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Q18PE1

- DOK7_HUMAN

UniProt

Q18PE1 - DOK7_HUMAN

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Protein

Protein Dok-7

Gene

DOK7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

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.
GeneTreeiENSGT00390000015386.
HOGENOMiHOG000230953.
HOVERGENiHBG080009.
InParanoidiQ18PE1.
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

        10         20         30         40         50
MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG
60 70 80 90 100
LRERSSLTLE DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW
110 120 130 140 150
DARIRYALGE VHRFHVTVAP GTKLESGPAT LHLCNDVLVL ARDIPPAVTG
160 170 180 190 200
QWKLSDLRRY GAVPSGFIFE GGTRCGYWAG VFFLSSAEGE QISFLFDCIV
210 220 230 240 250
RGISPTKGPF GLRPVLPDPS PPGPSTVEER VAQEALETLQ LEKRLSLLSH
260 270 280 290 300
AGRPGSGGDD RSLSSSSSEA SHLDVSASSR LTAWPEQSSS SASTSQEGPR
310 320 330 340 350
PAAAQAAGEA MVGASRPPPK PLRPRQLQEV GRQSSSDSGI ATGSHSSYSS
360 370 380 390 400
SLSSYAGSSL DVWRATDELG SLLSLPAAGA PEPSLCTCLP GTVEYQVPTS
410 420 430 440 450
LRAHYDTPRS LCLAPRDHSP PSQGSPGNSA ARDSGGQTSA GCPSGWLGTR
460 470 480 490 500
RRGLVMEAPQ GSEATLPGPA PGEPWEAGGP HAGPPPAFFS ACPVCGGLKV

NPPP
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.
GeneTreei ENSGT00390000015386.
HOGENOMi HOG000230953.
HOVERGENi HBG080009.
InParanoidi Q18PE1.
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

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

« Hide 'large scale' publications
  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 29, 2014
This is version 81 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