Human Gene MYBPC1 (uc010svs.2) Description and Page Index
  Description: Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 5, mRNA.
RefSeq Summary (NM_001254718): 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 skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr12:101,988,709-102,079,658 Size: 90,950 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr12:101,988,849-102,079,410 Size: 90,562 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:101,988,709-102,079,658)mRNA (may differ from genome)Protein (1173 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHuman Cortex Gene ExpressionLynxMGIOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7EWS6_HUMAN
DESCRIPTION: SubName: Full=Myosin-binding protein C, slow-type;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYBPC1
CDC HuGE Published Literature: MYBPC1

-  MalaCards Disease Associations
  MalaCards Gene Search: MYBPC1
Diseases sorted by gene-association score: arthrogryposis, distal, type 1b* (1300), lethal congenital contracture syndrome 4* (1019), arthrogryposis multiplex congenita, distal, type 1* (530), lethal congenital contractural syndrome 3* (247), distal arthrogryposis (16), cardiomyopathy, hypertrophic, 4 (8), clubfoot (7), cardiomyopathy, familial hypertrophic (2), dilated cardiomyopathy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1743.74 RPKM in Muscle - Skeletal
Total median expression: 1872.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.70140-0.241 Picture PostScript Text
3' UTR -59.40248-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

ModBase Predicted Comparative 3D Structure on E7EWS6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK296681 - Homo sapiens cDNA FLJ60643 complete cds, highly similar to Myosin-binding protein C, slow-type.
BC065720 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone IMAGE:4270753), partial cds.
BC015187 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone IMAGE:4244569).
AK303401 - Homo sapiens cDNA FLJ61732 complete cds, highly similar to Myosin-binding protein C, slow-type.
AK295727 - Homo sapiens cDNA FLJ61277 complete cds, highly similar to Myosin-binding protein C, slow-type.
AK056587 - Homo sapiens cDNA FLJ32025 fis, clone NTONG1000213, highly similar to MYOSIN-BINDING PROTEIN C, SLOW-TYPE.
AK292976 - Homo sapiens cDNA FLJ78685 complete cds, highly similar to Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 2, mRNA.
BC030980 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone IMAGE:4290577), with apparent retained intron.
X66276 - H.sapiens mRNA for skeletal muscle C-protein.
BC092418 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:102955 IMAGE:30529254), complete cds.
X73114 - H.sapiens mRNA for slow MyBP-C.
BC143502 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:177027 IMAGE:9052010), complete cds.
BC117217 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:150826 IMAGE:40125768), complete cds.
BC143495 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:177020 IMAGE:9052003), complete cds.
BC143503 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:177028 IMAGE:9052011), complete cds.
BC143504 - Homo sapiens myosin binding protein C, slow type, mRNA (cDNA clone MGC:177029 IMAGE:9052012), complete cds.
AL832456 - Homo sapiens mRNA; cDNA DKFZp451M091 (from clone DKFZp451M091).
AL832354 - Homo sapiens mRNA; cDNA DKFZp451E186 (from clone DKFZp451E186).
AL832000 - Homo sapiens mRNA; cDNA DKFZp451L023 (from clone DKFZp451L023).
AL831993 - Homo sapiens mRNA; cDNA DKFZp451I083 (from clone DKFZp451I083).
AL832350 - Homo sapiens mRNA; cDNA DKFZp451B236 (from clone DKFZp451B236).
AL832332 - Homo sapiens mRNA; cDNA DKFZp451H115 (from clone DKFZp451H115).
AL834249 - Homo sapiens mRNA; cDNA DKFZp451F042 (from clone DKFZp451F042).
BX649073 - Homo sapiens mRNA; cDNA DKFZp779M1050 (from clone DKFZp779M1050).
JD291143 - Sequence 272167 from Patent EP1572962.
AM392734 - Synthetic construct Homo sapiens clone IMAGE:100001793 for hypothetical protein (MYBPC1 gene).
AB385254 - Synthetic construct DNA, clone: pF1KB9501, Homo sapiens MYBPC1 gene for myosin-binding protein C, complete cds, without stop codon, in Flexi system.
EU832001 - Synthetic construct Homo sapiens clone HAIB:100067030; DKFZo004A0724 myosin binding protein C, slow type protein (MYBPC1) gene, encodes complete protein.
EU831907 - Synthetic construct Homo sapiens clone HAIB:100066936; DKFZo008A0723 myosin binding protein C, slow type protein (MYBPC1) gene, encodes complete protein.
AK057284 - Homo sapiens cDNA FLJ32722 fis, clone TESTI2000883, highly similar to MYOSIN-BINDING PROTEIN C, SLOW-TYPE.
JD212027 - Sequence 193051 from Patent EP1572962.
JD419657 - Sequence 400681 from Patent EP1572962.
JD273843 - Sequence 254867 from Patent EP1572962.
JD075683 - Sequence 56707 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E7EWS6, E7EWS6_HUMAN, NM_001254718, NP_001241647
UCSC ID: uc010svs.2
RefSeq Accession: NM_001254718
Protein: E7EWS6 CCDS: CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001254718.1
exon count: 30CDS single in 3' UTR: no RNA size: 3930
ORF size: 3522CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7244.00frame shift in genome: no % Coverage: 99.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.