Homo sapiens (human): 4593
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PK_Tyr_Ser-Thr
I-set
Ig_3
Pkinase
Ig_2
ig
Fz
C2-set_2
V-set
CD34_antigen
Haspin_kinase
Shisa
Izumo-Ig
Motif
Other DBs
NCBI-GeneID:
4593
NCBI-ProteinID:
NP_005583
OMIM:
601296
HGNC:
7525
Ensembl:
ENSG00000030304
UniProt:
O15146
Structure
PDB
LinkDB
All DBs
Position
9:110668791..110806558
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AA seq
869 aa
AA seq
DB search
MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEIS
WTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMK
PKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNV
QKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPV
PTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAAT
ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELK
VVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPS
SSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLP
SELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPY
EPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAY
GDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERK
FVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYT
TESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS
KLPADRPSFTSIHRILERMCERAEGTVSV
NT seq
2610 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system