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Q18PE1

- DOK7_HUMAN

UniProt

Q18PE1 - DOK7_HUMAN

Protein

Protein Dok-7

Gene

DOK7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 1 (25 Jul 2006)
      Previous versions | rss
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    Functioni

    Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.1 Publication

    GO - Molecular functioni

    1. phosphatidylinositol binding Source: Ensembl
    2. protein kinase binding Source: UniProtKB

    GO - Biological processi

    1. neuromuscular junction development Source: Ensembl
    2. positive regulation of protein tyrosine kinase activity Source: UniProtKB
    3. receptor clustering Source: Ensembl

    Keywords - Ligandi

    Lipid-binding

    Enzyme and pathway databases

    SignaLinkiQ18PE1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Dok-7
    Alternative name(s):
    Downstream of tyrosine kinase 7
    Gene namesi
    Name:DOK7
    Synonyms:C4orf25
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:26594. DOK7.

    Subcellular locationi

    Cell membrane By similarity; Peripheral membrane protein By similarity. Cell junctionsynapse By similarity
    Note: Accumulates at neuromuscular junctions.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. neuromuscular junction Source: Ensembl
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Myasthenia, limb-girdle, familial (LGM) [MIM:254300]: A congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31E → K in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068750
    Natural varianti31 – 311P → T in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068751
    Natural varianti33 – 331A → V in LGM; results in reduced stimulation of MUSK autophosphorylation. 1 Publication
    VAR_068752
    Natural varianti77 – 771T → M in LGM; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 Publication
    VAR_068754
    Natural varianti109 – 1091G → C in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068756
    Natural varianti116 – 1161V → M in LGM. 1 Publication
    VAR_068757
    Natural varianti132 – 1321H → Q in LGM. 1 Publication
    VAR_068758
    Natural varianti139 – 1391V → L in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068759
    Natural varianti146 – 1461P → L in LGM. 1 Publication
    VAR_068760
    Natural varianti157 – 1571L → R in LGM. 1 Publication
    VAR_068761
    Natural varianti158 – 1581R → Q in LGM; reduced stimulation of MUSK autophosphorylation when associated with A-174; results in a significant reduction of AChR clusters. 1 Publication
    Corresponds to variant rs6811423 [ dbSNP | Ensembl ].
    VAR_031246
    Natural varianti161 – 1611G → R in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068762
    Natural varianti166 – 1661G → R in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068763
    Natural varianti171 – 1711G → D in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068764
    Natural varianti171 – 1711G → R in LGM. 1 Publication
    VAR_068765
    Natural varianti172 – 1721G → R in LGM. 1 Publication
    VAR_068766
    Natural varianti180 – 1801G → A in LGM; results in a significant reduction of AChR clusters. 2 Publications
    VAR_027544
    Natural varianti180 – 1801G → V in LGM. 1 Publication
    VAR_068767
    Natural varianti469 – 4691P → H in LGM. 1 Publication
    Corresponds to variant rs147185207 [ dbSNP | Ensembl ].
    VAR_068773

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi30 – 301S → W: Reduced stimulation of MUSK autophosphorylation. 1 Publication
    Mutagenesisi32 – 321V → A: Reduced stimulation of MUSK autophosphorylation. 1 Publication
    Mutagenesisi174 – 1741R → A: Reduced stimulation of MUSK autophosphorylation; when associated with Q-158. 1 Publication

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi254300. phenotype.
    Orphaneti994. Fetal akinesia deformation sequence.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBiPA162384035.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 504504Protein Dok-7PRO_0000250371Add
    BLAST

    Proteomic databases

    PaxDbiQ18PE1.
    PRIDEiQ18PE1.

    PTM databases

    PhosphoSiteiQ18PE1.

    Expressioni

    Tissue specificityi

    Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ18PE1.
    BgeeiQ18PE1.
    CleanExiHS_DOK7.
    GenevestigatoriQ18PE1.

    Organism-specific databases

    HPAiHPA059449.

    Interactioni

    Subunit structurei

    Homodimer By similarity. Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation By similarity. Interacts (via IRS-type PTB domain) with MUSK (via cytoplasmic part); requires MUSK phosphorylation.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi130124. 1 interaction.
    IntActiQ18PE1. 1 interaction.
    STRINGi9606.ENSP00000344432.

    Structurei

    3D structure databases

    ProteinModelPortaliQ18PE1.
    SMRiQ18PE1. Positions 3-210.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 109106PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini105 – 210106IRS-type PTBPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi262 – 35998Ser-richAdd
    BLAST

    Domaini

    The PH domain mediated binding to phospholipids with phosphoinositol headgroups. Affinity is highest for phosphatidyl 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate By similarity.By similarity

    Sequence similaritiesi

    Contains 1 IRS-type PTB domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG69734.
    HOGENOMiHOG000230953.
    HOVERGENiHBG080009.
    OMAiSLDICHG.
    OrthoDBiEOG75B84J.
    PhylomeDBiQ18PE1.
    TreeFamiTF332288.

    Family and domain databases

    Gene3Di2.30.29.30. 2 hits.
    InterProiIPR002404. Insln_rcpt_S1.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view]
    PfamiPF02174. IRS. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    [Graphical view]
    PROSITEiPS51064. IRS_PTB. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q18PE1-1) [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

    MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG    50
    LRERSSLTLE DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW 100
    DARIRYALGE VHRFHVTVAP GTKLESGPAT LHLCNDVLVL ARDIPPAVTG 150
    QWKLSDLRRY GAVPSGFIFE GGTRCGYWAG VFFLSSAEGE QISFLFDCIV 200
    RGISPTKGPF GLRPVLPDPS PPGPSTVEER VAQEALETLQ LEKRLSLLSH 250
    AGRPGSGGDD RSLSSSSSEA SHLDVSASSR LTAWPEQSSS SASTSQEGPR 300
    PAAAQAAGEA MVGASRPPPK PLRPRQLQEV GRQSSSDSGI ATGSHSSYSS 350
    SLSSYAGSSL DVWRATDELG SLLSLPAAGA PEPSLCTCLP GTVEYQVPTS 400
    LRAHYDTPRS LCLAPRDHSP PSQGSPGNSA ARDSGGQTSA GCPSGWLGTR 450
    RRGLVMEAPQ GSEATLPGPA PGEPWEAGGP HAGPPPAFFS ACPVCGGLKV 500
    NPPP 504
    Length:504
    Mass (Da):53,097
    Last modified:July 25, 2006 - v1
    Checksum:i54750E0B0BC33317
    GO
    Isoform 2 (identifier: Q18PE1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-138: Missing.
         139-178: VLARDIPPAV...FEGGTRCGYW → MMSSSWPGTS...ADSSLKAGPG

    Note: No experimental confirmation available.

    Show »
    Length:366
    Mass (Da):37,161
    Checksum:i8CFC71602C970AC3
    GO
    Isoform 4 (identifier: Q18PE1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         175-255: CGYWAGVFFL...SLLSHAGRPG → GWRLLPVLGR...TCGQAGQWRG
         256-504: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:255
    Mass (Da):27,514
    Checksum:i098963FABA4A7185
    GO
    Isoform 3 (identifier: Q18PE1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         500-504: VNPPP → GAAASAPGPA...ELEQRKAAPQ

    Note: No experimental confirmation available.

    Show »
    Length:608
    Mass (Da):63,938
    Checksum:i384FFACAA0AD8359
    GO

    Sequence cautioni

    The sequence BAC11367.1 differs from that shown. Reason: Contains a poly-A tail in the 5'region.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31E → K in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068750
    Natural varianti31 – 311P → T in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068751
    Natural varianti33 – 331A → V in LGM; results in reduced stimulation of MUSK autophosphorylation. 1 Publication
    VAR_068752
    Natural varianti45 – 451S → L Does not affect AChR clusters number or complexity. 2 Publications
    Corresponds to variant rs62272670 [ dbSNP | Ensembl ].
    VAR_068753
    Natural varianti77 – 771T → M in LGM; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 Publication
    VAR_068754
    Natural varianti99 – 991A → V.1 Publication
    Corresponds to variant rs138010842 [ dbSNP | Ensembl ].
    VAR_068755
    Natural varianti109 – 1091G → C in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068756
    Natural varianti116 – 1161V → M in LGM. 1 Publication
    VAR_068757
    Natural varianti132 – 1321H → Q in LGM. 1 Publication
    VAR_068758
    Natural varianti139 – 1391V → L in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068759
    Natural varianti146 – 1461P → L in LGM. 1 Publication
    VAR_068760
    Natural varianti157 – 1571L → R in LGM. 1 Publication
    VAR_068761
    Natural varianti158 – 1581R → Q in LGM; reduced stimulation of MUSK autophosphorylation when associated with A-174; results in a significant reduction of AChR clusters. 1 Publication
    Corresponds to variant rs6811423 [ dbSNP | Ensembl ].
    VAR_031246
    Natural varianti161 – 1611G → R in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068762
    Natural varianti166 – 1661G → R in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068763
    Natural varianti171 – 1711G → D in LGM; results in a significant reduction of AChR clusters. 1 Publication
    VAR_068764
    Natural varianti171 – 1711G → R in LGM. 1 Publication
    VAR_068765
    Natural varianti172 – 1721G → R in LGM. 1 Publication
    VAR_068766
    Natural varianti180 – 1801G → A in LGM; results in a significant reduction of AChR clusters. 2 Publications
    VAR_027544
    Natural varianti180 – 1801G → V in LGM. 1 Publication
    VAR_068767
    Natural varianti197 – 1971D → N.1 Publication
    Corresponds to variant rs16844422 [ dbSNP | Ensembl ].
    VAR_027545
    Natural varianti261 – 2611R → H.1 Publication
    Corresponds to variant rs16844460 [ dbSNP | Ensembl ].
    VAR_027546
    Natural varianti272 – 2721H → Q.1 Publication
    Corresponds to variant rs115614731 [ dbSNP | Ensembl ].
    VAR_068768
    Natural varianti296 – 2961Q → R.2 Publications
    Corresponds to variant rs6811423 [ dbSNP | Ensembl ].
    VAR_027547
    Natural varianti323 – 3231R → C.1 Publication
    Corresponds to variant rs150728781 [ dbSNP | Ensembl ].
    VAR_068769
    Natural varianti379 – 3791G → R.
    Corresponds to variant rs6831659 [ dbSNP | Ensembl ].
    VAR_050508
    Natural varianti382 – 3821E → K.1 Publication
    VAR_068770
    Natural varianti402 – 4021R → Q.1 Publication
    VAR_068771
    Natural varianti415 – 4151P → S.1 Publication
    Corresponds to variant rs16844464 [ dbSNP | Ensembl ].
    VAR_027548
    Natural varianti427 – 4271G → D.
    Corresponds to variant rs2020433 [ dbSNP | Ensembl ].
    VAR_027549
    Natural varianti440 – 4401A → T.1 Publication
    VAR_068772
    Natural varianti451 – 4511R → W.1 Publication
    Corresponds to variant rs16844470 [ dbSNP | Ensembl ].
    VAR_027550
    Natural varianti461 – 4611G → D.3 Publications
    Corresponds to variant rs9684786 [ dbSNP | Ensembl ].
    VAR_027551
    Natural varianti469 – 4691P → H in LGM. 1 Publication
    Corresponds to variant rs147185207 [ dbSNP | Ensembl ].
    VAR_068773
    Natural varianti503 – 5031P → T.1 Publication
    Corresponds to variant rs184556570 [ dbSNP | Ensembl ].
    VAR_068774

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 138138Missing in isoform 2. 1 PublicationVSP_020633Add
    BLAST
    Alternative sequencei139 – 17840VLARD…RCGYW → MMSSSWPGTSPRLSRGSGSC LTSGATGPCQADSSLKAGPG in isoform 2. 1 PublicationVSP_020634Add
    BLAST
    Alternative sequencei175 – 25581CGYWA…AGRPG → GWRLLPVLGRGGADQLPVRL HRPRHLPHQGPLWAAAGSTR PKSPGTLDCGGACGPGSPGN PTAGEAAEPPLTCGQAGQWR G in isoform 4. CuratedVSP_047252Add
    BLAST
    Alternative sequencei256 – 504249Missing in isoform 4. CuratedVSP_047253Add
    BLAST
    Alternative sequencei500 – 5045VNPPP → GAAASAPGPATAHSGSPGPV AVDSPGPERPRGESPTYVNI PVSPSSRKQLHYMGLELQEA SEGVRGAGASLYAQIDIMAT ETAHRVGVRHARAREEQLSE LEQRKAAPQ in isoform 3. CuratedVSP_020635

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB220918 mRNA. Translation: BAE96739.1.
    AK075037 mRNA. Translation: BAC11367.1. Sequence problems.
    AK091037 mRNA. Translation: BAC03572.1.
    AL590235 Genomic DNA. No translation available.
    BC043568 mRNA. Translation: AAH43568.1.
    BC062369 mRNA. Translation: AAH62369.1.
    BC131544 mRNA. Translation: AAI31545.1.
    BC141852 mRNA. Translation: AAI41853.1.
    CCDSiCCDS3370.2. [Q18PE1-1]
    CCDS54717.1. [Q18PE1-4]
    RefSeqiNP_001158145.1. NM_001164673.1. [Q18PE1-4]
    NP_001243825.1. NM_001256896.1.
    NP_775931.3. NM_173660.4. [Q18PE1-1]
    UniGeneiHs.122110.
    Hs.701584.

    Genome annotation databases

    EnsembliENST00000340083; ENSP00000344432; ENSG00000175920. [Q18PE1-1]
    ENST00000507039; ENSP00000423614; ENSG00000175920. [Q18PE1-4]
    GeneIDi285489.
    KEGGihsa:285489.
    UCSCiuc003ghd.3. human. [Q18PE1-1]
    uc003ghf.4. human. [Q18PE1-2]

    Polymorphism databases

    DMDMi115311705.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    The Leiden Muscular Dystrophy pages, Docking protein 7 (DOK7)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB220918 mRNA. Translation: BAE96739.1 .
    AK075037 mRNA. Translation: BAC11367.1 . Sequence problems.
    AK091037 mRNA. Translation: BAC03572.1 .
    AL590235 Genomic DNA. No translation available.
    BC043568 mRNA. Translation: AAH43568.1 .
    BC062369 mRNA. Translation: AAH62369.1 .
    BC131544 mRNA. Translation: AAI31545.1 .
    BC141852 mRNA. Translation: AAI41853.1 .
    CCDSi CCDS3370.2. [Q18PE1-1 ]
    CCDS54717.1. [Q18PE1-4 ]
    RefSeqi NP_001158145.1. NM_001164673.1. [Q18PE1-4 ]
    NP_001243825.1. NM_001256896.1.
    NP_775931.3. NM_173660.4. [Q18PE1-1 ]
    UniGenei Hs.122110.
    Hs.701584.

    3D structure databases

    ProteinModelPortali Q18PE1.
    SMRi Q18PE1. Positions 3-210.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130124. 1 interaction.
    IntActi Q18PE1. 1 interaction.
    STRINGi 9606.ENSP00000344432.

    PTM databases

    PhosphoSitei Q18PE1.

    Polymorphism databases

    DMDMi 115311705.

    Proteomic databases

    PaxDbi Q18PE1.
    PRIDEi Q18PE1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340083 ; ENSP00000344432 ; ENSG00000175920 . [Q18PE1-1 ]
    ENST00000507039 ; ENSP00000423614 ; ENSG00000175920 . [Q18PE1-4 ]
    GeneIDi 285489.
    KEGGi hsa:285489.
    UCSCi uc003ghd.3. human. [Q18PE1-1 ]
    uc003ghf.4. human. [Q18PE1-2 ]

    Organism-specific databases

    CTDi 285489.
    GeneCardsi GC04P003465.
    GeneReviewsi DOK7.
    HGNCi HGNC:26594. DOK7.
    HPAi HPA059449.
    MIMi 254300. phenotype.
    610285. gene.
    neXtProti NX_Q18PE1.
    Orphaneti 994. Fetal akinesia deformation sequence.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA162384035.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69734.
    HOGENOMi HOG000230953.
    HOVERGENi HBG080009.
    OMAi SLDICHG.
    OrthoDBi EOG75B84J.
    PhylomeDBi Q18PE1.
    TreeFami TF332288.

    Enzyme and pathway databases

    SignaLinki Q18PE1.

    Miscellaneous databases

    GenomeRNAii 285489.
    NextBioi 95544.
    PROi Q18PE1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q18PE1.
    Bgeei Q18PE1.
    CleanExi HS_DOK7.
    Genevestigatori Q18PE1.

    Family and domain databases

    Gene3Di 2.30.29.30. 2 hits.
    InterProi IPR002404. Insln_rcpt_S1.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view ]
    Pfami PF02174. IRS. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    [Graphical view ]
    PROSITEi PS51064. IRS_PTB. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ASP-461.
      Tissue: Brain and Ovary.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-296 AND ASP-461.
      Tissue: Blood and Mammary gland.
    5. "The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization."
      Bergamin E., Hallock P.T., Burden S.J., Hubbard S.R.
      Mol. Cell 39:100-109(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MUSK, FUNCTION, CHARACTERIZATION OF VARIANTS LGM VAL-33 AND GLN-158, MUTAGENESIS OF SER-30; VAL-32 AND ARG-174.
    6. Cited for: VARIANT LGM ALA-180.
    7. Cited for: VARIANTS LGM VAL-33; GLN-132 AND HIS-469.
    8. Cited for: VARIANTS LGM MET-116; LEU-146; ARG-157; ARG-171; ARG-172 AND VAL-180, VARIANT LEU-45.
    9. "The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome."
      Cossins J., Liu W.W., Belaya K., Maxwell S., Oldridge M., Lester T., Robb S., Beeson D.
      Hum. Mol. Genet. 21:3765-3775(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LGM LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180, VARIANTS LEU-45; VAL-99; ASN-197; HIS-261; GLN-272; ARG-296; CYS-323; LYS-382; GLN-402; SER-415; THR-440; TRP-451; ASP-461 AND THR-503, CHARACTERIZATION OF VARIANTS LGM LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180, CHARACTERIZATION OF VARIANT LEU-45.

    Entry informationi

    Entry nameiDOK7_HUMAN
    AccessioniPrimary (citable) accession number: Q18PE1
    Secondary accession number(s): A2A499
    , A2RRD4, E9PB56, Q6P6A6, Q86XG5, Q8N2J3, Q8NBC1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2006
    Last sequence update: July 25, 2006
    Last modified: October 1, 2014
    This is version 80 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3