Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4604
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin binding protein C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYBPC1
Synonyms (NCBI Gene) Gene synonyms aliases
CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMYO16, LCCS4
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
160794 7549 ENSG00000196091
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytoskeleton in muscle cells   Striated Muscle Contraction
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
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
View all (41 more)
20045868, 22610851, 26661508
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
View all (10 more)
22610851, 26661508, 20045868
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Unknown
Disease term Disease name Evidence References Source
Congenital contracture lethal congenital contracture syndrome 3 GenCC
Digitotalar Dysmorphism digitotalar dysmorphism GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Arnold Chiari Malformation Associate 31227808
Arthrogryposis Associate 25679999, 31264822, 38438057
Arthrogryposis multiplex congenita distal type 1 Associate 20045868, 38438057
Arthrogryposis multiplex congenita distal type 2 Associate 25679999
Breast Neoplasms Associate 35132338
Cardiomyopathy Hypertrophic Associate 20045868
Cognition Disorders Associate 21061152
Contracture Associate 31264822
Encephalitis Associate 21061152
Inflammation Associate 21061152