KEGG   Homo sapiens (human): 4593
Entry
4593              CDS       T01001                                 
Symbol
MUSK, CMS9, FADS, FADS1
Name
(RefSeq) muscle associated receptor tyrosine kinase
  KO
K05129  muscle, skeletal, receptor tyrosine kinase [EC:2.7.10.1]
Organism
hsa  Homo sapiens (human)
Disease
H00770  Congenital myasthenic syndrome
H00987  Fetal akinesia deformation sequence
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    4593 (MUSK)
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]
 Receptor tyrosine kinases (RTK)
  MUSK family
   4593 (MUSK)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr I-set Ig_3 Pkinase Ig_2 ig Fz C2-set_2 V-set C2-set_3 Ig_VEGFR-1-like_5th CD34_antigen Haspin_kinase Izumo-Ig
Other DBs
NCBI-GeneID: 4593
NCBI-ProteinID: NP_005583
OMIM: 601296
HGNC: 7525
Ensembl: ENSG00000030304
UniProt: O15146
Structure
Position
9:110668791..110806558
AA seq 869 aa
MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEIS
WTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMK
PKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNV
QKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPV
PTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAAT
ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELK
VVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPS
SSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLP
SELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPY
EPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAY
GDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERK
FVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYT
TESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS
KLPADRPSFTSIHRILERMCERAEGTVSV
NT seq 2610 nt   +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

  All links  
Disease (4)   
   OMIM (4)   
Gene (16)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (26)   
   RefSeq(nuc) (14)   
   GenBank (6)   
   EMBL (6)   
3D Structure (1)   
   PDB (1)   
Protein domain (14)   
   Pfam (14)   
All databases (77)   

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