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
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
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.
SCOP Domains: 48726 - Immunoglobulin 49265 - Fibronectin type III
ModBase Predicted Comparative 3D Structure on E7EWS6
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.