Sequence of MUSK_HUMAN
EC Number:2.7.10.1
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
Other sequences found for EC No. 2.7.10.1
General information:
Sequence
0 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
Download this sequence
in fasta formatDownload all sequences for 2.7.10.1
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
62767
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
62768
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
62769
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
62770
Bergamin E.,Hallock P.T.,Burden S.J.,Hubbard S.R.
The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.
Mol. Cell
39
100-109
2010
62771
Del Rincon S.V.,Rogers J.,Widschwendter M.,Sun D.,Sieburg H.B.,Spruck C.
Development and validation of a method for profiling post-translational modification activities using protein microarrays.
PLoS ONE
5
0-0
2010
62772
Bainbridge T.W.,DeAlmeida V.I.,Izrael-Tomasevic A.,Chalouni C.,Pan B.,Goldsmith J.,Schoen A.P.,Quinones G.A.,Kelly R.,Lill J.R.,Sandoval W.,Costa M.,Polakis P.,Arnott D.,Rubinfeld B.,Ernst J.A.
Evolutionary divergence in the catalytic activity of the CAM-1, ROR1 and ROR2 kinase domains.
PLoS ONE
9
0-0
2014
62773
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
62774
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
62775
Mihaylova V.,Salih M.A.,Mukhtar M.M.,Abuzeid H.A.,El-Sadig S.M.,von der Hagen M.,Huebner A.,Nurnberg G.,Abicht A.,Muller J.S.,Lochmuller H.,Guergueltcheva V.
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Neurology
73
1926-1928
2009
62776
Maselli R.A.,Arredondo J.,Cagney O.,Ng J.J.,Anderson J.A.,Williams C.,Gerke B.J.,Soliven B.,Wollmann R.L.
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Hum. Mol. Genet.
19
2370-2379
2010
62777
Ben Ammar A.,Soltanzadeh P.,Bauche S.,Richard P.,Goillot E.,Herbst R.,Gaudon K.,Huze C.,Schaeffer L.,Yamanashi Y.,Higuchi O.,Taly A.,Koenig J.,Leroy J.P.,Hentati F.,Najmabadi H.,Kahrizi K.,Ilkhani M.,Fardeau M.,Eymard B.,Hantai D.
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
PLoS ONE
8
0-0
2013
62778
Tan-Sindhunata M.B.,Mathijssen I.B.,Smit M.,Baas F.,de Vries J.I.,van der Voorn J.P.,Kluijt I.,Hagen M.A.,Blom E.W.,Sistermans E.,Meijers-Heijboer H.,Waisfisz Q.,Weiss M.M.,Groffen A.J.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Eur. J. Hum. Genet.
23
1151-1157
2015
62779
Gallenmuller C.,Muller-Felber W.,Dusl M.,Stucka R.,Guergueltcheva V.,Blaschek A.,von der Hagen M.,Huebner A.,Muller J.S.,Lochmuller H.,Abicht A.
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Neuromuscul. Disord.
24
31-35
2014
62780
Wilbe M.,Ekvall S.,Eurenius K.,Ericson K.,Casar-Borota O.,Klar J.,Dahl N.,Ameur A.,Anneren G.,Bondeson M.L.
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
J. Med. Genet.
52
195-202
2015
