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O15146

- MUSK_HUMAN

UniProt

O15146 - MUSK_HUMAN

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Protein

Muscle, skeletal receptor tyrosine-protein kinase

Gene

MUSK

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

Functioni

Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).By similarity

Catalytic activityi

ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.PROSITE-ProRule annotation

Enzyme regulationi

Positively regulated by CK2.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei609 – 6091ATPPROSITE-ProRule annotation
Active sitei725 – 7251Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi581 – 5899ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. protein tyrosine kinase activity Source: UniProtKB
  3. transmembrane receptor protein tyrosine kinase activity Source: UniProtKB-EC

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. extracellular matrix organization Source: Reactome
  3. memory Source: UniProtKB
  4. multicellular organismal development Source: UniProtKB-KW
  5. neuromuscular junction development Source: UniProtKB
  6. peptidyl-tyrosine phosphorylation Source: GOC
  7. positive regulation of gene expression Source: UniProtKB
  8. positive regulation of neuron apoptotic process Source: Ensembl
  9. positive regulation of protein geranylgeranylation Source: UniProtKB
  10. positive regulation of protein phosphorylation Source: UniProtKB
  11. protein autophosphorylation Source: UniProtKB
  12. regulation of synaptic growth at neuromuscular junction Source: UniProtKB
  13. regulation of transcription, DNA-templated Source: Ensembl
  14. skeletal muscle acetylcholine-gated channel clustering Source: UniProtKB
  15. transmembrane receptor protein tyrosine kinase signaling pathway Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Kinase, Muscle protein, Receptor, Transferase, Tyrosine-protein kinase

Keywords - Biological processi

Differentiation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_163906. ECM proteoglycans.
SignaLinkiO15146.

Names & Taxonomyi

Protein namesi
Recommended name:
Muscle, skeletal receptor tyrosine-protein kinase (EC:2.7.10.1)
Alternative name(s):
Muscle-specific tyrosine-protein kinase receptor
Short name:
MuSK
Short name:
Muscle-specific kinase receptor
Gene namesi
Name:MUSK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:7525. MUSK.

Subcellular locationi

Cell junctionsynapsepostsynaptic cell membrane Curated; Single-pass type I membrane protein Curated
Note: Localizes to the postsynaptic cell membrane of the neuromuscular junction.Curated

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 495472ExtracellularSequence AnalysisAdd
BLAST
Transmembranei496 – 51621HelicalSequence AnalysisAdd
BLAST
Topological domaini517 – 869353CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. integral component of plasma membrane Source: UniProtKB
  3. neuromuscular junction Source: UniProtKB
  4. postsynaptic membrane Source: UniProtKB
  5. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti605 – 6051M → I in CMS-ACHRD; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering. 1 Publication
VAR_066604
Natural varianti727 – 7271A → V in CMS-ACHRD; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering. 1 Publication
VAR_066605
Natural varianti790 – 7901V → M in CMS-ACHRD; does not affect catalytic kinase activity; reduces protein expression and stability. 1 Publication
VAR_023046

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi608931. phenotype.
Orphaneti98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA31326.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Chaini24 – 869846Muscle, skeletal receptor tyrosine-protein kinasePRO_0000024446Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi49 ↔ 99By similarity
Disulfide bondi98 ↔ 112By similarity
Disulfide bondi142 ↔ 190By similarity
Glycosylationi222 – 2221N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi233 ↔ 282By similarity
Disulfide bondi317 ↔ 382By similarity
Disulfide bondi325 ↔ 375By similarity
Glycosylationi338 – 3381N-linked (GlcNAc...)By similarity
Disulfide bondi366 ↔ 406By similarity
Disulfide bondi394 ↔ 447By similarity
Disulfide bondi398 ↔ 434By similarity
Modified residuei554 – 5541Phosphotyrosine; by autocatalysisBy similarity
Modified residuei681 – 6811Phosphoserine; by CK2By similarity
Modified residuei698 – 6981Phosphoserine; by CK2By similarity
Modified residuei755 – 7551Phosphotyrosine; by autocatalysisBy similarity

Post-translational modificationi

Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity).By similarity
Phosphorylated. Phosphorylation is induced by AGRIN. Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK.
Neddylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiO15146.
PRIDEiO15146.

PTM databases

PhosphoSiteiO15146.

Expressioni

Gene expression databases

BgeeiO15146.
CleanExiHS_MUSK.
ExpressionAtlasiO15146. baseline.
GenevestigatoriO15146.

Interactioni

Subunit structurei

Monomer (By similarity). Homodimer (Probable). Interacts with LRP4; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via cytoplasmic part) with DOK7 (via IRS-type PTB domain); requires MUSK phosphorylation. Interacts with DVL1 (via DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts with PDZRN3; this interaction is enhanced by agrin (By similarity). Interacts with FNTA; the interaction is direct and mediates AGRIN-induced phosphorylation and activation of FNTA (By similarity). Interacts with CSNK2B; mediates regulation by CK2 (By similarity). Interacts (via the cytoplasmic domain) with DNAJA3 (By similarity). Interacts with NSF; may regulate MUSK endocytosis and activity (By similarity). Interacts with CAV3; may regulate MUSK signaling (By similarity). Interacts with RNF31 (By similarity).By similarityCurated

Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90AB1P082382EBI-6423196,EBI-352572

Protein-protein interaction databases

BioGridi110679. 5 interactions.
IntActiO15146. 6 interactions.
MINTiMINT-2983114.
STRINGi9606.ENSP00000363571.

Structurei

3D structure databases

ProteinModelPortaliO15146.
SMRiO15146. Positions 25-294, 314-454, 537-863.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini28 – 11689Ig-like 1Add
BLAST
Domaini121 – 20585Ig-like 2Add
BLAST
Domaini212 – 30291Ig-like 3Add
BLAST
Domaini312 – 450139FZPROSITE-ProRule annotationAdd
BLAST
Domaini575 – 856282Protein kinasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the protein kinase superfamily. Tyr protein kinase family.PROSITE-ProRule annotation
Contains 1 FZ (frizzled) domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118818.
HOGENOMiHOG000044461.
HOVERGENiHBG052539.
InParanoidiO15146.
KOiK05129.
OrthoDBiEOG76739G.
PhylomeDBiO15146.
TreeFamiTF106465.

Family and domain databases

Gene3Di1.10.2000.10. 1 hit.
2.60.40.10. 3 hits.
InterProiIPR020067. Frizzled_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
IPR008266. Tyr_kinase_AS.
IPR020635. Tyr_kinase_cat_dom.
[Graphical view]
PfamiPF01392. Fz. 1 hit.
PF07679. I-set. 2 hits.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
PRINTSiPR00109. TYRKINASE.
SMARTiSM00408. IGc2. 3 hits.
SM00219. TyrKc. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS50038. FZ. 1 hit.
PS50835. IG_LIKE. 3 hits.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00109. PROTEIN_KINASE_TYR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15146-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRELVNIPLV HILTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA
60 70 80 90 100
VESYPQPEIS WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCT
110 120 130 140 150
ANNGVGGAVE SCGALQVKMK PKITRPPINV KIIEGLKAVL PCTTMGNPKP
160 170 180 190 200
SVSWIKGDSP LRENSRIAVL ESGSLRIHNV QKEDAGQYRC VAKNSLGTAY
210 220 230 240 250
SKVVKLEVEV FARILRAPES HNVTFGSFVT LHCTATGIPV PTITWIENGN
260 270 280 290 300
AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT
310 320 330 340 350
ISIAEWSKPQ KDNKGYCAQY RGEVCNAVLA KDALVFLNTS YADPEEAQEL
360 370 380 390 400
LVHTAWNELK VVSPVCRPAA EALLCNHIFQ ECSPGVVPTP IPICREYCLA
410 420 430 440 450
VKELFCAKEW LVMEEKTHRG LYRSEMHLLS VPECSKLPSM HWDPTACARL
460 470 480 490 500
PHLDYNKENL KTFPPMTSSK PSVDIPNLPS SSSSSFSVSP TYSMTVIISI
510 520 530 540 550
MSSFAIFVLL TITTLYCCRR RKQWKNKKRE SAAVTLTTLP SELLLDRLHP
560 570 580 590 600
NPMYQRMPLL LNPKLLSLEY PRNNIEYVRD IGEGAFGRVF QARAPGLLPY
610 620 630 640 650
EPFTMVAVKM LKEEASADMQ ADFQREAALM AEFDNPNIVK LLGVCAVGKP
660 670 680 690 700
MCLLFEYMAY GDLNEFLRSM SPHTVCSLSH SDLSMRAQVS SPGPPPLSCA
710 720 730 740 750
EQLCIARQVA AGMAYLSERK FVHRDLATRN CLVGENMVVK IADFGLSRNI
760 770 780 790 800
YSADYYKANE NDAIPIRWMP PESIFYNRYT TESDVWAYGV VLWEIFSYGL
810 820 830 840 850
QPYYGMAHEE VIYYVRDGNI LSCPENCPVE LYNLMRLCWS KLPADRPSFT
860
SIHRILERMC ERAEGTVSV
Length:869
Mass (Da):97,056
Last modified:January 1, 1998 - v1
Checksum:i3DDC20E179FA010C
GO
Isoform 2 (identifier: O15146-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-209: E → EEESEPEQDTK
     307-394: Missing.
     454-462: DYNKENLKT → A

Show »
Length:783
Mass (Da):87,598
Checksum:i695BD37016C0D980
GO
Isoform 3 (identifier: O15146-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     307-394: Missing.
     454-462: DYNKENLKT → A

Show »
Length:773
Mass (Da):86,425
Checksum:i3BEA481E3C84D000
GO

Sequence cautioni

The sequence CAH69977.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAH69978.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI17349.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI17350.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271A → G.1 Publication
Corresponds to variant rs56054734 [ dbSNP | Ensembl ].
VAR_041748
Natural varianti100 – 1001T → M.1 Publication
Corresponds to variant rs35142681 [ dbSNP | Ensembl ].
VAR_041749
Natural varianti107 – 1071G → E.1 Publication
Corresponds to variant rs55786136 [ dbSNP | Ensembl ].
VAR_041750
Natural varianti159 – 1591S → G.1 Publication
Corresponds to variant rs35176182 [ dbSNP | Ensembl ].
VAR_041751
Natural varianti222 – 2221N → S.1 Publication
Corresponds to variant rs55826142 [ dbSNP | Ensembl ].
VAR_041752
Natural varianti413 – 4131M → I.1 Publication
Corresponds to variant rs2274419 [ dbSNP | Ensembl ].
VAR_021930
Natural varianti605 – 6051M → I in CMS-ACHRD; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering. 1 Publication
VAR_066604
Natural varianti629 – 6291L → F.1 Publication
Corresponds to variant rs34267283 [ dbSNP | Ensembl ].
VAR_041753
Natural varianti644 – 6441V → A.1 Publication
Corresponds to variant rs41279055 [ dbSNP | Ensembl ].
VAR_041754
Natural varianti664 – 6641N → S.1 Publication
Corresponds to variant rs55963442 [ dbSNP | Ensembl ].
VAR_041755
Natural varianti696 – 6961P → L.1 Publication
Corresponds to variant rs56126328 [ dbSNP | Ensembl ].
VAR_041756
Natural varianti727 – 7271A → V in CMS-ACHRD; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering. 1 Publication
VAR_066605
Natural varianti782 – 7821E → D.1 Publication
Corresponds to variant rs34614566 [ dbSNP | Ensembl ].
VAR_041757
Natural varianti790 – 7901V → M in CMS-ACHRD; does not affect catalytic kinase activity; reduces protein expression and stability. 1 Publication
VAR_023046
Natural varianti819 – 8191N → S in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication
VAR_041758
Natural varianti829 – 8291V → L.1 Publication
Corresponds to variant rs578430 [ dbSNP | Ensembl ].
VAR_033837
Natural varianti858 – 8581R → H.1 Publication
Corresponds to variant rs34115159 [ dbSNP | Ensembl ].
VAR_041759

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei209 – 2091E → EEESEPEQDTK in isoform 2. 1 PublicationVSP_035958
Alternative sequencei307 – 39488Missing in isoform 2 and isoform 3. 1 PublicationVSP_035959Add
BLAST
Alternative sequencei454 – 4629DYNKENLKT → A in isoform 2 and isoform 3. 1 PublicationVSP_035960

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006464 mRNA. Translation: AAB63044.1.
AL157881, AL513328 Genomic DNA. Translation: CAH69977.1. Sequence problems.
AL513328, AL157881 Genomic DNA. Translation: CAI17349.1. Sequence problems.
AL157881, AL513328 Genomic DNA. Translation: CAH69978.1. Sequence problems.
AL513328, AL157881 Genomic DNA. Translation: CAI17350.1. Sequence problems.
BC109098 mRNA. Translation: AAI09099.1.
BC109099 mRNA. Translation: AAI09100.1.
CCDSiCCDS48005.1. [O15146-1]
CCDS75874.1. [O15146-2]
RefSeqiNP_001159752.1. NM_001166280.1. [O15146-2]
NP_001159753.1. NM_001166281.1. [O15146-3]
NP_005583.1. NM_005592.3. [O15146-1]
UniGeneiHs.521653.

Genome annotation databases

EnsembliENST00000189978; ENSP00000189978; ENSG00000030304. [O15146-2]
ENST00000374448; ENSP00000363571; ENSG00000030304. [O15146-1]
GeneIDi4593.
KEGGihsa:4593.
UCSCiuc004bez.2. human. [O15146-2]
uc022blt.1. human. [O15146-1]
uc022blu.1. human. [O15146-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

MuSK entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006464 mRNA. Translation: AAB63044.1 .
AL157881 , AL513328 Genomic DNA. Translation: CAH69977.1 . Sequence problems.
AL513328 , AL157881 Genomic DNA. Translation: CAI17349.1 . Sequence problems.
AL157881 , AL513328 Genomic DNA. Translation: CAH69978.1 . Sequence problems.
AL513328 , AL157881 Genomic DNA. Translation: CAI17350.1 . Sequence problems.
BC109098 mRNA. Translation: AAI09099.1 .
BC109099 mRNA. Translation: AAI09100.1 .
CCDSi CCDS48005.1. [O15146-1 ]
CCDS75874.1. [O15146-2 ]
RefSeqi NP_001159752.1. NM_001166280.1. [O15146-2 ]
NP_001159753.1. NM_001166281.1. [O15146-3 ]
NP_005583.1. NM_005592.3. [O15146-1 ]
UniGenei Hs.521653.

3D structure databases

ProteinModelPortali O15146.
SMRi O15146. Positions 25-294, 314-454, 537-863.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110679. 5 interactions.
IntActi O15146. 6 interactions.
MINTi MINT-2983114.
STRINGi 9606.ENSP00000363571.

Chemistry

BindingDBi O15146.
ChEMBLi CHEMBL5684.
GuidetoPHARMACOLOGYi 1847.

PTM databases

PhosphoSitei O15146.

Proteomic databases

PaxDbi O15146.
PRIDEi O15146.

Protocols and materials databases

DNASUi 4593.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000189978 ; ENSP00000189978 ; ENSG00000030304 . [O15146-2 ]
ENST00000374448 ; ENSP00000363571 ; ENSG00000030304 . [O15146-1 ]
GeneIDi 4593.
KEGGi hsa:4593.
UCSCi uc004bez.2. human. [O15146-2 ]
uc022blt.1. human. [O15146-1 ]
uc022blu.1. human. [O15146-3 ]

Organism-specific databases

CTDi 4593.
GeneCardsi GC09P113431.
GeneReviewsi MUSK.
HGNCi HGNC:7525. MUSK.
MIMi 601296. gene.
608931. phenotype.
neXtProti NX_O15146.
Orphaneti 98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBi PA31326.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118818.
HOGENOMi HOG000044461.
HOVERGENi HBG052539.
InParanoidi O15146.
KOi K05129.
OrthoDBi EOG76739G.
PhylomeDBi O15146.
TreeFami TF106465.

Enzyme and pathway databases

Reactomei REACT_163906. ECM proteoglycans.
SignaLinki O15146.

Miscellaneous databases

ChiTaRSi MUSK. human.
GenomeRNAii 4593.
NextBioi 17656.
PROi O15146.
SOURCEi Search...

Gene expression databases

Bgeei O15146.
CleanExi HS_MUSK.
ExpressionAtlasi O15146. baseline.
Genevestigatori O15146.

Family and domain databases

Gene3Di 1.10.2000.10. 1 hit.
2.60.40.10. 3 hits.
InterProi IPR020067. Frizzled_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
IPR008266. Tyr_kinase_AS.
IPR020635. Tyr_kinase_cat_dom.
[Graphical view ]
Pfami PF01392. Fz. 1 hit.
PF07679. I-set. 2 hits.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view ]
PRINTSi PR00109. TYRKINASE.
SMARTi SM00408. IGc2. 3 hits.
SM00219. TyrKc. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS50038. FZ. 1 hit.
PS50835. IG_LIKE. 3 hits.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00109. PROTEIN_KINASE_TYR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury."
    Valenzuela D.M., Stitt T.N., DiStefano P.S., Rojas E., Mattsson K., Compton D.L., Nunez L., Park J.S., Stark J.L., Gies D.R., Thomas S., LeBeau M.M., Fernald A.A., Copeland N.G., Jenkins N.A., Burden S.J., Glass D.J., Yancopoulos G.D.
    Neuron 15:573-584(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2 AND 3).
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 2 AND 3).
  4. "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 DOK7.
  5. "Development and validation of a method for profiling post-translational modification activities using protein microarrays."
    Del Rincon S.V., Rogers J., Widschwendter M., Sun D., Sieburg H.B., Spruck C.
    PLoS ONE 5:E11332-E11332(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: NEDDYLATION.
  6. Cited for: VARIANT CMS-ACHRD MET-790.
  7. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-27; MET-100; GLU-107; GLY-159; SER-222; ILE-413; PHE-629; ALA-644; SER-664; LEU-696; ASP-782; SER-819; LEU-829 AND HIS-858.
  8. "Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction."
    Maselli R.A., Arredondo J., Cagney O., Ng J.J., Anderson J.A., Williams C., Gerke B.J., Soliven B., Wollmann R.L.
    Hum. Mol. Genet. 19:2370-2379(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMS-ACHRD ILE-605 AND VAL-727, CHARACTERIZATION OF VARIANTS CMS-ACHRD ILE-605 AND VAL-727.

Entry informationi

Entry nameiMUSK_HUMAN
AccessioniPrimary (citable) accession number: O15146
Secondary accession number(s): Q32MJ8
, Q32MJ9, Q5VZW7, Q5VZW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: January 1, 1998
Last modified: October 29, 2014
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3