MYH3

MYH3
Identifiers
Aliases	MYH3 , HEMHC, MYHC-EMB, MYHSE1, SMHCE, DA2A, DA2B, DA8, myosin, heavy chain 3, skeletal muscle, embryonic, myosin heavy chain 3, CPSKF1A, DA2B3, CPSKF1B, CPSFS1B, CPSFS1A
External IDs	OMIM: 160720; MGI: 1339709; HomoloGene: 20553; GeneCards: MYH3; OMA:MYH3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.1 Start 10,628,526 bp [1] End 10,657,309 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B3|11 40.59 cM Start 66,969,126 bp [2] End 66,993,117 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm muscle of thigh Skeletal muscle tissue of rectus abdominis gastrocnemius muscle testicle seminal vesicula sural nerve glutes Top expressed in extraocular muscle epidermis upper arm muscle of arm mesenchyme synovial joint atrium ankle joint autopod region hand More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calmodulin binding microfilament motor activity actin binding cytoskeletal motor activity ATP binding myosin phosphatase activity actin filament binding Cellular component cytoplasm cytosol sarcomere myofibril myosin filament muscle myosin complex extracellular exosome myosin complex contractile fiber Biological process skeletal muscle contraction muscle organ development actin filament-based movement ATP metabolic process embryonic limb morphogenesis muscle filament sliding sarcomere organization face morphogenesis protein dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4621 17883 Ensembl ENSG00000109063 ENSMUSG00000020908 UniProt P11055 P13541 RefSeq (mRNA) NM_002470 NM_001099635 RefSeq (protein) NP_002461 NP_001093105 Location (UCSC) Chr 17: 10.63 – 10.66 Mb Chr 11: 66.97 – 66.99 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin-3 is a protein that in humans is encoded by the MYH3 gene. ^{[5] [6]}

Function

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, ^[7] Freeman–Sheldon syndrome and Sheldon–Hall syndrome. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000109063 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020908 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S (May 1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA". Nucleic Acids Research. 17 (9): 3591–2. doi:10.1093/nar/17.9.3591. PMC   317805 . PMID   2726495.
6. "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
7. Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB (Jun 2011). "Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1". The Journal of Bone and Joint Surgery. American Volume. 93 (11): 1045–50. doi:10.2106/JBJS.J.02004. PMC   3102311 . PMID   21531865.

Further reading

• Bober E, Buchberger-Seidl A, Braun T, Singh S, Goedde HW, Arnold HH (Apr 1990). "Identification of three developmentally controlled isoforms of human myosin heavy chains". European Journal of Biochemistry. 189 (1): 55–65. doi: 10.1111/j.1432-1033.1990.tb15459.x . PMID   1691980.
• Karsch-Mizrachi I, Travis M, Blau H, Leinwand LA (Aug 1989). "Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene". Nucleic Acids Research. 17 (15): 6167–79. doi:10.1093/nar/17.15.6167. PMC   318269 . PMID   2771643.
• Eller M, Stedman HH, Sylvester JE, Fertels SH, Wu QL, Raychowdhury MK, Rubinstein NA, Kelly AM, Sarkar S (Oct 1989). "Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene". FEBS Letters. 256 (1–2): 21–8. doi: 10.1016/0014-5793(89)81710-7 . PMID   2806546. S2CID   12047829.
• Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (Jul 2004). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID   15203218.
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DS, Pang CP (Mar 2006). "Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes". Physiological Genomics. 25 (1): 9–15. doi:10.1152/physiolgenomics.00121.2005. PMID   16368877.
• Hundley AF, Yuan L, Visco AG (May 2006). "Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse". American Journal of Obstetrics and Gynecology. 194 (5): 1404–10. doi:10.1016/j.ajog.2006.01.049. PMID   16579921.
• Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ (May 2006). "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome". Nature Genetics. 38 (5): 561–5. doi:10.1038/ng1775. PMID   16642020. S2CID   8226091.