KEGG   Homo sapiens (human): 4593Help
Entry
4593              CDS       T01001                                 

Gene name
MUSK, CMS9, FADS
Definition
(RefSeq) muscle associated receptor tyrosine kinase (EC:2.7.10.1)
  KO
K05129  
muscle, skeletal, receptor tyrosine kinase [EC:2.7.10.1]
Organism
hsa  Homo sapiens (human)
Disease
H00770  
Congenital myasthenic syndrome
Brite
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.10  Protein-tyrosine kinases
    2.7.10.1  receptor protein-tyrosine kinase
     4593 (MUSK)
Protein kinases [BR:hsa01001]
 Tyrosine protein kinases
  Musk family
   4593 (MUSK)
Enzyme-linked receptors [BR:hsa01020]
 Receptor tyrosine kinases
  RTK class XVII (MuSK receptor family)
   4593 (MUSK)
Cytokine receptors [BR:hsa04050]
 Receptor tyrosine kinase
  RTK class XVII (MuSK receptor family)
   4593 (MUSK)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
9q31.3-q32
AA seq 869 aa AA seqDB search
MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEIS
WTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMK
PKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNV
QKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPV
PTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAAT
ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELK
VVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPS
SSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLP
SELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPY
EPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAY
GDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERK
FVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYT
TESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS
KLPADRPSFTSIHRILERMCERAEGTVSV
NT seq 2610 nt NT seq  +upstreamnt  +downstreamnt
atgagagagctcgtcaacattccactggtacatattcttactctggttgccttcagcgga
actgagaaacttccaaaagctcctgtcatcaccactcctcttgaaacagtggatgcctta
gttgaagaagtggctactttcatgtgtgcagtggaatcctacccccagcctgagatttcc
tggactagaaataaaattctcattaaactctttgacacccggtacagcatccgggagaat
gggcagctcctcaccatcctgagtgtggaagacagtgatgatggcatttactgctgcacg
gccaacaatggtgtgggaggagctgtggagagttgtggagccctgcaagtgaagatgaaa
cctaaaataactcgtcctcccataaatgtgaaaataatagagggattaaaagcagtccta
ccatgtactacaatgggtaatcccaaaccatcagtgtcttggataaagggagacagccct
ctcagggaaaattcccgaattgcagttcttgaatctgggagcttgaggattcataacgta
caaaaggaagatgcaggacagtatcgatgtgtggcaaaaaacagcctcgggacagcatat
tccaaagtggtgaagctggaagttgaggtttttgccaggatcctgcgggctcctgaatcc
cacaatgtcacctttggctcctttgtgaccctgcactgtacagcaacaggcattcctgtc
cccaccatcacctggattgaaaacggaaatgctgtttcttctgggtccattcaagagagt
gtgaaagaccgagtgattgactcaagactgcagctgtttatcaccaagccaggactctac
acatgcatagctaccaataagcatggggagaagttcagtactgccaaggctgcagccacc
atcagcatagcagaatggagtaaaccacagaaagataacaaaggctactgcgcccagtac
agaggggaggtgtgtaatgcagtcctggcaaaagatgctcttgtttttctcaacacctcc
tatgcggaccctgaggaggcccaagagctactggtccacacggcctggaatgaactgaaa
gtagtgagcccagtctgccggccagctgctgaggctttgttgtgtaaccacatcttccag
gagtgcagtcctggagtagtgcctactcctattcccatttgcagagagtactgcttggca
gtaaaggagctcttctgcgcaaaagaatggctggtaatggaagagaagacccacagagga
ctctacagatccgagatgcatttgctgtccgtgccagaatgcagcaagcttcccagcatg
cattgggaccccacggcctgtgccagactgccacatctagattataacaaagaaaaccta
aaaacattcccaccaatgacgtcctcaaagccaagtgtggacattccaaatctgccttcc
tcctcctcttcttccttctctgtctcacctacatactccatgactgtaataatctccatc
atgtccagctttgcaatatttgtgcttcttaccataactactctctattgctgccgaaga
agaaaacaatggaaaaataagaaaagagaatcagcagcagtaaccctcaccacactgcct
tctgagctcttactagatagacttcatcccaaccccatgtaccagaggatgccgctcctt
ctgaaccccaaattgctcagcctggagtatccaaggaataacattgaatatgtgagagac
atcggagagggagcgtttggaagggtgtttcaagcaagggcaccaggcttacttccctat
gaacctttcactatggtggcagtaaagatgctcaaagaagaagcctcggcagatatgcaa
gcggactttcagagggaggcagccctcatggcagaatttgacaaccctaacattgtgaag
ctattaggagtgtgtgctgtcgggaagccaatgtgcctgctctttgaatacatggcctat
ggtgacctcaatgagttcctccgcagcatgtcccctcacaccgtgtgcagcctcagtcac
agtgacttgtctatgagggctcaggtctccagccctgggcccccacccctctcctgtgct
gagcagctttgcattgccaggcaggtggcagctggcatggcttacctctcagaacgtaag
tttgttcaccgagatttagccaccaggaactgcctggtgggcgagaacatggtggtgaaa
attgccgactttggcctctccaggaacatctactcagcagactactacaaagctaatgaa
aacgacgctatccctatccgttggatgccaccagagtccattttttataaccgctacact
acagagtctgatgtgtgggcctatggcgtggtcctctgggagatcttctcctatggcctg
cagccctactatgggatggcccatgaggaggtcatttactacgtgcgagatggcaacatc
ctctcctgccctgagaactgccccgtggagctgtacaatctcatgcgtctatgttggagc
aagctgcctgcagacagacccagtttcaccagtattcaccgaattctggaacgcatgtgt
gagagggcagagggaactgtgagtgtctaa

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