Q18PE1 (DOK7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein Dok-7

Alternative name(s):
Downstream of tyrosine kinase 7

Gene names

Name:	DOK7
Synonyms:	C4orf25

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	504 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.5
Subunit structure	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. Ref.5
Subcellular location	Cell membrane; Peripheral membrane protein By similarity. Cell junction › synapse By similarity. Note: Accumulates at neuromuscular junctions By similarity.
Tissue specificity	Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level). Ref.1
Domain	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.
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9
Sequence similarities	Contains 1 IRS-type PTB domain. Contains 1 PH domain.
Sequence caution	The sequence BAC11367.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital myasthenic syndrome Disease mutation
Ligand	Lipid-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuromuscular junction development Inferred from electronic annotation. Source: Compara positive regulation of protein tyrosine kinase activity Inferred from direct assay Ref.5. Source: UniProtKB receptor clustering Inferred from electronic annotation. Source: Compara
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW neuromuscular junction Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	phosphatidylinositol binding Inferred from electronic annotation. Source: Compara protein kinase binding Inferred from direct assay Ref.5. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q18PE1-1)

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.

Isoform 2 (identifier: Q18PE1-2)

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.

Isoform 3 (identifier: Q18PE1-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 504	504	Protein Dok-7		PRO_0000250371
Regions
	Domain	4 – 109	106	PH
	Domain	105 – 210	106	IRS-type PTB
	Compositional bias	262 – 359	98	Ser-rich
Natural variations
	Alternative sequence	1 – 138	138	Missing in isoform 2.		VSP_020633
	Alternative sequence	139 – 178	40	VLARD…RCGYW → MMSSSWPGTSPRLSRGSGSC LTSGATGPCQADSSLKAGPG in isoform 2.		VSP_020634
	Alternative sequence	500 – 504	5	VNPPP → GAAASAPGPATAHSGSPGPV AVDSPGPERPRGESPTYVNI PVSPSSRKQLHYMGLELQEA SEGVRGAGASLYAQIDIMAT ETAHRVGVRHARAREEQLSE LEQRKAAPQ in isoform 3.		VSP_020635
	Natural variant	3	1	E → K in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068750
	Natural variant	31	1	P → T in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068751
	Natural variant	33	1	A → V in LGM; results in reduced stimulation of MUSK autophosphorylation. Ref.5 Ref.7		VAR_068752
	Natural variant	45	1	S → L Does not affect AChR clusters number or complexity. Ref.8 Ref.9 Corresponds to variant rs62272670 [ dbSNP | Ensembl ].		VAR_068753
	Natural variant	77	1	T → M in LGM; results in a decrease of branched, c-shaped and perforated AChR clusters. Ref.9		VAR_068754
	Natural variant	99	1	A → V. Ref.9 Corresponds to variant rs138010842 [ dbSNP | Ensembl ].		VAR_068755
	Natural variant	109	1	G → C in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068756
	Natural variant	116	1	V → M in LGM. Ref.8		VAR_068757
	Natural variant	132	1	H → Q in LGM. Ref.7		VAR_068758
	Natural variant	139	1	V → L in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068759
	Natural variant	146	1	P → L in LGM. Ref.8		VAR_068760
	Natural variant	157	1	L → R in LGM. Ref.8		VAR_068761
	Natural variant	158	1	R → Q in LGM; reduced stimulation of MUSK autophosphorylation when associated with A-174; results in a significant reduction of AChR clusters. Ref.5 Ref.9 Corresponds to variant rs6811423 [ dbSNP | Ensembl ].		VAR_031246
	Natural variant	161	1	G → R in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068762
	Natural variant	166	1	G → R in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068763
	Natural variant	171	1	G → D in LGM; results in a significant reduction of AChR clusters. Ref.9		VAR_068764
	Natural variant	171	1	G → R in LGM. Ref.8		VAR_068765
	Natural variant	172	1	G → R in LGM. Ref.8		VAR_068766
	Natural variant	180	1	G → A in LGM; results in a significant reduction of AChR clusters. Ref.6 Ref.9		VAR_027544
	Natural variant	180	1	G → V in LGM. Ref.8		VAR_068767
	Natural variant	197	1	D → N. Ref.9 Corresponds to variant rs16844422 [ dbSNP | Ensembl ].		VAR_027545
	Natural variant	261	1	R → H. Ref.9 Corresponds to variant rs16844460 [ dbSNP | Ensembl ].		VAR_027546
	Natural variant	272	1	H → Q. Ref.9 Corresponds to variant rs115614731 [ dbSNP | Ensembl ].		VAR_068768
	Natural variant	296	1	Q → R. Ref.4 Ref.9 Corresponds to variant rs6811423 [ dbSNP | Ensembl ].		VAR_027547
	Natural variant	323	1	R → C. Ref.9 Corresponds to variant rs150728781 [ dbSNP | Ensembl ].		VAR_068769
	Natural variant	379	1	G → R. Corresponds to variant rs6831659 [ dbSNP | Ensembl ].		VAR_050508
	Natural variant	382	1	E → K. Ref.9		VAR_068770
	Natural variant	402	1	R → Q. Ref.9		VAR_068771
	Natural variant	415	1	P → S. Ref.9 Corresponds to variant rs16844464 [ dbSNP | Ensembl ].		VAR_027548
	Natural variant	427	1	G → D. Corresponds to variant rs2020433 [ dbSNP | Ensembl ].		VAR_027549
	Natural variant	440	1	A → T. Ref.9		VAR_068772
	Natural variant	451	1	R → W. Ref.9 Corresponds to variant rs16844470 [ dbSNP | Ensembl ].		VAR_027550
	Natural variant	461	1	G → D. Ref.2 Ref.4 Ref.9 Corresponds to variant rs9684786 [ dbSNP | Ensembl ].		VAR_027551
	Natural variant	469	1	P → H in LGM. Ref.7		VAR_068773
	Natural variant	503	1	P → T. Ref.9 Corresponds to variant rs184556570 [ dbSNP | Ensembl ].		VAR_068774
Experimental info
	Mutagenesis	30	1	S → W: Reduced stimulation of MUSK autophosphorylation. Ref.5
	Mutagenesis	32	1	V → A: Reduced stimulation of MUSK autophosphorylation. Ref.5
	Mutagenesis	174	1	R → A: Reduced stimulation of MUSK autophosphorylation; when associated with Q-158. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 25, 2006. Version 1. Checksum: 54750E0B0BC33317	FASTA	504	53,097
	10 20 30 40 50 60 MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG LRERSSLTLE 70 80 90 100 110 120 DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW DARIRYALGE VHRFHVTVAP 130 140 150 160 170 180 GTKLESGPAT LHLCNDVLVL ARDIPPAVTG QWKLSDLRRY GAVPSGFIFE GGTRCGYWAG 190 200 210 220 230 240 VFFLSSAEGE QISFLFDCIV RGISPTKGPF GLRPVLPDPS PPGPSTVEER VAQEALETLQ 250 260 270 280 290 300 LEKRLSLLSH AGRPGSGGDD RSLSSSSSEA SHLDVSASSR LTAWPEQSSS SASTSQEGPR 310 320 330 340 350 360 PAAAQAAGEA MVGASRPPPK PLRPRQLQEV GRQSSSDSGI ATGSHSSYSS SLSSYAGSSL 370 380 390 400 410 420 DVWRATDELG SLLSLPAAGA PEPSLCTCLP GTVEYQVPTS LRAHYDTPRS LCLAPRDHSP 430 440 450 460 470 480 PSQGSPGNSA ARDSGGQTSA GCPSGWLGTR RRGLVMEAPQ GSEATLPGPA PGEPWEAGGP 490 500 HAGPPPAFFS ACPVCGGLKV NPPP
	Isoform 2 [UniParc]. Checksum: 8CFC71602C970AC3	FASTA	366	37,161
	10 20 30 40 50 60 MMSSSWPGTS PRLSRGSGSC LTSGATGPCQ ADSSLKAGPG AGVFFLSSAE GEQISFLFDC 70 80 90 100 110 120 IVRGISPTKG PFGLRPVLPD PSPPGPSTVE ERVAQEALET LQLEKRLSLL SHAGRPGSGG 130 140 150 160 170 180 DDRSLSSSSS EASHLDVSAS SRLTAWPEQS SSSASTSQEG PRPAAAQAAG EAMVGASRPP 190 200 210 220 230 240 PKPLRPRQLQ EVGRQSSSDS GIATGSHSSY SSSLSSYAGS SLDVWRATDE LGSLLSLPAA 250 260 270 280 290 300 GAPEPSLCTC LPGTVEYQVP TSLRAHYDTP RSLCLAPRDH SPPSQGSPGN SAARDSGGQT 310 320 330 340 350 360 SAGCPSGWLG TRRRGLVMEA PQGSEATLPG PAPGEPWEAG GPHAGPPPAF FSACPVCGGL KVNPPP
	Isoform 3 [UniParc]. Checksum: 384FFACAA0AD8359	FASTA	608	63,938
	10 20 30 40 50 60 MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG LRERSSLTLE 70 80 90 100 110 120 DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW DARIRYALGE VHRFHVTVAP 130 140 150 160 170 180 GTKLESGPAT LHLCNDVLVL ARDIPPAVTG QWKLSDLRRY GAVPSGFIFE GGTRCGYWAG 190 200 210 220 230 240 VFFLSSAEGE QISFLFDCIV RGISPTKGPF GLRPVLPDPS PPGPSTVEER VAQEALETLQ 250 260 270 280 290 300 LEKRLSLLSH AGRPGSGGDD RSLSSSSSEA SHLDVSASSR LTAWPEQSSS SASTSQEGPR 310 320 330 340 350 360 PAAAQAAGEA MVGASRPPPK PLRPRQLQEV GRQSSSDSGI ATGSHSSYSS SLSSYAGSSL 370 380 390 400 410 420 DVWRATDELG SLLSLPAAGA PEPSLCTCLP GTVEYQVPTS LRAHYDTPRS LCLAPRDHSP 430 440 450 460 470 480 PSQGSPGNSA ARDSGGQTSA GCPSGWLGTR RRGLVMEAPQ GSEATLPGPA PGEPWEAGGP 490 500 510 520 530 540 HAGPPPAFFS ACPVCGGLKG AAASAPGPAT AHSGSPGPVA VDSPGPERPR GESPTYVNIP 550 560 570 580 590 600 VSPSSRKQLH YMGLELQEAS EGVRGAGASL YAQIDIMATE TAHRVGVRHA RAREEQLSEL EQRKAAPQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The muscle protein Dok-7 is essential for neuromuscular synaptogenesis." Okada K., Inoue A., Okada M., Murata Y., Kakuta S., Jigami T., Kubo S., Shiraishi H., Eguchi K., Motomura M., Akiyama T., Iwakura Y., Higuchi O., Yamanashi Y. Science 312:1802-1805(2006) [PubMed] [Europe PMC] [Abstract] 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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 271-504 (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]	"Dok-7 mutations underlie a neuromuscular junction synaptopathy." Beeson D., Higuchi O., Palace J., Cossins J., Spearman H., Maxwell S., Newsom-Davis J., Burke G., Fawcett P., Motomura M., Muller J.S., Lochmuller H., Slater C., Vincent A., Yamanashi Y. Science 313:1975-1978(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LGM ALA-180.
[7]	"Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes." Muller J.S., Herczegfalvi A., Vilchez J.J., Colomer J., Bachinski L.L., Mihaylova V., Santos M., Schara U., Deschauer M., Shevell M., Poulin C., Dias A., Soudo A., Hietala M., Aarimaa T., Krahe R., Karcagi V., Huebner A. , Beeson D., Abicht A., Lochmuller H. Brain 130:1497-1506(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LGM VAL-33; GLN-132 AND HIS-469.
[8]	"Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7." Ben Ammar A., Petit F., Alexandri N., Gaudon K., Bauche S., Rouche A., Gras D., Fournier E., Koenig J., Stojkovic T., Lacour A., Petiot P., Zagnoli F., Viollet L., Pellegrini N., Orlikowski D., Lazaro L., Ferrer X. , Stoltenburg G., Paturneau-Jouas M., Hentati F., Fardeau M., Sternberg D., Hantai D., Richard P., Eymard B. J. Neurol. 257:754-766(2010) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Web resources

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

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB220918 mRNA. Translation: BAE96739.1. AK075037 mRNA. Translation: BAC11367.1. Different initiation. AK091037 mRNA. Translation: BAC03572.1. AL590235 Genomic DNA. Translation: CAM21455.1. BC043568 mRNA. Translation: AAH43568.1. BC062369 mRNA. Translation: AAH62369.1. BC131544 mRNA. Translation: AAI31545.1. BC141852 mRNA. Translation: AAI41853.1.
IPI	IPI00168218. IPI00783555. IPI00783590.
RefSeq	NP_001158145.1. NM_001164673.1. NP_001243825.1. NM_001256896.1. NP_775931.3. NM_173660.4.
UniGene	Hs.122110. Hs.701584.
3D structure databases
ProteinModelPortal	Q18PE1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q18PE1. 1 interaction.
STRING	9606.ENSP00000344432.
PTM databases
PhosphoSite	Q18PE1.
Polymorphism databases
DMDM	115311705.
Proteomic databases
PaxDb	Q18PE1.
PRIDE	Q18PE1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000340083; ENSP00000344432; ENSG00000175920. ENST00000389653; ENSP00000374304; ENSG00000175920.
GeneID	285489.
KEGG	hsa:285489.
UCSC	uc003ghd.3. human. uc003ghg.1. human.
Organism-specific databases
CTD	285489.
GeneCards	GC04P003465.
HGNC	HGNC:26594. DOK7.
MIM	254300. phenotype. 610285. gene.
neXtProt	NX_Q18PE1.
Orphanet	994. Fetal akinesia deformation sequence. 98913. Postsynaptic congenital myasthenic syndromes.
PharmGKB	PA162384035.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG69734.
HOGENOM	HOG000230953.
HOVERGEN	HBG080009.
OMA	DCLLMLA.
Gene expression databases
ArrayExpress	Q18PE1.
Bgee	Q18PE1.
CleanEx	HS_DOK7.
Genevestigator	Q18PE1.
Family and domain databases
Gene3D	2.30.29.30. 2 hits.
InterPro	IPR002404. Insln_rcpt_S1. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. [Graphical view]
Pfam	PF02174. IRS. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. [Graphical view]
PROSITE	PS51064. IRS_PTB. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	285489.
NextBio	95544.
SOURCE	Search...

Entry information

Entry name

DOK7_HUMAN

Accession

Primary (citable) accession number: Q18PE1
Secondary accession number(s): A2A499 , A2RRD4, Q6P6A6, Q86XG5, Q8N2J3, Q8NBC1

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2006
Last sequence update:	July 25, 2006
Last modified:	May 1, 2013
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.