Human Gene MYH6 (ENST00000405093.9) from GENCODE V39
Description: Homo sapiens myosin heavy chain 6 (MYH6), mRNA. (from RefSeq NM_002471) RefSeq Summary (NM_002471): Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]. Gencode Transcript: ENST00000405093.9 Gencode Gene: ENSG00000197616.13 Transcript (Including UTRs) Position: hg38 chr14:23,381,987-23,408,273 Size: 26,287 Total Exon Count: 39 Strand: - Coding Region Position: hg38 chr14:23,382,040-23,407,223 Size: 25,184 Coding Exon Count: 37
ID:MYH6_HUMAN DESCRIPTION: RecName: Full=Myosin-6; AltName: Full=Myosin heavy chain 6; AltName: Full=Myosin heavy chain, cardiac muscle alpha isoform; Short=MyHC-alpha; FUNCTION: Muscle contraction. SUBUNIT: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. DOMAIN: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). DISEASE: Defects in MYH6 are the cause of atrial septal defect type 3 (ASD3) [MIM:614089]. ASD3 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. DISEASE: Defects in MYH6 are the cause of familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251]. It is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations,and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. DISEASE: Defects in MYH6 are the cause of cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]. It is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. DISEASE: Defects in MYH6 are the cause of susceptibility to sick sinus syndrome type 3 (SSS3) [MIM:614090]. The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. Note=MYH6 variations are associated with susceptibility to sick sinus syndrome (PubMed:21378987). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (PubMed:21378987). MISCELLANEOUS: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 1 myosin head-like domain. CAUTION: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6). SEQUENCE CAUTION: Sequence=CAA29120.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH6";
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.
ModBase Predicted Comparative 3D Structure on P13533
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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.