KEGG   Homo sapiens (human): 4607
Entry
4607              CDS       T01001                                 
Symbol
MYBPC3, CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C
Name
(RefSeq) myosin binding protein C3
  KO
K12568  myosin-binding protein C, cardiac-type
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H01216  Left ventricular noncompaction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    4607 (MYBPC3)
   05414 Dilated cardiomyopathy
    4607 (MYBPC3)
SSDB
Motif
Pfam: I-set Ig_3 fn3 ig Ig_2 V-set THB C2-set_2 PKD_3 Herpes_gE_N
Other DBs
NCBI-GeneID: 4607
NCBI-ProteinID: NP_000247
OMIM: 600958
HGNC: 7551
Ensembl: ENSG00000134571
Vega: OTTHUMG00000166986
Pharos: Q14896(Tbio)
UniProt: Q14896 A5YM48
Structure
LinkDB
Position
11:complement(47331406..47352702)
AA seq 1274 aa
MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATE
GTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEA
PAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAG
ASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELHITDAQPAFTGSYRCE
VSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLK
KRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEK
KSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRT
LTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEE
GAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIV
QEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHK
LTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIV
VVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCE
TEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVIDVPDAPAAPKI
SNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGV
VYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGG
LDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTE
PVTVQEILQRPRLQLPRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVS
IRNSPTDTILFIRAARRVHSGTYQVTVRIENMEDKATLVLQVVDKPSPPQDLRVTDAWGL
NVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVF
SQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAML
CCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQG
EARCECRLEVRVPQ
NT seq 3825 nt   +upstreamnt  +downstreamnt
atgcctgagccggggaagaagccagtctcagcttttagcaagaagccacggtcagtggaa
gtggccgcaggcagccctgccgtgttcgaggccgagacagagcgggcaggagtgaaggtg
cgctggcagcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccacagag
ggcacacggcatacgctgacagtgcgggaagtgggccctgccgaccagggatcttacgca
gtcattgctggctcctccaaggtcaagttcgacctcaaggtcatagaggcagagaaggca
gagcccatgctggcccctgcccctgcccctgctgaggccactggagcccctggagaagcc
ccggccccagccgctgagctgggagaaagtgccccaagtcccaaagggtcaagctcagca
gctctcaatggtcctacccctggagcccccgatgaccccattggcctcttcgtgatgcgg
ccacaggatggcgaggtgaccgtgggtggcagcatcaccttctcagcccgcgtggccggc
gccagcctcctgaagccgcctgtggtcaagtggttcaagggcaaatgggtggacctgagc
agcaaggtgggccagcacctgcagctgcacgacagctacgaccgcgccagcaaggtctat
ctgttcgagctgcacatcaccgatgcccagcctgccttcactggcagctaccgctgtgag
gtgtccaccaaggacaaatttgactgctccaacttcaatctcactgtccacgaggccatg
ggcaccggagacctggacctcctatcagccttccgccgcacgagcctggctggaggtggt
cggcggatcagtgatagccatgaggacactgggattctggacttcagctcactgctgaaa
aagagagacagtttccggaccccgagggactcgaagctggaggcaccagcagaggaggac
gtgtgggagatcctacggcaggcacccccatctgagtacgagcgcatcgccttccagtac
ggcgtcactgacctgcgcggcatgctaaagaggctcaagggcatgaggcgcgatgagaag
aagagcacagcctttcagaagaagctggagccggcctaccaggtgagcaaaggccacaag
atccggctgaccgtggaactggctgaccatgacgctgaggtcaaatggctcaagaatggc
caggagatccagatgagcggcagcaagtacatctttgagtccatcggtgccaagcgtacc
ctgaccatcagccagtgctcattggcggacgacgcagcctaccagtgcgtggtgggtggc
gagaagtgtagcacggagctctttgtgaaagagccccctgtgctcatcacgcgccccttg
gaggaccagctggtgatggtggggcagcgggtggagtttgagtgtgaagtatcggaggag
ggggcgcaagtcaaatggctgaaggacggggtggagctgacccgggaggagaccttcaaa
taccggttcaagaaggacgggcagagacaccacctgatcatcaacgaggccatgctggag
gacgcggggcactatgcactgtgcactagcgggggccaggcgctggctgagctcattgtg
caggaaaagaagctggaggtgtaccagagcatcgcagacctgatggtgggcgcaaaggac
caggcggtgttcaaatgtgaggtctcagatgagaatgttcggggtgtgtggctgaagaat
gggaaggagctggtgcccgacagccgcataaaggtgtcccacatcgggcgggtccacaaa
ctgaccattgacgacgtcacacctgccgacgaggctgactacagctttgtgcccgagggc
ttcgcctgcaacctgtcagccaagctccacttcatggaggtcaagattgacttcgtaccc
aggcaggaacctcccaagatccacctggactgcccaggccgcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtccctatctctggggaccctgctcccact
gtgatctggcagaaggctatcacgcaggggaataaggccccagccaggccagccccagat
gccccagaggacacaggtgacagcgatgagtgggtgtttgacaagaagctgctgtgtgag
accgagggccgggtccgcgtggagaccaccaaggaccgcagcatcttcacggtcgagggg
gcagagaaggaagatgagggcgtctacacggtcacagtgaagaaccctgtgggcgaggac
caggtcaacctcacagtcaaggtcatcgacgtgccagacgcacctgcggcccccaagatc
agcaacgtgggagaggactcctgcacagtacagtgggagccgcctgcctacgatggcggg
cagcccatcctgggctacatcctggagcgcaagaagaagaagagctaccggtggatgcgg
ctgaacttcgacctgattcaggagctgagtcatgaagcgcggcgcatgatcgagggcgtg
gtgtacgagatgcgcgtctacgcggtcaacgccatcggcatgtccaggcccagccctgcc
tcccagcccttcatgcctatcggtccccccagcgaacccacccacctggcagtagaggac
gtctctgacaccacggtctccctcaagtggcggcccccagagcgcgtgggagcaggaggc
ctggatggctacagcgtggagtactgcccagagggctgctcagagtgggtggctgccctg
caggggctgacagagcacacatcgatactggtgaaggacctgcccacgggggcccggctg
cttttccgagtgcgggcacacaatatggcagggcctggagcccctgttaccaccacggag
ccggtgacagtgcaggagatcctgcaacggccacggcttcagctgcccaggcacctgcgc
cagaccattcagaagaaggtcggggagcctgtgaaccttctcatccctttccagggcaag
ccccggcctcaggtgacctggaccaaagaggggcagcccctggcaggcgaggaggtgagc
atccgcaacagccccacagacaccatcctgttcatccgggccgctcgccgcgtgcattca
ggcacttaccaggtgacggtgcgcattgagaacatggaggacaaggccacgctggtgctg
caggttgttgacaagccaagtcctccccaggatctccgggtgactgacgcctggggtctt
aatgtggctctggagtggaagccaccccaggatgtcggcaacacggagctctgggggtac
acagtgcagaaagccgacaagaagaccatggagtggttcaccgtcttggagcattaccgc
cgcacccactgcgtggtgccagagctcatcattggcaatggctactacttccgcgtcttc
agccagaatatggttggctttagtgacagagcggccaccaccaaggagcccgtctttatc
cccagaccaggcatcacctatgagccacccaactataaggccctggacttctccgaggcc
ccaagcttcacccagcccctggtgaaccgctcggtcatcgcgggctacactgctatgctc
tgctgtgctgtccggggtagccccaagcccaagatttcctggttcaagaatggcctggac
ctgggagaagacgcccgcttccgcatgttcagcaagcagggagtgttgactctggagatt
agaaagccctgcccctttgacgggggcatctatgtctgcagggccaccaacttacagggc
gaggcacggtgtgagtgccgcctggaggtgcgagtgcctcagtga

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