KEGG   Homo sapiens (human): 4604
Entry
4604              CDS       T01001                                 
Symbol
MYBPC1, CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
Name
(RefSeq) myosin binding protein C1
  KO
K12557  myosin-binding protein C, slow-type
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01817  Myosin thick filament
Disease
H00811  Distal arthrogryposis
H00865  Lethal congenital contractural syndrome
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    4604 (MYBPC1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4604 (MYBPC1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     4604 (MYBPC1)
SSDB
Motif
Pfam: I-set Ig_3 fn3 ig Ig_2 THB Ig_DSCAM-DSCAML_C V-set C2-set_2 Pur_ac_phosph_N Ig_CYK3_C
Other DBs
NCBI-GeneID: 4604
NCBI-ProteinID: NP_996556
OMIM: 160794
HGNC: 7549
Ensembl: ENSG00000196091
UniProt: Q00872 Q86TA8 A8KAB1
Structure
LinkDB
Position
12:101594971..101695841
AA seq 1141 aa
MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILF
IEKPQGGTVKVGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHS
RVYTFEMQIIKAKDNFAGNYRCEVTYKDKFDSCSFDLEVHESTGTTPNIDIRSAFKRSGE
GQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKIAFQYGITDLRGMLKR
LKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIF
EHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLEDTTAYCGERVE
LECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGG
QSSAKLSVDLKPLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVV
HKGRIHKLVIANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKIILDGLDADNTVTVIAG
NKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHIN
LKNEAGEAHASIKVKVVDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKK
KQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAIGISKPSMPSRPFVPLAVTSP
PTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDENGEAAYDLPAE
DWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYSQPILVKEIIEPPKIR
IPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRK
AERSHSGKYDLQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGN
AAITGYTIQKADKKSMEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMT
KESAVIARDGKIYKNPVYEDFDFSEAPMFTQPLVNTYAIAGYNATLNCSVRGNPKPKITW
MKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDLGTVEIECKLEVKVIA
Q
NT seq 3426 nt   +upstreamnt  +downstreamnt
atgccagaacccactaagaaagaggaaaatgaagtgccagccccagccccacccccggaa
gaaccaagtaaagagaaggaggccggaactacaccagcaaaagactggacccttgtcgaa
actcctcctggggaggaacaagccaagcagaatgccaactcccagctgtccatcttgttc
attgaaaaacctcaaggaggaacagtgaaagttggtgaagatatcaccttcatagccaaa
gtcaaggctgaagatcttctgagaaaacccactatcaaatggttcaaaggaaaatggatg
gacctggccagcaaagccgggaagcaccttcagctgaaggaaacctttgagaggcacagt
cgggtgtacacatttgagatgcagatcatcaaggccaaagataactttgcaggaaattac
agatgcgaggtcacctataaggataagtttgacagctgttcatttgatcttgaagtgcac
gaatctactgggactactccaaacattgacatcagatctgctttcaagagaagtggagaa
ggtcaagaggatgcaggagaacttgactttagtggtctcctgaaacgtagggaggtgaag
cagcaggaggaagaaccccaggtggacgtatgggagttgctgaagaacgcgaaacccagt
gagtacgagaagatcgccttccagtatggaatcaccgacctgcgcggcatgctcaagcga
ctcaagcgcatgcgcagagaggagaagaagagcgcagcttttgcaaaaattcttgatcct
gcatatcaggttgacaaaggaggcagagtgaggtttgttgtggagctggcagatccaaag
ttggaggtgaaatggtataaaaatggtcaagaaattcgacccagtaccaaatacatcttt
gaacacaaaggatgccagagaatcctgtttatcaataactgtcagatgacagatgattca
gagtattatgtgacagccggtgatgagaaatgttccactgagctcttcgtaagagagcct
ccaattatggtgaccaaacagctggaagatacaactgcttattgtggggagagagtggaa
ttagaatgtgaggtgtctgaagatgatgccaatgtaaaatggtttaagaatggtgaagag
attatccctggtccaaaatcaagataccgaattagagttgagggtaaaaaacacatcttg
atcatagagggagcaacaaaggctgatgctgcagaatattcagtaatgacaacaggagga
caatcatctgctaaacttagtgttgacttgaaacctctgaagattttgacacctctgact
gatcagactgtaaatcttggaaaagaaatctgcctgaagtgtgaaatctctgaaaacata
ccaggaaaatggactaaaaatggcctacctgttcaggagagtgaccgtctaaaggtggtt
cacaagggaaggatccacaagttagtgatagccaatgccctcactgaagatgaaggtgat
tatgtatttgcacctgatgcctacaatgttactctgcctgccaaagttcatgttattgat
cctcctaagatcatcctggatggtcttgatgctgacaacacagtgacagtgattgcagga
aacaagcttcgtcttgagatccccatcagcggagaaccacctcctaaagccatgtggagc
cggggagataaggctattatggaaggcagtggccggataagaacagaatcttaccctgat
agcagcactctggtcattgatatagctgaaagagatgactctggtgtttaccacatcaat
ctgaaaaacgaagctggagaggcacatgcaagcatcaaggttaaagttgtggacttccct
gatcctccagtggcaccgactgtgacagaggtgggagatgactggtgtatcatgaactgg
gagcctcctgcctacgacggaggctctccaatcctaggatattttattgagaggaagaag
aaacaaagctccaggtggatgaggctgaattttgatctctgcaaagaaacaacttttgag
cccaagaagatgattgaaggtgtggcctatgaggtccgcatctttgcagtcaatgccatt
ggcatctccaagcccagtatgccctccaggccttttgttcctttggctgtaacaagccct
cctactcttctgactgtggactctgtcactgacacgactgtcacgatgaggtggcgcccc
ccagaccacattggtgcagcaggtttagatggctatgtgctagagtattgctttgaagga
agtacatcagcaaaacagtctgatgaaaatggggaggctgcctatgatctgccagctgag
gactggatagttgcaaacaaagatctgattgacaagacgaagttcaccatcacaggtctg
ccaacagatgcaaagatctttgtgcgtgtgaaggctgttaatgcagctggtgccagcgag
cccaagtactattctcagcccattctcgtgaaggaaatcatagaacctccaaagattcgc
attccaagacacctgaagcaaacctatatccgcagagttggagaagctgtcaatctggtt
atacctttccagggaaaaccaagaccagaattaacttggaagaaggatggtgcagaaatt
gataagaatcaaataaacattcgcaactctgagactgatacaatcatatttattagaaaa
gcagagaggagccactctgggaaatatgatctgcaagtcaaagtggacaaattcgtggag
accgcatcaattgacatccagatcattgaccgtccaggtccaccccaaattgtgaagatt
gaggatgtctggggagaaaatgtcgctctcacatggactccaccaaaggatgatggaaat
gctgctatcacaggctataccattcagaaggctgacaagaagagcatggaatggtttact
gtcattgagcattatcatcgaaccagtgccaccattactgaattggtcatagggaatgaa
tattacttccgggtcttttctgaaaacatgtgtggcctcagtgaggatgccaccatgact
aaagagagtgcagtgatcgccagggatggtaaaatctacaaaaatccagtgtatgaagac
tttgatttctcagaggcacccatgtttactcagcctttggttaacacctatgccatagct
ggttacaatgccaccctaaactgcagtgtgagaggaaatcctaagcctaaaataacctgg
atgaaaaacaaagttgctattgtggatgatccaagatacaggatgttcagcaaccaggga
gtctgtaccctggaaattcgcaagcccagcccctatgatggaggcacttactgctgcaaa
gcagtcaatgaccttgggacagtggagattgaatgcaaactggaggtgaaagtcattgca
caataa

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