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P55196

- AFAD_HUMAN

UniProt

P55196 - AFAD_HUMAN

Protein

Afadin

Gene

MLLT4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 3 (09 Feb 2010)
      Previous versions | rss
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    Functioni

    Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei26 – 261Breakpoint for translocation to form KMT2A/MLL1-MLLT4

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein C-terminus binding Source: ProtInc

    GO - Biological processi

    1. adherens junction organization Source: Reactome
    2. cell adhesion Source: ProtInc
    3. cell-cell junction organization Source: Reactome
    4. cell-cell signaling Source: ProtInc
    5. cell junction assembly Source: Reactome
    6. signal transduction Source: ProtInc

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_19195. Adherens junctions interactions.
    SignaLinkiP55196.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Afadin
    Alternative name(s):
    ALL1-fused gene from chromosome 6 protein
    Short name:
    Protein AF-6
    Gene namesi
    Name:MLLT4
    Synonyms:AF6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:7137. MLLT4.

    Subcellular locationi

    Cell junctionadherens junction
    Note: Not found at cell-matrix AJs.

    GO - Cellular componenti

    1. apical part of cell Source: Ensembl
    2. cell-cell adherens junction Source: Ensembl
    3. cell-cell junction Source: ProtInc
    4. cell junction Source: HPA
    5. cytoplasm Source: HPA
    6. cytosol Source: Reactome
    7. nucleus Source: HPA
    8. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cell junction

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving MLLT4 is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.

    Keywords - Diseasei

    Proto-oncogene

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18241824AfadinPRO_0000215918Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei216 – 2161Phosphoserine1 Publication
    Modified residuei557 – 5571PhosphoserineBy similarity
    Modified residuei1107 – 11071Phosphoserine1 Publication
    Modified residuei1182 – 11821Phosphoserine4 Publications
    Modified residuei1232 – 12321Phosphothreonine1 Publication
    Modified residuei1721 – 17211Phosphoserine3 Publications
    Modified residuei1779 – 17791Phosphoserine2 Publications
    Modified residuei1799 – 17991Phosphoserine2 Publications
    Modified residuei1807 – 18071N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP55196.
    PaxDbiP55196.
    PRIDEiP55196.

    PTM databases

    PhosphoSiteiP55196.

    Expressioni

    Gene expression databases

    ArrayExpressiP55196.
    BgeeiP55196.
    CleanExiHS_MLLT4.
    GenevestigatoriP55196.

    Organism-specific databases

    HPAiCAB013496.
    HPA030212.
    HPA030213.
    HPA030214.
    HPA030215.
    HPA049868.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with F-actin, nectin and PVRL3/nectin-3. Essential for the association of nectin and E-cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 By similarity. Interacts with NRXN1 and BCR.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DBN1Q166434EBI-365875,EBI-351394
    PVRL2Q926922EBI-365875,EBI-718419
    SRCP129317EBI-365875,EBI-621482

    Protein-protein interaction databases

    BioGridi110447. 47 interactions.
    IntActiP55196. 22 interactions.
    MINTiMINT-90828.
    STRINGi9606.ENSP00000383623.

    Structurei

    Secondary structure

    1
    1824
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi1006 – 10138
    Beta strandi1015 – 10173
    Beta strandi1020 – 10256
    Beta strandi1028 – 10314
    Beta strandi1034 – 10407
    Beta strandi1042 – 10443
    Helixi1045 – 10495
    Beta strandi1054 – 10618
    Helixi1071 – 10799
    Beta strandi1083 – 10919

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1T2MNMR-A1003-1094[»]
    1XZ9NMR-A1001-1096[»]
    2AINNMR-A1003-1094[»]
    2EXGNMR-A1001-1096[»]
    ProteinModelPortaliP55196.
    SMRiP55196. Positions 42-134, 249-348, 374-503, 603-956, 1001-1096, 1521-1687.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP55196.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 13395Ras-associating 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini246 – 348103Ras-associating 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini426 – 49267FHAAdd
    BLAST
    Domaini668 – 908241DilutePROSITE-ProRule annotationAdd
    BLAST
    Domaini1007 – 109387PDZPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili146 – 18540Sequence AnalysisAdd
    BLAST
    Coiled coili1408 – 144841Sequence AnalysisAdd
    BLAST
    Coiled coili1523 – 1667145Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi163 – 17513Glu/Lys-richAdd
    BLAST
    Compositional biasi1346 – 139247Pro-richAdd
    BLAST
    Compositional biasi1578 – 158811Asp/Glu-rich (acidic)Add
    BLAST
    Compositional biasi1678 – 170831Pro-richAdd
    BLAST

    Domaini

    The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.

    Sequence similaritiesi

    Contains 1 dilute domain.PROSITE-ProRule annotation
    Contains 1 FHA domain.Curated
    Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation
    Contains 2 Ras-associating domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG291597.
    HOVERGENiHBG050463.
    KOiK05702.
    OMAiLIPHTRS.
    PhylomeDBiP55196.
    TreeFamiTF350731.

    Family and domain databases

    Gene3Di2.30.42.10. 1 hit.
    2.60.200.20. 1 hit.
    InterProiIPR018444. Dil_domain.
    IPR002710. Dilute.
    IPR000253. FHA_dom.
    IPR001478. PDZ.
    IPR000159. Ras-assoc.
    IPR008984. SMAD_FHA_domain.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF01843. DIL. 1 hit.
    PF00498. FHA. 1 hit.
    PF00595. PDZ. 1 hit.
    PF00788. RA. 2 hits.
    [Graphical view]
    SMARTiSM00240. FHA. 1 hit.
    SM00228. PDZ. 1 hit.
    SM00314. RA. 2 hits.
    [Graphical view]
    SUPFAMiSSF49879. SSF49879. 1 hit.
    SSF50156. SSF50156. 1 hit.
    SSF54236. SSF54236. 2 hits.
    PROSITEiPS51126. DILUTE. 1 hit.
    PS50106. PDZ. 1 hit.
    PS50200. RA. 2 hits.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 4 (identifier: P55196-4) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSAGGRDEER RKLADIIHHW NANRLDLFEI SQPTEDLEFH GVMRFYFQDK     50
    AAGNFATKCI RVSSTATTQD VIETLAEKFR PDMRMLSSPK YSLYEVHVSG 100
    ERRLDIDEKP LVVQLNWNKD DREGRFVLKN ENDAIPPKKA QSNGPEKQEK 150
    EGVIQNFKRT LSKKEKKEKK KREKEALRQA SDKDDRPFQG EDVENSRLAA 200
    EVYKDMPETS FTRTISNPEV VMKRRRQQKL EKRMQEFRSS DGRPDSGGTL 250
    RIYADSLKPN IPYKTILLST TDPADFAVAE ALEKYGLEKE NPKDYCIARV 300
    MLPPGAQHSD EKGAKEIILD DDECPLQIFR EWPSDKGILV FQLKRRPPDH 350
    IPKKTKKHLE GKTPKGKERA DGSGYGSTLP PEKLPYLVEL SPGRRNHFAY 400
    YNYHTYEDGS DSRDKPKLYR LQLSVTEVGT EKLDDNSIQL FGPGIQPHHC 450
    DLTNMDGVVT VTPRSMDAET YVEGQRISET TMLQSGMKVQ FGASHVFKFV 500
    DPSQDHALAK RSVDGGLMVK GPRHKPGIVQ ETTFDLGGDI HSGTALPTSK 550
    STTRLDSDRV SSASSTAERG MVKPMIRVEQ QPDYRRQESR TQDASGPELI 600
    LPASIEFRES SEDSFLSAII NYTNSSTVHF KLSPTYVLYM ACRYVLSNQY 650
    RPDISPTERT HKVIAVVNKM VSMMEGVIQK QKNIAGALAF WMANASELLN 700
    FIKQDRDLSR ITLDAQDVLA HLVQMAFKYL VHCLQSELNN YMPAFLDDPE 750
    ENSLQRPKID DVLHTLTGAM SLLRRCRVNA ALTIQLFSQL FHFINMWLFN 800
    RLVTDPDSGL CSHYWGAIIR QQLGHIEAWA EKQGLELAAD CHLSRIVQAT 850
    TLLTMDKYAP DDIPNINSTC FKLNSLQLQA LLQNYHCAPD EPFIPTDLIE 900
    NVVTVAENTA DELARSDGRE VQLEEDPDLQ LPFLLPEDGY SCDVVRNIPN 950
    GLQEFLDPLC QRGFCRLIPH TRSPGTWTIY FEGADYESHL LRENTELAQP 1000
    LRKEPEIITV TLKKQNGMGL SIVAAKGAGQ DKLGIYVKSV VKGGAADVDG 1050
    RLAAGDQLLS VDGRSLVGLS QERAAELMTR TSSVVTLEVA KQGAIYHGLA 1100
    TLLNQPSPMM QRISDRRGSG KPRPKSEGFE LYNNSTQNGS PESPQLPWAE 1150
    YSEPKKLPGD DRLMKNRADH RSSPNVANQP PSPGGKSAYA SGTTAKITSV 1200
    STGNLCTEEQ TPPPRPEAYP IPTQTYTREY FTFPASKSQD RMAPPQNQWP 1250
    NYEEKPHMHT DSNHSSIAIQ RVTRSQEELR EDKAYQLERH RIEAAMDRKS 1300
    DSDMWINQSS SLDSSTSSQE HLNHSSKSVT PASTLTKSGP GRWKTPAAIP 1350
    ATPVAVSQPI RTDLPPPPPP PPVHYAGDFD GMSMDLPLPP PPSANQIGLP 1400
    SAQVAAAERR KREEHQRWYE KEKARLEEER ERKRREQERK LGQMRTQSLN 1450
    PAPFSPLTAQ QMKPEKPSTL QRPQETVIRE LQPQQQPRTI ERRDLQYITV 1500
    SKEELSSGDS LSPDPWKRDA KEKLEKQQQM HIVDMLSKEI QELQSKPDRS 1550
    AEESDRLRKL MLEWQFQKRL QESKQKDEDD EEEEDDDVDT MLIMQRLEAE 1600
    RRARLQDEER RRQQQLEEMR KREAEDRARQ EEERRRQEEE RTKRDAEEKR 1650
    RQEEGYYSRL EAERRRQHDE AARRLLEPEA PGLCRPPLPR DYEPPSPSPA 1700
    PGAPPPPPQR NASYLKTQVL SPDSLFTAKF VAYNEEEEEE DCSLAGPNSY 1750
    PGSTGAAVGA HDACRDAKEK RSKSQDADSP GSSGAPENLT FKERQRLFSQ 1800
    GQDVSNKVKA SRKLTELENE LNTK 1824
    Length:1,824
    Mass (Da):206,804
    Last modified:February 9, 2010 - v3
    Checksum:i51486232F183A3BA
    GO
    Isoform 1 (identifier: P55196-2) [UniParc]FASTAAdd to Basket

    Also known as: s-afadin

    The sequence of this isoform differs from the canonical sequence as follows:
         139-139: Missing.
         393-407: Missing.
         1605-1628: LQDEERRRQQQLEEMRKREAEDRA → VKGGVLWLCPSVVPILASACFPWG
         1629-1824: Missing.

    Note: May be due to intron retention.Curated

    Show »
    Length:1,612
    Mass (Da):182,000
    Checksum:i202D7BEC1E825AB6
    GO
    Isoform 2 (identifier: P55196-1) [UniParc]FASTAAdd to Basket

    Also known as: l-afadin

    The sequence of this isoform differs from the canonical sequence as follows:
         139-139: Missing.
         393-407: Missing.
         1048-1048: Missing.
         1747-1824: PNSYPGSTGA...TELENELNTK → QDKYSSTRKS...KRVTNQLSLS

    Note: May be due to intron retention.

    Show »
    Length:1,816
    Mass (Da):205,605
    Checksum:iEB1FE7F04879CE8F
    GO
    Isoform 3 (identifier: P55196-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         139-139: Missing.
         393-407: Missing.
         1048-1048: Missing.
         1683-1746: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,743
    Mass (Da):197,653
    Checksum:iECCDE46AD8C401B9
    GO
    Isoform 6 (identifier: P55196-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1605-1606: Missing.
         1650-1653: RRQE → VMVL
         1654-1824: Missing.

    Show »
    Length:1,651
    Mass (Da):187,672
    Checksum:i6F55A481FC0DB6B3
    GO
    Isoform 5 (identifier: P55196-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         139-139: Missing.
         1604-1604: R → RTAMPAISVLDL

    Note: No experimental confirmation available.

    Show »
    Length:1,834
    Mass (Da):207,788
    Checksum:i3D57FDBD6A521DFD
    GO

    Sequence cautioni

    The sequence CAB82312.1 differs from that shown. Reason: Frameshift at positions 1509, 1512 and 1701.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti374 – 3741G → V in AAC50059. (PubMed:8242616)Curated
    Sequence conflicti1425 – 14251R → P in AAC50059. (PubMed:8242616)Curated
    Isoform 1 (identifier: P55196-2)
    Sequence conflicti1031 – 10322DV → D in AAC50059. (PubMed:8242616)Curated
    Sequence conflicti1031 – 10322DV → D in BAA32485. (PubMed:9679199)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei139 – 1391Missing in isoform 1, isoform 2, isoform 3 and isoform 5. 2 PublicationsVSP_038707
    Alternative sequencei393 – 40715Missing in isoform 1, isoform 2 and isoform 3. 1 PublicationVSP_038708Add
    BLAST
    Alternative sequencei1048 – 10481Missing in isoform 2 and isoform 3. CuratedVSP_038709
    Alternative sequencei1604 – 16041R → RTAMPAISVLDL in isoform 5. 1 PublicationVSP_019257
    Alternative sequencei1605 – 162824LQDEE…AEDRA → VKGGVLWLCPSVVPILASAC FPWG in isoform 1. 1 PublicationVSP_000217Add
    BLAST
    Alternative sequencei1605 – 16062Missing in isoform 6. 1 PublicationVSP_041197
    Alternative sequencei1629 – 1824196Missing in isoform 1. 1 PublicationVSP_000218Add
    BLAST
    Alternative sequencei1650 – 16534RRQE → VMVL in isoform 6. 1 PublicationVSP_041198
    Alternative sequencei1654 – 1824171Missing in isoform 6. 1 PublicationVSP_041199Add
    BLAST
    Alternative sequencei1683 – 174664Missing in isoform 3. CuratedVSP_038710Add
    BLAST
    Alternative sequencei1747 – 182478PNSYP…ELNTK → QDKYSSTRKSHGDLLPAPLK PRPPPCQPRPASDGVFLSNS FQPPSAKANSTAHKKGQPLP PPKKSSSYHPSHCKGRGKRV TNQLSLS in isoform 2. CuratedVSP_038711Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U02478 mRNA. Translation: AAC50059.1.
    AB011399 Genomic DNA. Translation: BAA32483.1.
    AB011399 Genomic DNA. Translation: BAA32484.1.
    AB011399 Genomic DNA. Translation: BAA32485.1.
    AL009178, AL049698, AL731868 Genomic DNA. Translation: CAI20900.1.
    AL009178, AL049698, AL731868 Genomic DNA. Translation: CAI20902.1.
    AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40824.1.
    AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40826.1.
    AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42812.1.
    AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42814.1.
    CH471051 Genomic DNA. Translation: EAW47482.1.
    AB209420 mRNA. Translation: BAD92657.1.
    AL161973 mRNA. Translation: CAB82312.1. Frameshift.
    CCDSiCCDS47517.1. [P55196-6]
    PIRiT47137.
    RefSeqiNP_001035089.1. NM_001040000.2. [P55196-6]
    NP_001193937.1. NM_001207008.1. [P55196-3]
    XP_005267053.1. XM_005266996.1. [P55196-4]
    UniGeneiHs.614974.
    Hs.728849.
    Hs.741785.

    Genome annotation databases

    EnsembliENST00000392108; ENSP00000375956; ENSG00000130396. [P55196-6]
    ENST00000400822; ENSP00000383623; ENSG00000130396. [P55196-5]
    ENST00000447894; ENSP00000404595; ENSG00000130396. [P55196-4]
    GeneIDi4301.
    KEGGihsa:4301.
    UCSCiuc003qwb.1. human. [P55196-2]
    uc003qwc.2. human. [P55196-6]
    uc003qwg.1. human. [P55196-4]
    uc021zij.1. human. [P55196-3]

    Polymorphism databases

    DMDMi288558835.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U02478 mRNA. Translation: AAC50059.1 .
    AB011399 Genomic DNA. Translation: BAA32483.1 .
    AB011399 Genomic DNA. Translation: BAA32484.1 .
    AB011399 Genomic DNA. Translation: BAA32485.1 .
    AL009178 , AL049698 , AL731868 Genomic DNA. Translation: CAI20900.1 .
    AL009178 , AL049698 , AL731868 Genomic DNA. Translation: CAI20902.1 .
    AL731868 , AL009178 , AL049698 Genomic DNA. Translation: CAI40824.1 .
    AL731868 , AL009178 , AL049698 Genomic DNA. Translation: CAI40826.1 .
    AL049698 , AL009178 , AL731868 Genomic DNA. Translation: CAI42812.1 .
    AL049698 , AL009178 , AL731868 Genomic DNA. Translation: CAI42814.1 .
    CH471051 Genomic DNA. Translation: EAW47482.1 .
    AB209420 mRNA. Translation: BAD92657.1 .
    AL161973 mRNA. Translation: CAB82312.1 . Frameshift.
    CCDSi CCDS47517.1. [P55196-6 ]
    PIRi T47137.
    RefSeqi NP_001035089.1. NM_001040000.2. [P55196-6 ]
    NP_001193937.1. NM_001207008.1. [P55196-3 ]
    XP_005267053.1. XM_005266996.1. [P55196-4 ]
    UniGenei Hs.614974.
    Hs.728849.
    Hs.741785.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1T2M NMR - A 1003-1094 [» ]
    1XZ9 NMR - A 1001-1096 [» ]
    2AIN NMR - A 1003-1094 [» ]
    2EXG NMR - A 1001-1096 [» ]
    ProteinModelPortali P55196.
    SMRi P55196. Positions 42-134, 249-348, 374-503, 603-956, 1001-1096, 1521-1687.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110447. 47 interactions.
    IntActi P55196. 22 interactions.
    MINTi MINT-90828.
    STRINGi 9606.ENSP00000383623.

    PTM databases

    PhosphoSitei P55196.

    Polymorphism databases

    DMDMi 288558835.

    Proteomic databases

    MaxQBi P55196.
    PaxDbi P55196.
    PRIDEi P55196.

    Protocols and materials databases

    DNASUi 4301.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000392108 ; ENSP00000375956 ; ENSG00000130396 . [P55196-6 ]
    ENST00000400822 ; ENSP00000383623 ; ENSG00000130396 . [P55196-5 ]
    ENST00000447894 ; ENSP00000404595 ; ENSG00000130396 . [P55196-4 ]
    GeneIDi 4301.
    KEGGi hsa:4301.
    UCSCi uc003qwb.1. human. [P55196-2 ]
    uc003qwc.2. human. [P55196-6 ]
    uc003qwg.1. human. [P55196-4 ]
    uc021zij.1. human. [P55196-3 ]

    Organism-specific databases

    CTDi 4301.
    GeneCardsi GC06P168227.
    HGNCi HGNC:7137. MLLT4.
    HPAi CAB013496.
    HPA030212.
    HPA030213.
    HPA030214.
    HPA030215.
    HPA049868.
    MIMi 159559. gene.
    neXtProti NX_P55196.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291597.
    HOVERGENi HBG050463.
    KOi K05702.
    OMAi LIPHTRS.
    PhylomeDBi P55196.
    TreeFami TF350731.

    Enzyme and pathway databases

    Reactomei REACT_19195. Adherens junctions interactions.
    SignaLinki P55196.

    Miscellaneous databases

    ChiTaRSi MLLT4. human.
    EvolutionaryTracei P55196.
    GeneWikii MLLT4.
    GenomeRNAii 4301.
    NextBioi 16931.
    PROi P55196.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P55196.
    Bgeei P55196.
    CleanExi HS_MLLT4.
    Genevestigatori P55196.

    Family and domain databases

    Gene3Di 2.30.42.10. 1 hit.
    2.60.200.20. 1 hit.
    InterProi IPR018444. Dil_domain.
    IPR002710. Dilute.
    IPR000253. FHA_dom.
    IPR001478. PDZ.
    IPR000159. Ras-assoc.
    IPR008984. SMAD_FHA_domain.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF01843. DIL. 1 hit.
    PF00498. FHA. 1 hit.
    PF00595. PDZ. 1 hit.
    PF00788. RA. 2 hits.
    [Graphical view ]
    SMARTi SM00240. FHA. 1 hit.
    SM00228. PDZ. 1 hit.
    SM00314. RA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49879. SSF49879. 1 hit.
    SSF50156. SSF50156. 1 hit.
    SSF54236. SSF54236. 2 hits.
    PROSITEi PS51126. DILUTE. 1 hit.
    PS50106. PDZ. 1 hit.
    PS50200. RA. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation."
      Prasad R., Gu Y., Alder H., Nakamura T., Canaani O., Saito H., Huebner K., Gale R.P., Nowell P.C., Kuriyama K., Miyazaki Y., Croce C.M., Canaani E.
      Cancer Res. 53:5624-5628(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH KMT2A.
    2. "Complete genomic structure, DNA polymorphisms, and alternative splicing of the human AF-6 gene."
      Saito S., Matsushima M., Shirahama S., Minaguchi T., Kanamori Y., Minami M., Nakamura Y.
      DNA Res. 5:115-120(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3).
      Tissue: Fetal brain.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Homo sapiens protein coding cDNA."
      Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 13-1824 (ISOFORM 6).
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 335-1824 (ISOFORM 5).
      Tissue: Amygdala.
    7. "Human nectin3/PRR3: a novel member of the PVR/PRR/nectin family that interacts with afadin."
      Reymond N., Borg J.-P., Lecocq E., Adelaide J., Campadelli-Fiume G., Dubreuil P., Lopez M.
      Gene 255:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PVRL3.
    8. "Nectin and afadin: novel organizers of intercellular junctions."
      Takai Y., Nakanishi H.
      J. Cell Sci. 116:17-27(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON INTERACTION.
    9. "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry."
      Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C.
      Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1182, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction."
      Tang L.-Y., Deng N., Wang L.-S., Dai J., Wang Z.-L., Jiang X.-S., Li S.-J., Li L., Sheng Q.-H., Wu D.-Q., Li L., Zeng R.
      Mol. Cell. Proteomics 6:1952-1967(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1182, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    11. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-216; SER-1107; SER-1182; THR-1232; SER-1721; SER-1779 AND SER-1799, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1182 AND SER-1721, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1721; SER-1779 AND SER-1799, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. "Solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and Bcr."
      Zhou H., Xu Y., Yang Y., Huang A., Wu J., Shi Y.
      J. Biol. Chem. 280:13841-13847(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 1003-1094 IN COMPLEX WITH NRXN1 AND BCR.
    18. Cited for: STRUCTURE BY NMR OF 1001-1095.

    Entry informationi

    Entry nameiAFAD_HUMAN
    AccessioniPrimary (citable) accession number: P55196
    Secondary accession number(s): O75087
    , O75088, O75089, Q59FP0, Q5TIG6, Q5TIG7, Q9NSN7, Q9NU92
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: February 9, 2010
    Last modified: October 1, 2014
    This is version 158 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3