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
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H01216  Left ventricular noncompaction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    4607 (MYBPC3)
 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 THB V-set C2-set_2 PKD_3 Herpes_gE_N
Other DBs
NCBI-GeneID: 4607
NCBI-ProteinID: NP_000247
OMIM: 600958
HGNC: 7551
Ensembl: ENSG00000134571
UniProt: Q14896 A5YM48
Structure
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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