DOK7

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

lipid binding Source: UniProtKB-KW
protein kinase binding
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.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 CMS10 VAL-33 AND GLN-158, MUTAGENESIS OF SER-30; VAL-32 AND ARG-174.

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Ligand	Lipid-binding

Ligand

Lipid-binding

Enzyme and pathway databases

PathwayCommonsⁱ	Q18PE1
SignaLinkⁱ	Q18PE1
SIGNORⁱ	Q18PE1

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Protein Dok-7 Alternative name(s): Downstream of tyrosine kinase 7
Gene namesⁱ	Name:DOK7 Synonyms:C4orf25
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:26594, DOK7
MIMⁱ	610285, gene
neXtProtⁱ	NX_Q18PE1
VEuPathDBⁱ	HostDB:ENSG00000175920.15

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Myasthenic syndrome, congenital, 10 (CMS10)5 Publications

The disease is caused by variants 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 key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_068750	3	E → K in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs763233743Ensembl.	1
Natural variantⁱVAR_068751	31	P → T in CMS10; results in a significant reduction of AChR clusters. 1 Publication	1
Natural variantⁱVAR_068752	33	A → V in CMS10; results in reduced stimulation of MUSK autophosphorylation. 2 Publications	1
Natural variantⁱVAR_068754	77	T → M in CMS10; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs940346413Ensembl.	1
Natural variantⁱVAR_068756	109	G → C in CMS10; results in a significant reduction of AChR clusters. 1 Publication	1
Natural variantⁱVAR_068757	116	V → M in CMS10. 1 PublicationCorresponds to variant dbSNP:rs1429428597Ensembl.	1
Natural variantⁱVAR_068758	132	H → Q in CMS10. 1 Publication	1
Natural variantⁱVAR_068759	139	V → L in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs571769859Ensembl.	1
Natural variantⁱVAR_068760	146	P → L in CMS10. 1 PublicationCorresponds to variant dbSNP:rs770987150EnsemblClinVar.	1
Natural variantⁱVAR_068761	157	L → R in CMS10. 1 Publication	1
Natural variantⁱVAR_031246	158	R → 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:rs754633490Ensembl.	1
Natural variantⁱVAR_068762	161	G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs758131044EnsemblClinVar.	1
Natural variantⁱVAR_068763	166	G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs781227659Ensembl.	1
Natural variantⁱVAR_068764	171	G → D in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs1286619522Ensembl.	1
Natural variantⁱVAR_068765	171	G → R in CMS10. 1 Publication	1
Natural variantⁱVAR_068766	172	G → R in CMS10. 1 PublicationCorresponds to variant dbSNP:rs768892432EnsemblClinVar.	1
Natural variantⁱVAR_027544	180	G → A in CMS10; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs118203994EnsemblClinVar.	1
Natural variantⁱVAR_068767	180	G → V in CMS10. 1 Publication	1
Natural variantⁱVAR_068773	469	P → H in CMS10. 1 PublicationCorresponds to variant dbSNP:rs147185207EnsemblClinVar.	1

Fetal akinesia deformation sequence 3 (FADS3)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive.

Related information in OMIM

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	30	S → W: Reduced stimulation of MUSK autophosphorylation. 1 Publication	1
Mutagenesisⁱ	32	V → A: Reduced stimulation of MUSK autophosphorylation. 1 Publication	1
Mutagenesisⁱ	174	R → A: Reduced stimulation of MUSK autophosphorylation; when associated with Q-158. 1 Publication	1

Keywords - Diseaseⁱ

Congenital myasthenic syndrome, Disease variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	285489
GeneReviewsⁱ	DOK7
MalaCards human disease database More...MalaCardsⁱ	DOK7
MIMⁱ	254300, phenotype 618389, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000175920
Orphanetⁱ	994, Fetal akinesia deformation sequence 98913, Postsynaptic congenital myasthenic syndromes
PharmGKBⁱ	PA162384035

Miscellaneous databases

Pharosⁱ	Q18PE1, Tbio

Pharosⁱ

Q18PE1, Tbio

Genetic variation databases

BioMutaⁱ	DOK7
DMDMⁱ	115311705

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000250371	1 – 504	Protein Dok-7Add BLAST		504

Proteomic databases

jPOSTⁱ	Q18PE1
MassIVEⁱ	Q18PE1
PaxDbⁱ	Q18PE1
PeptideAtlas More...PeptideAtlasⁱ	Q18PE1
PRIDEⁱ	Q18PE1
ProteomicsDBⁱ	19148 61176 [Q18PE1-1] 61177 [Q18PE1-2] 61178 [Q18PE1-3]

PTM databases

iPTMnetⁱ	Q18PE1
PhosphoSitePlusⁱ	Q18PE1

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

Bgeeⁱ	ENSG00000175920, Expressed in heart left ventricle and 143 other tissues
ExpressionAtlasⁱ	Q18PE1, baseline and differential
Genevisibleⁱ	Q18PE1, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000175920, Tissue enhanced (heart muscle, skeletal muscle)

HPAⁱ

ENSG00000175920, Tissue enhanced (heart muscle, skeletal muscle)

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

Binary interactionsⁱ

Q18PE1

With	#Exp.	IntAct
EFEMP2 [O95967]	3	EBI-3046647,EBI-743414

GO - Molecular functionⁱ

protein kinase binding
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.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 CMS10 VAL-33 AND GLN-158, MUTAGENESIS OF SER-30; VAL-32 AND ARG-174.

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	130124, 8 interactors
IntActⁱ	Q18PE1, 5 interactors
STRINGⁱ	9606.ENSP00000344432

Miscellaneous databases

RNActⁱ	Q18PE1, protein

RNActⁱ

Q18PE1, protein

Structureⁱ

3D structure databases

SMRⁱ	Q18PE1
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	4 – 109	PHPROSITE-ProRule annotationAdd BLAST		106
Domainⁱ	105 – 210	IRS-type PTBPROSITE-ProRule annotationAdd BLAST		106

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	262 – 359	Ser-richAdd BLAST		98

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

eggNOGⁱ	ENOG502QQBI, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000015386
HOGENOMⁱ	CLU_095366_0_0_1
InParanoidⁱ	Q18PE1
OMAⁱ	TIWPEQS
Database of Orthologous Groups More...OrthoDBⁱ	317220at2759
PhylomeDBⁱ	Q18PE1
TreeFamⁱ	TF332288

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd14677, PH_DOK7, 1 hit cd13165, PTB_DOK7, 1 hit
Gene3Dⁱ	2.30.29.30, 2 hits
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
PANTHERⁱ	PTHR21636, PTHR21636, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02174, IRS, 1 hit
SMARTⁱ	View protein in SMART SM00233, PH, 1 hit
PROSITEⁱ	View protein in PROSITE PS51064, IRS_PTB, 1 hit PS50003, PH_DOMAIN, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

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

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

This isoform has been chosen as the 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

Checksum:ⁱ54750E0B0BC33317

GO

Isoform 2 (identifier: Q18PE1-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MMSSSWPGTS PRLSRGSGSC LTSGATGPCQ ADSSLKAGPG AGVFFLSSAE 
        60         70         80         90        100
GEQISFLFDC IVRGISPTKG PFGLRPVLPD PSPPGPSTVE ERVAQEALET 
       110        120        130        140        150
LQLEKRLSLL SHAGRPGSGG DDRSLSSSSS EASHLDVSAS SRLTAWPEQS 
       160        170        180        190        200
SSSASTSQEG PRPAAAQAAG EAMVGASRPP PKPLRPRQLQ EVGRQSSSDS 
       210        220        230        240        250
GIATGSHSSY SSSLSSYAGS SLDVWRATDE LGSLLSLPAA GAPEPSLCTC 
       260        270        280        290        300
LPGTVEYQVP TSLRAHYDTP RSLCLAPRDH SPPSQGSPGN SAARDSGGQT 
       310        320        330        340        350
SAGCPSGWLG TRRRGLVMEA PQGSEATLPG PAPGEPWEAG GPHAGPPPAF 
       360 
FSACPVCGGL KVNPPP

Show »

Length:366

Mass (Da):37,161

Checksum:ⁱ8CFC71602C970AC3

GO

Isoform 4 (identifier: Q18PE1-4) [UniParc]FASTA Add to basket

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

« 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 GGTRGWRLLP VLGRGGADQL PVRLHRPRHL 
       210        220        230        240        250
PHQGPLWAAA GSTRPKSPGT LDCGGACGPG SPGNPTAGEA AEPPLTCGQA 

GQWRG

Show »

Length:255

Mass (Da):27,514

Checksum:ⁱ098963FABA4A7185

GO

Isoform 3 (identifier: Q18PE1-3) [UniParc]FASTA Add to basket

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

« 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 ACPVCGGLKG 
       510        520        530        540        550
AAASAPGPAT AHSGSPGPVA VDSPGPERPR GESPTYVNIP VSPSSRKQLH 
       560        570        580        590        600
YMGLELQEAS EGVRGAGASL YAQIDIMATE TAHRVGVRHA RAREEQLSEL 

EQRKAAPQ

Show »

Length:608

Mass (Da):63,938

Checksum:ⁱ384FFACAA0AD8359

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A1W2PRA3	A0A1W2PRA3_HUMAN	Protein Dok-7 Protein Dok-7	DOK7	194	Annotation score:
A0A2R8Y701	A0A2R8Y701_HUMAN	Protein Dok-7 Protein Dok-7	DOK7	464	Annotation score:

Sequence cautionⁱ

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

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_068750	3	E → K in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs763233743Ensembl.	1
Natural variantⁱVAR_068751	31	P → T in CMS10; results in a significant reduction of AChR clusters. 1 Publication	1
Natural variantⁱVAR_068752	33	A → V in CMS10; results in reduced stimulation of MUSK autophosphorylation. 2 Publications	1
Natural variantⁱVAR_068753	45	S → L Does not affect AChR clusters number or complexity. 2 PublicationsCorresponds to variant dbSNP:rs62272670EnsemblClinVar.	1
Natural variantⁱVAR_068754	77	T → M in CMS10; results in a decrease of branched, c-shaped and perforated AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs940346413Ensembl.	1
Natural variantⁱVAR_068755	99	A → V1 PublicationCorresponds to variant dbSNP:rs138010842EnsemblClinVar.	1
Natural variantⁱVAR_068756	109	G → C in CMS10; results in a significant reduction of AChR clusters. 1 Publication	1
Natural variantⁱVAR_068757	116	V → M in CMS10. 1 PublicationCorresponds to variant dbSNP:rs1429428597Ensembl.	1
Natural variantⁱVAR_068758	132	H → Q in CMS10. 1 Publication	1
Natural variantⁱVAR_068759	139	V → L in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs571769859Ensembl.	1
Natural variantⁱVAR_068760	146	P → L in CMS10. 1 PublicationCorresponds to variant dbSNP:rs770987150EnsemblClinVar.	1
Natural variantⁱVAR_068761	157	L → R in CMS10. 1 Publication	1
Natural variantⁱVAR_031246	158	R → 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:rs754633490Ensembl.	1
Natural variantⁱVAR_068762	161	G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs758131044EnsemblClinVar.	1
Natural variantⁱVAR_068763	166	G → R in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs781227659Ensembl.	1
Natural variantⁱVAR_068764	171	G → D in CMS10; results in a significant reduction of AChR clusters. 1 PublicationCorresponds to variant dbSNP:rs1286619522Ensembl.	1
Natural variantⁱVAR_068765	171	G → R in CMS10. 1 Publication	1
Natural variantⁱVAR_068766	172	G → R in CMS10. 1 PublicationCorresponds to variant dbSNP:rs768892432EnsemblClinVar.	1
Natural variantⁱVAR_027544	180	G → A in CMS10; results in a significant reduction of AChR clusters. 2 PublicationsCorresponds to variant dbSNP:rs118203994EnsemblClinVar.	1
Natural variantⁱVAR_068767	180	G → V in CMS10. 1 Publication	1
Natural variantⁱVAR_027545	197	D → N1 PublicationCorresponds to variant dbSNP:rs16844422EnsemblClinVar.	1
Natural variantⁱVAR_027546	261	R → H1 PublicationCorresponds to variant dbSNP:rs16844460EnsemblClinVar.	1
Natural variantⁱVAR_068768	272	H → Q1 PublicationCorresponds to variant dbSNP:rs115614731Ensembl.	1
Natural variantⁱVAR_027547	296	Q → R2 PublicationsCorresponds to variant dbSNP:rs6811423EnsemblClinVar.	1
Natural variantⁱVAR_068769	323	R → C1 PublicationCorresponds to variant dbSNP:rs150728781EnsemblClinVar.	1
Natural variantⁱVAR_050508	379	G → R. Corresponds to variant dbSNP:rs6831659Ensembl.	1
Natural variantⁱVAR_068770	382	E → K1 PublicationCorresponds to variant dbSNP:rs560463670EnsemblClinVar.	1
Natural variantⁱVAR_068771	402	R → Q1 PublicationCorresponds to variant dbSNP:rs370039804EnsemblClinVar.	1
Natural variantⁱVAR_027548	415	P → S1 PublicationCorresponds to variant dbSNP:rs16844464EnsemblClinVar.	1
Natural variantⁱVAR_027549	427	G → D. Corresponds to variant dbSNP:rs2020433Ensembl.	1
Natural variantⁱVAR_068772	440	A → T1 PublicationCorresponds to variant dbSNP:rs753026831Ensembl.	1
Natural variantⁱVAR_027550	451	R → W1 PublicationCorresponds to variant dbSNP:rs16844470EnsemblClinVar.	1
Natural variantⁱVAR_027551	461	G → D3 PublicationsCorresponds to variant dbSNP:rs9684786EnsemblClinVar.	1
Natural variantⁱVAR_068773	469	P → H in CMS10. 1 PublicationCorresponds to variant dbSNP:rs147185207EnsemblClinVar.	1
Natural variantⁱVAR_068774	503	P → T1 PublicationCorresponds to variant dbSNP:rs184556570EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_020633	1 – 138	Missing in isoform 2. 1 PublicationAdd BLAST	138
Alternative sequenceⁱVSP_020634	139 – 178	VLARD…RCGYW → MMSSSWPGTSPRLSRGSGSC LTSGATGPCQADSSLKAGPG in isoform 2. 1 PublicationAdd BLAST	40
Alternative sequenceⁱVSP_047252	175 – 255	CGYWA…AGRPG → GWRLLPVLGRGGADQLPVRL HRPRHLPHQGPLWAAAGSTR PKSPGTLDCGGACGPGSPGN PTAGEAAEPPLTCGQAGQWR G in isoform 4. CuratedAdd BLAST	81
Alternative sequenceⁱVSP_047253	256 – 504	Missing in isoform 4. CuratedAdd BLAST	249
Alternative sequenceⁱVSP_020635	500 – 504	VNPPP → GAAASAPGPATAHSGSPGPV AVDSPGPERPRGESPTYVNI PVSPSSRKQLHYMGLELQEA SEGVRGAGASLYAQIDIMAT ETAHRVGVRHARAREEQLSE LEQRKAAPQ in isoform 3. Curated	5

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
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

Ensemblⁱ	ENST00000340083; ENSP00000344432; ENSG00000175920 [Q18PE1-1] ENST00000507039; ENSP00000423614; ENSG00000175920 [Q18PE1-4]
GeneIDⁱ	285489
KEGGⁱ	hsa:285489
UCSC genome browser More...UCSCⁱ	uc003ghd.4, human [Q18PE1-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q18PE1	Protein Dok-7		HUMAN		194	UniRef100_Q18PE1

Protein	Similar proteins		Species	Score	Length	Source
Q18PE1	Protein Dok-7		HUMAN		194	UniRef90_Q18PE1
Uncharacterized protein		MACFA		573
Uncharacterized protein		PAPAN		538
Uncharacterized protein		CHLSB		504
Uncharacterized protein		MACMU		504
+23
Q18PE1-2	protein Dok-7 isoform X2		SAPAP		363	UniRef90_Q18PE1-2
+10
Q18PE1-4	PH domain-containing protein		GORGO		256	UniRef90_Q18PE1-4
DOK7 isoform 1		PONAB		255
DOK7 isoform 1		PANTR		255
protein Dok-7 isoform X3		SAPAP		254
Uncharacterized protein		MANLE		221
+18
Q18PE1-3	DOK7 isoform 3		PANTR		192	UniRef90_Q18PE1-3
+6

Protein	Similar proteins		Species	Score	Length	Source
Q18PE1	Protein Dok-7		HUMAN		194	UniRef50_Q18PE1
Uncharacterized protein		MACFA		573
Uncharacterized protein		PAPAN		538
Uncharacterized protein		MACMU		504
Uncharacterized protein		AOTNA		504
+26
Q18PE1-2	protein Dok-7 isoform X2		SAPAP		363	UniRef50_Q18PE1-2
protein Dok-7 isoform X2		DELLE		356
protein Dok-7 isoform X2		LIPVE		356
protein Dok-7 isoform X2		NEOAA		356
Isoform 2 of Protein Dok-7		MOUSE		360
+35
Q18PE1-4	PH domain-containing protein		GORGO		256	UniRef50_Q18PE1-4
DOK7 isoform 1		PONAB		255
DOK7 isoform 1		PANTR		255
protein Dok-7 isoform X3		SAPAP		254
Uncharacterized protein		MANLE		221
+20
Q18PE1-3	DOK7 isoform 3		PANTR		192	UniRef50_Q18PE1-3
+8

Cross-referencesⁱ

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
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_001288000.1, NM_001301071.1 [Q18PE1-3] NP_775931.3, NM_173660.4 [Q18PE1-1]

3D structure databases

SMRⁱ	Q18PE1
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	130124, 8 interactors
IntActⁱ	Q18PE1, 5 interactors
STRINGⁱ	9606.ENSP00000344432

PTM databases

iPTMnetⁱ	Q18PE1
PhosphoSitePlusⁱ	Q18PE1

Genetic variation databases

BioMutaⁱ	DOK7
DMDMⁱ	115311705

Proteomic databases

jPOSTⁱ	Q18PE1
MassIVEⁱ	Q18PE1
PaxDbⁱ	Q18PE1
PeptideAtlasⁱ	Q18PE1
PRIDEⁱ	Q18PE1
ProteomicsDBⁱ	19148 61176 [Q18PE1-1] 61177 [Q18PE1-2] 61178 [Q18PE1-3]

Protocols and materials databases

Antibodypediaⁱ	55035, 418 antibodies

Antibodypediaⁱ

55035, 418 antibodies

Genome annotation databases

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

Organism-specific databases

CTDⁱ	285489
DisGeNETⁱ	285489
GeneCardsⁱ	DOK7
GeneReviewsⁱ	DOK7
HGNCⁱ	HGNC:26594, DOK7
HPAⁱ	ENSG00000175920, Tissue enhanced (heart muscle, skeletal muscle)
MalaCardsⁱ	DOK7
MIMⁱ	254300, phenotype 610285, gene 618389, phenotype
neXtProtⁱ	NX_Q18PE1
OpenTargetsⁱ	ENSG00000175920
Orphanetⁱ	994, Fetal akinesia deformation sequence 98913, Postsynaptic congenital myasthenic syndromes
PharmGKBⁱ	PA162384035
VEuPathDBⁱ	HostDB:ENSG00000175920.15
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG502QQBI, Eukaryota
GeneTreeⁱ	ENSGT00390000015386
HOGENOMⁱ	CLU_095366_0_0_1
InParanoidⁱ	Q18PE1
OMAⁱ	TIWPEQS
OrthoDBⁱ	317220at2759
PhylomeDBⁱ	Q18PE1
TreeFamⁱ	TF332288

Enzyme and pathway databases

PathwayCommonsⁱ	Q18PE1
SignaLinkⁱ	Q18PE1
SIGNORⁱ	Q18PE1

Miscellaneous databases

BioGRID-ORCSⁱ	285489, 3 hits in 982 CRISPR screens
ChiTaRSⁱ	DOK7, human
GenomeRNAiⁱ	285489
Pharosⁱ	Q18PE1, Tbio
Protein Ontology More...PROⁱ	PR:Q18PE1
RNActⁱ	Q18PE1, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000175920, Expressed in heart left ventricle and 143 other tissues
ExpressionAtlasⁱ	Q18PE1, baseline and differential
Genevisibleⁱ	Q18PE1, HS

Family and domain databases

CDDⁱ	cd14677, PH_DOK7, 1 hit cd13165, PTB_DOK7, 1 hit
Gene3Dⁱ	2.30.29.30, 2 hits
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
PANTHERⁱ	PTHR21636, PTHR21636, 1 hit
Pfamⁱ	View protein in Pfam PF02174, IRS, 1 hit
SMARTⁱ	View protein in SMART SM00233, PH, 1 hit
PROSITEⁱ	View protein in PROSITE PS51064, IRS_PTB, 1 hit PS50003, PH_DOMAIN, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	DOK7_HUMAN
Accessionⁱ	Q18PE1Primary (citable) accession number: Q18PE1 Secondary accession number(s): A2A499 Q8NBC1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	September 19, 2006
	Last sequence update:	July 25, 2006
	Last modified:	April 7, 2021
	This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Reference proteome

Documents

Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

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UniRef

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Supporting data

UniProtKB - Q18PE1 (DOK7_HUMAN)

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Protein Dok-7

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<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

<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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

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Plasma Membrane

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Keywords - Cellular componenti

<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

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Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Q18PE1

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<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

<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

Compositional bias

Phylogenomic databases

Family and domain databases

<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

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Alternative sequence

Sequence databases

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Keywords - Coding sequence diversityi

<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

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Sequence databases

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Protein-protein interaction databases

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Genetic variation databases

Proteomic databases

Protocols and materials databases

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Enzyme and pathway databases

Miscellaneous databases

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<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ