Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 116 (18 Sep 2019)
Sequence version 1 (25 Jul 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Protein Dok-7

Gene

DOK7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lipid binding Source: UniProtKB-KW
  • protein kinase binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandLipid-binding

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q18PE1

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q18PE1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein Dok-7
Alternative name(s):
Downstream of tyrosine kinase 7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DOK7
Synonyms:C4orf25
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26594 DOK7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610285 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q18PE1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myasthenic syndrome, congenital, 10 (CMS10)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0687503E → K in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs763233743Ensembl.1
Natural variantiVAR_06875131P → T in CMS10; results in a significant reduction of AChR clusters. 1 Publication1
Natural variantiVAR_06875233A → V in CMS10; results in reduced stimulation of MUSK autophosphorylation. 2 Publications1
Natural variantiVAR_06875477T → M in CMS10; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs940346413Ensembl.1
Natural variantiVAR_068756109G → C in CMS10; results in a significant reduction of AChR clusters. 1 Publication1
Natural variantiVAR_068757116V → M in CMS10. 1 PublicationCorresponds to variant dbSNP:rs1429428597Ensembl.1
Natural variantiVAR_068758132H → Q in CMS10. 1 Publication1
Natural variantiVAR_068759139V → L in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs571769859Ensembl.1
Natural variantiVAR_068760146P → L in CMS10. 1 PublicationCorresponds to variant dbSNP:rs770987150Ensembl.1
Natural variantiVAR_068761157L → R in CMS10. 1 Publication1
Natural variantiVAR_031246158R → Q in CMS10; reduced stimulation of MUSK autophosphorylation when associated with A-174; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs6811423EnsemblClinVar.1
Natural variantiVAR_068762161G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs758131044Ensembl.1
Natural variantiVAR_068763166G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs781227659Ensembl.1
Natural variantiVAR_068764171G → D in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs1286619522Ensembl.1
Natural variantiVAR_068765171G → R in CMS10. 1 Publication1
Natural variantiVAR_068766172G → R in CMS10. 1 PublicationCorresponds to variant dbSNP:rs768892432Ensembl.1
Natural variantiVAR_027544180G → A in CMS10; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs118203994EnsemblClinVar.1
Natural variantiVAR_068767180G → V in CMS10. 1 Publication1
Natural variantiVAR_068773469P → H in CMS10. 1 PublicationCorresponds to variant dbSNP:rs147185207EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi30S → W: Reduced stimulation of MUSK autophosphorylation. 1 Publication1
Mutagenesisi32V → A: Reduced stimulation of MUSK autophosphorylation. 1 Publication1
Mutagenesisi174R → A: Reduced stimulation of MUSK autophosphorylation; when associated with Q-158. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
285489

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DOK7

MalaCards human disease database

More...
MalaCardsi
DOK7
MIMi254300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000175920

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
994 Fetal akinesia deformation sequence
98913 Postsynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162384035

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DOK7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
115311705

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002503711 – 504Protein Dok-7Add BLAST504

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q18PE1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q18PE1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q18PE1

PeptideAtlas

More...
PeptideAtlasi
Q18PE1

PRoteomics IDEntifications database

More...
PRIDEi
Q18PE1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
19148
61176 [Q18PE1-1]
61177 [Q18PE1-2]
61178 [Q18PE1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q18PE1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q18PE1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175920 Expressed in 123 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q18PE1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q18PE1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059449
HPA062780

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
130124, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q18PE1, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000344432

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q18PE1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini4 – 109PHPROSITE-ProRule annotationAdd BLAST106
Domaini105 – 210IRS-type PTBPROSITE-ProRule annotationAdd BLAST106

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi262 – 359Ser-richAdd BLAST98

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHI2 Eukaryota
ENOG4111MP1 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015386

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230953

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q18PE1

Identification of Orthologs from Complete Genome Data

More...
OMAi
EYQVPSS

Database of Orthologous Groups

More...
OrthoDBi
317220at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q18PE1

TreeFam database of animal gene trees

More...
TreeFami
TF332288

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14677 PH_DOK7, 1 hit
cd13165 PTB_DOK7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037746 Dok-7
IPR037747 Dok-7_PH
IPR037748 Dok-7_PTB
IPR002404 IRS_PTB
IPR011993 PH-like_dom_sf
IPR001849 PH_domain

The PANTHER Classification System

More...
PANTHERi
PTHR21636 PTHR21636, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02174 IRS, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51064 IRS_PTB, 1 hit
PS50003 PH_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q18PE1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRA3A0A1W2PRA3_HUMAN
Protein Dok-7
DOK7
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y701A0A2R8Y701_HUMAN
Protein Dok-7
DOK7
464Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0687503E → K in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs763233743Ensembl.1
Natural variantiVAR_06875131P → T in CMS10; results in a significant reduction of AChR clusters. 1 Publication1
Natural variantiVAR_06875233A → V in CMS10; results in reduced stimulation of MUSK autophosphorylation. 2 Publications1
Natural variantiVAR_06875345S → L Does not affect AChR clusters number or complexity. 2 PublicationsCorresponds to variant dbSNP:rs62272670EnsemblClinVar.1
Natural variantiVAR_06875477T → M in CMS10; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs940346413Ensembl.1
Natural variantiVAR_06875599A → V1 PublicationCorresponds to variant dbSNP:rs138010842EnsemblClinVar.1
Natural variantiVAR_068756109G → C in CMS10; results in a significant reduction of AChR clusters. 1 Publication1
Natural variantiVAR_068757116V → M in CMS10. 1 PublicationCorresponds to variant dbSNP:rs1429428597Ensembl.1
Natural variantiVAR_068758132H → Q in CMS10. 1 Publication1
Natural variantiVAR_068759139V → L in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs571769859Ensembl.1
Natural variantiVAR_068760146P → L in CMS10. 1 PublicationCorresponds to variant dbSNP:rs770987150Ensembl.1
Natural variantiVAR_068761157L → R in CMS10. 1 Publication1
Natural variantiVAR_031246158R → Q in CMS10; reduced stimulation of MUSK autophosphorylation when associated with A-174; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs6811423EnsemblClinVar.1
Natural variantiVAR_068762161G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs758131044Ensembl.1
Natural variantiVAR_068763166G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs781227659Ensembl.1
Natural variantiVAR_068764171G → D in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs1286619522Ensembl.1
Natural variantiVAR_068765171G → R in CMS10. 1 Publication1
Natural variantiVAR_068766172G → R in CMS10. 1 PublicationCorresponds to variant dbSNP:rs768892432Ensembl.1
Natural variantiVAR_027544180G → A in CMS10; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs118203994EnsemblClinVar.1
Natural variantiVAR_068767180G → V in CMS10. 1 Publication1
Natural variantiVAR_027545197D → N1 PublicationCorresponds to variant dbSNP:rs16844422EnsemblClinVar.1
Natural variantiVAR_027546261R → H1 PublicationCorresponds to variant dbSNP:rs16844460EnsemblClinVar.1
Natural variantiVAR_068768272H → Q1 PublicationCorresponds to variant dbSNP:rs115614731Ensembl.1
Natural variantiVAR_027547296Q → R2 PublicationsCorresponds to variant dbSNP:rs6811423EnsemblClinVar.1
Natural variantiVAR_068769323R → C1 PublicationCorresponds to variant dbSNP:rs150728781EnsemblClinVar.1
Natural variantiVAR_050508379G → R. Corresponds to variant dbSNP:rs6831659Ensembl.1
Natural variantiVAR_068770382E → K1 PublicationCorresponds to variant dbSNP:rs560463670EnsemblClinVar.1
Natural variantiVAR_068771402R → Q1 PublicationCorresponds to variant dbSNP:rs370039804Ensembl.1
Natural variantiVAR_027548415P → S1 PublicationCorresponds to variant dbSNP:rs16844464EnsemblClinVar.1
Natural variantiVAR_027549427G → D. Corresponds to variant dbSNP:rs2020433Ensembl.1
Natural variantiVAR_068772440A → T1 PublicationCorresponds to variant dbSNP:rs753026831Ensembl.1
Natural variantiVAR_027550451R → W1 PublicationCorresponds to variant dbSNP:rs16844470EnsemblClinVar.1
Natural variantiVAR_027551461G → D3 PublicationsCorresponds to variant dbSNP:rs9684786EnsemblClinVar.1
Natural variantiVAR_068773469P → H in CMS10. 1 PublicationCorresponds to variant dbSNP:rs147185207EnsemblClinVar.1
Natural variantiVAR_068774503P → T1 PublicationCorresponds to variant dbSNP:rs184556570EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0206331 – 138Missing in isoform 2. 1 PublicationAdd BLAST138
Alternative sequenceiVSP_020634139 – 178VLARD…RCGYW → MMSSSWPGTSPRLSRGSGSC LTSGATGPCQADSSLKAGPG in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_047252175 – 255CGYWA…AGRPG → GWRLLPVLGRGGADQLPVRL HRPRHLPHQGPLWAAAGSTR PKSPGTLDCGGACGPGSPGN PTAGEAAEPPLTCGQAGQWR G in isoform 4. CuratedAdd BLAST81
Alternative sequenceiVSP_047253256 – 504Missing in isoform 4. CuratedAdd BLAST249
Alternative sequenceiVSP_020635500 – 504VNPPP → GAAASAPGPATAHSGSPGPV AVDSPGPERPRGESPTYVNI PVSPSSRKQLHYMGLELQEA SEGVRGAGASLYAQIDIMAT ETAHRVGVRHARAREEQLSE LEQRKAAPQ in isoform 3. Curated5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3370.2 [Q18PE1-1]
CCDS54717.1 [Q18PE1-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001158145.1, NM_001164673.1 [Q18PE1-4]
NP_001243825.1, NM_001256896.1
NP_001288000.1, NM_001301071.1 [Q18PE1-3]
NP_775931.3, NM_173660.4 [Q18PE1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000340083; ENSP00000344432; ENSG00000175920 [Q18PE1-1]
ENST00000507039; ENSP00000423614; ENSG00000175920 [Q18PE1-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
285489

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:285489

UCSC genome browser

More...
UCSCi
uc003ghd.4 human [Q18PE1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

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

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001288000.1, NM_001301071.1 [Q18PE1-3]
NP_775931.3, NM_173660.4 [Q18PE1-1]

3D structure databases

SMRiQ18PE1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi130124, 7 interactors
IntActiQ18PE1, 5 interactors
STRINGi9606.ENSP00000344432

PTM databases

iPTMnetiQ18PE1
PhosphoSitePlusiQ18PE1

Polymorphism and mutation databases

BioMutaiDOK7
DMDMi115311705

Proteomic databases

jPOSTiQ18PE1
MassIVEiQ18PE1
PaxDbiQ18PE1
PeptideAtlasiQ18PE1
PRIDEiQ18PE1
ProteomicsDBi19148
61176 [Q18PE1-1]
61177 [Q18PE1-2]
61178 [Q18PE1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
285489
DisGeNETi285489

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DOK7
GeneReviewsiDOK7
HGNCiHGNC:26594 DOK7
HPAiHPA059449
HPA062780
MalaCardsiDOK7
MIMi254300 phenotype
610285 gene
neXtProtiNX_Q18PE1
OpenTargetsiENSG00000175920
Orphaneti994 Fetal akinesia deformation sequence
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA162384035

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHI2 Eukaryota
ENOG4111MP1 LUCA
GeneTreeiENSGT00390000015386
HOGENOMiHOG000230953
InParanoidiQ18PE1
OMAiEYQVPSS
OrthoDBi317220at2759
PhylomeDBiQ18PE1
TreeFamiTF332288

Enzyme and pathway databases

SignaLinkiQ18PE1
SIGNORiQ18PE1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
DOK7 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
285489

Pharos

More...
Pharosi
Q18PE1

Protein Ontology

More...
PROi
PR:Q18PE1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175920 Expressed in 123 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiQ18PE1 baseline and differential
GenevisibleiQ18PE1 HS

Family and domain databases

CDDicd14677 PH_DOK7, 1 hit
cd13165 PTB_DOK7, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR037746 Dok-7
IPR037747 Dok-7_PH
IPR037748 Dok-7_PTB
IPR002404 IRS_PTB
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR21636 PTHR21636, 1 hit
PfamiView protein in Pfam
PF02174 IRS, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
PROSITEiView protein in PROSITE
PS51064 IRS_PTB, 1 hit
PS50003 PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDOK7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q18PE1
Secondary accession number(s): A2A499
, A2RRD4, E9PB56, Q6P6A6, Q86XG5, Q8N2J3, Q8NBC1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: July 25, 2006
Last modified: September 18, 2019
This is version 116 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again