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 Ig_6 CD34_antigen Izumo-Ig
Other DBs
NCBI-GeneID: 4593
NCBI-ProteinID: NP_005583
OMIM: 601296
HGNC: 7525
Ensembl: ENSG00000030304
Vega: OTTHUMG00000020485
Pharos: O15146(Tchem)
UniProt: O15146
Position
9q31.3
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

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Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (21)   
   RefSeq(nuc) (9)   
   GenBank (6)   
   EMBL (6)   
Protein domain (12)   
   Pfam (12)   
All databases (73)   

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