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MYBPC1 (myosin binding protein C1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4604
Gene nameGene Name - the full gene name approved by the HGNC.
Myosin binding protein C1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MYBPC1
SynonymsGene synonyms aliases
CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skel
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199628742 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs387906657 T>C Pathogenic Missense variant, coding sequence variant
rs397515422 C>T Pathogenic Stop gained, coding sequence variant
rs564856283 G>A,C Pathogenic Coding sequence variant, missense variant
rs1421405659 T>C,G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028918 hsa-miR-26b-5p Microarray 19088304
MIRT038283 hsa-miR-130b-5p CLASH 23622248
MIRT610065 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT610064 hsa-miR-1236-3p HITS-CLIP 23824327
MIRT610063 hsa-miR-1285-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 23414517
GO:0005829 Component Cytosol TAS
GO:0007155 Process Cell adhesion IEA
GO:0008307 Function Structural constituent of muscle TAS 8375400
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q00872
Protein name Myosin-binding protein C, slow-type (Slow MyBP-C) (C-protein, skeletal muscle slow isoform)
Protein function Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31025394, PubMed:31264822). In vitro, binds to native thin filaments and
PDB 1X44 , 2DAV , 2YUV , 2YUW , 2YUX , 2YUZ , 2YXM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set
59 159
Immunoglobulin I-set domain
Domain
PF18362 THB
209 242
Tri-helix bundle domain
Domain
PF07679 I-set
253 337
Immunoglobulin I-set domain
Domain
PF07679 I-set
342 431
Immunoglobulin I-set domain
Domain
PF07679 I-set
433 507
Immunoglobulin I-set domain
Domain
PF07679 I-set
530 616
Immunoglobulin I-set domain
Domain
PF00041 fn3
621 706
Fibronectin type III domain
Domain
PF00041 fn3
719 822
Fibronectin type III domain
Domain
PF07679 I-set
839 928
Immunoglobulin I-set domain
Domain
PF00041 fn3
933 1016
Fibronectin type III domain
Domain
PF07679 I-set
1047 1136
Immunoglobulin I-set domain
Domain
Sequence
MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILF
IEKPQGGTVKVGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHS
RVYTFEMQIIKAKDNFAGNYRCEVTYKDKFDSCSFDLEV
HESTGTTPNIDIRSAFKRSGE
GQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKIAFQYGITDLRGMLKR
LK
RMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIF
EHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFV
REPPIMVTKQLEDTTAYCGERVE
LECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGG
QSSAKLSVDLK
PLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVV
HKGRIHKLVIANALTEDEGDYVFAPDA
YNVTLPAKVHVIDPPKIILDGLDADNTVTVIAG
NKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHIN
LKNEAGEAHASIKVKV
VDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKK
KQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAIGISKPS
MPSRPFVPLAVTSP
PTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDENGEAAYDLPAE
DWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPK
YYSQPILVKEIIEPPKIR
IPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRK
AERSHSGKYDLQVKVDKFVETASIDIQI
IDRPGPPQIVKIEDVWGENVALTWTPPKDDGN
AAITGYTIQKADKKSMEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSED
ATMT
KESAVIARDGKIYKNPVYEDFDFSEAPMFTQPLVNTYAIAGYNATLNCSVRGNPKPKITW
MKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDLGTVEIECKLEV
KVIA
Q
Sequence length 1141
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cytoskeleton in muscle cells   Striated Muscle Contraction
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Distal arthrogryposis ARTHROGRYPOSIS, DISTAL, TYPE 1, Distal arthrogryposis syndrome, ARTHROGRYPOSIS, DISTAL, TYPE 1B, Distal arthrogryposis type 1 rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618 20045868, 22610851, 26661508, 22610851, 20045868
Lethal congenital contracture syndrome LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, Lethal congenital contracture syndrome type 3 rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923, rs779432560, rs539703340, rs886041057, rs368085516, rs750803388, rs775011495, rs144659252, rs1595795343, rs1595795307, rs755420151 22610851, 26661508, 22610851, 20045868
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Unknown
Disease name Disease term dbSNP ID References
Congenital camptodactyly Congenital Camptodactyly
Congenital clubfoot Congenital clubfoot
Digitotalar dysmorphism Digitotalar Dysmorphism 20045868
Laryngeal web Laryngeal web

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