Tag |
Content |
dbPAF ID |
dbPAF-0000872 |
Uniprot Accession |
O15146; MUSK_HUMAN; Q32MJ8; Q32MJ9; Q5VZW7; Q5VZW8; |
Genbank Protein ID |
NP_001159752.1; NP_001159753.1; NP_005583.1; |
Genbank Nucleotide ID |
NM_001166280.1; NM_001166281.1; NM_005592.3; |
Protein Name |
Muscle, skeletal receptor tyrosine-protein kinase |
Protein Synonyms/Alias |
Muscle-specific tyrosine-protein kinase receptor;MuSK;Muscle-specific kinase receptor; |
Gene Name |
MUSK |
Gene Synonyms/Alias |
|
Organism |
Homo sapiens(Human) |
NCBI Taxa ID |
9606 |
Functional Description (View all) |
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 (PubMed:25537362). 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).Functional Description
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 (PubMed:25537362). 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).
|
Phosphorylation Sites
|
dbPAF PTMs: 17 |
Sequence (Fasta) | MRELVNIPLV HILTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA VESYPQPEIS 60 WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCT ANNGVGGAVE SCGALQVKMK 120 PKITRPPINV KIIEGLKAVL PCTTMGNPKP SVSWIKGDSP LRENSRIAVL ESGSLRIHNV 180 QKEDAGQYRC VAKNSLGTAY SKVVKLEVEV FARILRAPES HNVTFGSFVT LHCTATGIPV 240 PTITWIENGN AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT 300 ISIAEWSKPQ KDNKGYCAQY RGEVCNAVLA KDALVFLNTS YADPEEAQEL LVHTAWNELK 360 VVSPVCRPAA EALLCNHIFQ ECSPGVVPTP IPICREYCLA VKELFCAKEW LVMEEKTHRG 420 LYRSEMHLLS VPECSKLPSM HWDPTACARL PHLDYNKENL KTFPPMTSSK PSVDIPNLPS 480 SSSSSFSVSP TYSMTVIISI MSSFAIFVLL TITTLYCCRR RKQWKNKKRE SAAVTLTTLP 540 SELLLDRLHP NPMYQRMPLL LNPKLLSLEY PRNNIEYVRD IGEGAFGRVF QARAPGLLPY 600 EPFTMVAVKM LKEEASADMQ ADFQREAALM AEFDNPNIVK LLGVCAVGKP MCLLFEYMAY 660 GDLNEFLRSM SPHTVCSLSH SDLSMRAQVS SPGPPPLSCA EQLCIARQVA AGMAYLSERK 720 FVHRDLATRN CLVGENMVVK IADFGLSRNI YSADYYKANE NDAIPIRWMP PESIFYNRYT 780 TESDVWAYGV VLWEIFSYGL QPYYGMAHEE VIYYVRDGNI LSCPENCPVE LYNLMRLCWS 840 KLPADRPSFT SIHRILERMC ERAEGTVSV
Fasta Sequence
>O15146|MUSK|Homo sapiens(Human) MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWSKLPADRPSFTSIHRILERMCERAEGTVSV
|
Keyword |
KW-0025--Alternative splicing KW-0067--ATP-binding KW-0965--Cell junction KW-1003--Cell membrane KW-0181--Complete proteome KW-1004--Congenital myasthenic syndrome KW-0217--Developmental protein KW-0221--Differentiation KW-0225--Disease mutation KW-1015--Disulfide bond KW-0325--Glycoprotein KW-0393--Immunoglobulin domain KW-0418--Kinase KW-0460--Magnesium KW-0472--Membrane KW-0479--Metal-binding KW-0514--Muscle protein KW-0547--Nucleotide-binding KW-0597--Phosphoprotein KW-0621--Polymorphism KW-0628--Postsynaptic cell membrane KW-0675--Receptor KW-1185--Reference proteome KW-0677--Repeat KW-0732--Signal KW-0770--Synapse KW-0808--Transferase KW-0812--Transmembrane KW-1133--Transmembrane helix KW-0829--Tyrosine-protein kinase KW-0832--Ubl conjugation
|
Interpro |
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
|
PROSITE |
PS50038--FZ PS50835--IG_LIKE PS00107--PROTEIN_KINASE_ATP PS50011--PROTEIN_KINASE_DOM PS00109--PROTEIN_KINASE_TYR
|
Pfam |
PF01392--Fz PF07679--I-set PF07714--Pkinase_Tyr
|
Gene Ontology |
GO:0030054--C:cell junction GO:0005887--C:integral component of plasma membrane GO:0031594--C:neuromuscular junction GO:0045211--C:postsynaptic membrane GO:0043235--C:receptor complex GO:0005524--F:ATP binding GO:0046872--F:metal ion binding GO:0004713--F:protein tyrosine kinase activity GO:0004714--F:transmembrane receptor protein tyrosine kinase activity GO:0030154--P:cell differentiation GO:0030198--P:extracellular matrix organization GO:0007613--P:memory GO:0007275--P:multicellular organismal development GO:0007528--P:neuromuscular junction development GO:0018108--P:peptidyl-tyrosine phosphorylation GO:0010628--P:positive regulation of gene expression GO:0043525--P:positive regulation of neuron apoptotic process GO:2000541--P:positive regulation of protein geranylgeranylation GO:0001934--P:positive regulation of protein phosphorylation GO:0046777--P:protein autophosphorylation GO:0008582--P:regulation of synaptic growth at neuromuscular junction GO:0006355--P:regulation of transcription, DNA-templated GO:0071340--P:skeletal muscle acetylcholine-gated channel clustering GO:0007169--P:transmembrane receptor protein tyrosine kinase signaling pathway
|