KEGG   Homo sapiens (human): 4604
Entry
4604              CDS       T01001                                 
Symbol
MYBPC1, 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
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 V-set C2-set_2 Pur_ac_phosph_N
Other DBs
NCBI-GeneID: 4604
NCBI-ProteinID: NP_996556
OMIM: 160794
HGNC: 7549
Ensembl: ENSG00000196091
UniProt: Q00872 Q86TA8 A8KAB1
Structure
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (49)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (45)   
DNA sequence (115)   
   RefSeq(nuc) (45)   
   GenBank (35)   
   EMBL (35)   
3D Structure (7)   
   PDB (7)   
Protein domain (9)   
   Pfam (9)   
All databases (201)   

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