MYBPC1 (myosin binding protein C1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4604 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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MYBPC1 |
SynonymsGene synonyms aliases
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CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q23.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs1565943228 |
T>G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1593846841 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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 |
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Hypotonia |
Neonatal Hypotonia |
rs141138948, rs397517172, rs869312824, rs1583169151 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital camptodactyly |
Congenital Camptodactyly |
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Congenital clubfoot |
Congenital clubfoot |
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Digitotalar dysmorphism |
Digitotalar Dysmorphism |
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20045868 |
Laryngeal web |
Laryngeal web |
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Laryngomalacia |
Laryngomalacia |
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Microstomia |
Microstomia |
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Non-lethal arthrogryposis multiplex congenita syndrome |
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
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Talipes |
Talipes |
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Vertical talus |
Vertical Talus |
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