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UniProtKB/Swiss-Prot entry O15146


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name MUSK_HUMAN
Primary accession number O15146
Secondary accession numbers Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8
Integrated into Swiss-Prot on July 19, 2004
Sequence was last modified on January 1, 1998 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 80)
Name and origin of the protein
Protein name Muscle, skeletal receptor tyrosine protein kinase [Precursor]
Synonyms EC 2.7.10.1
Muscle-specific tyrosine protein kinase receptor
Muscle-specific kinase receptor
MuSK
Gene name
Name: MUSK
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1016/0896-6273(95)90146-9; PubMed=7546737 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury.";
Neuron 15:573-584(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Valenzuela D.M., Rojas E., Yancopoulos G.D.;
Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
VARIANT CONGENITAL MYASTHENIC SYNDROME MET-790.
DOI=10.1093/hmg/ddh333; PubMed=15496425 [NCBI, ExPASy, EBI, Israel, Japan]
Chevessier F., Faraut B., Ravel-Chapuis A., Richard P., Gaudon K., Bauche S., Prioleau C., Herbst R., Goillot E., Ioos C., Azulay J.-P., Attarian S., Leroy J.-P., Fournier E., Legay C., Schaeffer L., Koenig J., Fardeau M., Eymard B., Pouget J., Hantai D.;
"MUSK, a new target for mutations causing congenital myasthenic syndrome.";
Hum. Mol. Genet. 13:3229-3240(2004).
[6]
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.
DOI=10.1038/nature05610; PubMed=17344846 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF006464; AAB63044.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL157881; CAH69977.1; ALT_SEQ; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL513328; CAH69977.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL513328; CAI17349.1; ALT_SEQ; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL157881; CAI17349.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL157881; CAH69978.1; ALT_SEQ; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL513328; CAH69978.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL513328; CAI17350.1; ALT_SEQ; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL157881; CAI17350.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC109098; AAI09099.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC109099; AAI09100.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00289243; -.
IPI00655599; -.
IPI00915471; -.
RefSeq NP_005583.1; -.
UniGene Hs.521653
3D structure databases
HSSP Q62838; 1LUF. [HSSP ENTRY / PDB]
SMR O15146; 25-211.
ModBase O15146.
PTM databases
PhosphoSite O15146; -.
Enzyme and pathway databases
BRENDA 2.7.10.1; 247.
Organism-specific databases
GeneCards GC09P112470; -.
H-InvDB HIX0034744; -.
HGNC HGNC:7525; MUSK.
GenAtlas MUSK.
MIM 600878; gene. [NCBI / EBI]
601296; gene. [NCBI / EBI]
608931; phenotype. [NCBI / EBI]
Orphanet 590; Congenital myasthenic syndromes.
PharmGKB PA31326; -.
Gene expression databases
ArrayExpress O15146; -.
Bgee O15146; -.
CleanEx HS_MUSK; -.
GermOnline ENSG00000030304; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0005524; Molecular function: ATP binding (inferred from electronic annotation from UniProtKB-KW).
GO:0004714; Molecular function: transmembrane receptor protein tyrosine kinase activity (traceable author statement from ProtInc).
GO:0007517; Biological process: muscle organ development (traceable author statement from ProtInc).
GO:0006468; Biological process: protein amino acid phosphorylation (inferred from electronic annotation from InterPro).
GO:0007169; Biological process: transmembrane receptor protein tyrosine kinase signaling pathway (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR007110; Ig-like.
IPR013783; Ig-like_fold.
IPR013098; Ig_I-set.
IPR003598; Ig_sub2.
IPR000719; Prot_kinase_core.
IPR017441; Protein_kinase_ATP_BS.
IPR001245; Tyr_pkinase.
IPR008266; Tyr_pkinase_AS.
Graphical view of domain structure.
Gene3D G3DSA:2.60.40.10; Ig-like_fold; 3.
Pfam PF07679; I-set; 3.
PF07714; Pkinase_Tyr; 1.
Pfam graphical view of domain structure.
PRINTS PR00109; TYRKINASE.
ProDom PD000001; Prot_kinase; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00408; IGc2; 3.
SM00219; TyrKc; 1.
SMART graphical view of domain structure.
PROSITE PS50038; FZ; 1.
PS50835; IG_LIKE; 3.
PS00107; PROTEIN_KINASE_ATP; 1.
PS50011; PROTEIN_KINASE_DOM; 1.
PS00109; PROTEIN_KINASE_TYR; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O15146; -.
Genome annotation databases
Ensembl ENSG00000030304; Homo sapiens. [Contig view]
GeneID 4593; -.
KEGG hsa:4593; -.
Phylogenomic databases
HOVERGEN O15146; -.
Other
NextBio 17656; -.
SOURCE MUSK; Homo sapiens.
ProtoNet O15146.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; ATP-binding; Disease mutation; Disulfide bond; Glycoprotein; Immunoglobulin domain; Kinase; Membrane; Nucleotide-binding; Phosphoprotein; Polymorphism; Receptor; Repeat; Signal; Transferase; Transmembrane; Tyrosine-protein kinase.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    23  23     Potential. 
CHAIN   24   869  846     Muscle, skeletal receptor tyrosine protein kinase. PRO_0000024446
TOPO_DOM   24   495  472     Extracellular (Potential). 
TRANSMEM   496   516  21     Potential. 
TOPO_DOM   517   869  353     Cytoplasmic (Potential). 
DOMAIN   28   116  89     Ig-like 1. 
DOMAIN   121   205  85     Ig-like 2. 
DOMAIN   212   302  91     Ig-like 3. 
DOMAIN   312   450  139     FZ. 
DOMAIN   575   856  282     Protein kinase. 
NP_BIND   581   589  9     ATP (By similarity). 
ACT_SITE   725   725        Proton acceptor (By similarity). 
BINDING   609   609        ATP (By similarity). 
MOD_RES   755   755        Phosphotyrosine; by autocatalysis (By similarity). 
CARBOHYD   222   222        N-linked (GlcNAc...) (Potential). 
CARBOHYD   338   338        N-linked (GlcNAc...) (Potential). 
DISULFID   49    99        By similarity. 
DISULFID   142   190        By similarity. 
DISULFID   233   282        By similarity. 
DISULFID   317   382        By similarity. 
DISULFID   325   375        By similarity. 
DISULFID   366   406        By similarity. 
DISULFID   394   447        By similarity. 
DISULFID   398   434        By similarity. 
VAR_SEQ   209   209        E -> EEESEPEQDTK (in isoform 2). VSP_035958
VAR_SEQ   307   394        Missing (in isoform 2 and isoform 3). VSP_035959
VAR_SEQ   454   462        DYNKENLKT -> A (in isoform 2 and isoform 3). VSP_035960
VARIANT   27    27  1     A -> G. VAR_041748 
VARIANT   100   100  1     T -> M. VAR_041749 
VARIANT   107   107  1     G -> E. VAR_041750 
VARIANT   159   159  1     S -> G (in dbSNP:rs35176182 [NCBI]). VAR_041751 
VARIANT   222   222  1     N -> S. VAR_041752 
VARIANT   413   413  1     M -> I (in dbSNP:rs2274419 [NCBI]). VAR_021930 
VARIANT   629   629  1     L -> F. VAR_041753 
VARIANT   644   644  1     V -> A. VAR_041754 
VARIANT   664   664  1     N -> S. VAR_041755 
VARIANT   696   696  1     P -> L. VAR_041756 
VARIANT   782   782  1     E -> D. VAR_041757 
VARIANT   790   790  1     V -> M (in a case of congenital myasthenic syndrome; does not affect catalytic kinase activity; reduces protein expression and stability). VAR_023046 
VARIANT   819   819  1     N -> S (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_041758 
VARIANT   829   829  1     V -> L (in dbSNP:rs578430 [NCBI]). VAR_033837 
VARIANT   858   858  1     R -> H. VAR_041759 
Sequence information
Length: 869 AA [This is the length of the unprocessed precursor] Molecular weight: 97056 Da [This is the MW of the unprocessed precursor] CRC64: 3DDC20E179FA010C [This is a checksum on the sequence]
        10         20         30         40         50         60 
MRELVNIPLV HILTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA VESYPQPEIS 

        70         80         90        100        110        120 
WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCT ANNGVGGAVE SCGALQVKMK 

       130        140        150        160        170        180 
PKITRPPINV KIIEGLKAVL PCTTMGNPKP SVSWIKGDSP LRENSRIAVL ESGSLRIHNV 

       190        200        210        220        230        240 
QKEDAGQYRC VAKNSLGTAY SKVVKLEVEV FARILRAPES HNVTFGSFVT LHCTATGIPV 

       250        260        270        280        290        300 
PTITWIENGN AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT 

       310        320        330        340        350        360 
ISIAEWSKPQ KDNKGYCAQY RGEVCNAVLA KDALVFLNTS YADPEEAQEL LVHTAWNELK 

       370        380        390        400        410        420 
VVSPVCRPAA EALLCNHIFQ ECSPGVVPTP IPICREYCLA VKELFCAKEW LVMEEKTHRG 

       430        440        450        460        470        480 
LYRSEMHLLS VPECSKLPSM HWDPTACARL PHLDYNKENL KTFPPMTSSK PSVDIPNLPS 

       490        500        510        520        530        540 
SSSSSFSVSP TYSMTVIISI MSSFAIFVLL TITTLYCCRR RKQWKNKKRE SAAVTLTTLP 

       550        560        570        580        590        600 
SELLLDRLHP NPMYQRMPLL LNPKLLSLEY PRNNIEYVRD IGEGAFGRVF QARAPGLLPY 

       610        620        630        640        650        660 
EPFTMVAVKM LKEEASADMQ ADFQREAALM AEFDNPNIVK LLGVCAVGKP MCLLFEYMAY 

       670        680        690        700        710        720 
GDLNEFLRSM SPHTVCSLSH SDLSMRAQVS SPGPPPLSCA EQLCIARQVA AGMAYLSERK 

       730        740        750        760        770        780 
FVHRDLATRN CLVGENMVVK IADFGLSRNI YSADYYKANE NDAIPIRWMP PESIFYNRYT 

       790        800        810        820        830        840 
TESDVWAYGV VLWEIFSYGL QPYYGMAHEE VIYYVRDGNI LSCPENCPVE LYNLMRLCWS 

       850        860 
KLPADRPSFT SIHRILERMC ERAEGTVSV 

O15146 in FASTA format

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