      Conserved Domains (5) summary
      cd01781
      Location:246345
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:383483
      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
      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) ...
      cd15471
      Location:595916
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
    3. NM_001291964.1NP_001278893.1  afadin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AB621809, AL009178, AL049698, AL161973
      Consensus CDS
      CCDS78199.1
      UniProtKB/Swiss-Prot
      P55196
      UniProtKB/TrEMBL
      A8MQ02, G1UI22
      Related
      ENSP00000355771.3, ENST00000366806.6
      Conserved Domains (5) summary
      cd01781
      Location:206305
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd00060
      Location:376458
      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 ...
      cd15471
      Location:570891
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:9671049
      PDZ; PDZ domain (Also known as DHR or GLGF)
      cl00155
      Location:190
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      167826872..167972023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010879.1XP_016866368.1  afadin isoform X2

      UniProtKB/TrEMBL
      J3KN01
      Related
      ENSP00000252692.5, OTTHUMP00000017635, ENST00000351017.8, OTTHUMT00000043151
    2. XM_005266996.3XP_005267053.1  afadin isoform X6

      See identical proteins and their annotated locations for XP_005267053.1

      UniProtKB/Swiss-Prot
      P55196
      Related
      ENSP00000404595.2, OTTHUMP00000223316, ENST00000447894.6, OTTHUMT00000372077
      Conserved Domains (5) summary
      cd01781
      Location:247346
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:417499
      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 ...
      cd15471
      Location:611932
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:10081090
      PDZ; PDZ domain (Also known as DHR or GLGF)
    3. XM_011535842.2XP_011534144.1  afadin isoform X13

      Conserved Domains (5) summary
      cd01781
      Location:247346
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:417499
      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 ...
      cd15471
      Location:611932
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:10081090
      PDZ; PDZ domain (Also known as DHR or GLGF)
    4. XM_017010884.1XP_016866373.1  afadin isoform X9

    5. XM_017010886.1XP_016866375.1  afadin isoform X11

    6. XM_017010878.1XP_016866367.1  afadin isoform X1

    7. XM_006715491.2XP_006715554.1  afadin isoform X12

      Conserved Domains (5) summary
      cd01781
      Location:248347
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20132
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:418500
      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 ...
      cd15471
      Location:612940
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:10161098
      PDZ; PDZ domain (Also known as DHR or GLGF)
    8. XM_017010882.1XP_016866371.1  afadin isoform X5

    9. XM_005266997.2XP_005267054.1  afadin isoform X7

      Conserved Domains (5) summary
      cd01781
      Location:248347
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20132
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:418500
      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 ...
      cd15471
      Location:612933
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:10091091
      PDZ; PDZ domain (Also known as DHR or GLGF)
    10. XM_017010883.1XP_016866372.1  afadin isoform X8

    11. XM_017010881.1XP_016866370.1  afadin isoform X4

    12. XM_017010885.1XP_016866374.1  afadin isoform X10

      Conserved Domains (5) summary
      cd01781
      Location:246345
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:383483
      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 ...
      cd15471
      Location:595916
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:9921074
      PDZ; PDZ domain (Also known as DHR or GLGF)
    13. XM_006715494.3XP_006715557.1  afadin isoform X15

      Conserved Domains (5) summary
      cd01781
      Location:246345
      AF6_RA_repeat2; Ubiquitin domain of AT-6, second repeat
      cd01782
      Location:20131
      AF6_RA_repeat1; Ubiquitin domain of AT-6, first repeat
      cd00060
      Location:383483
      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 ...
      cd15471
      Location:595916
      Myo5p-like_CBD_afadin; cargo binding domain of myosin 5-like of afadin
      pfam00595
      Location:9921074
      PDZ; PDZ domain (Also known as DHR or GLGF)
    14. XM_017010880.1XP_016866369.1  afadin isoform X3

    15. XM_017010887.1XP_016866376.1  afadin isoform X14

    RNA

    1. XR_001743427.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      168490726..168635428
      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.
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