MYH3 Knowpia

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
Gene location (Human)
Chr.	Chromosome 17 (human)
End	10,657,309 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	66,993,117 bp
RNA expression pattern
	Top expressed in
	sperm; ; gastrocnemius muscle; ; seminal vesicula; ; sural nerve; ; tibialis anterior muscle; ; right lobe of liver; ; popliteal artery; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; left uterine tube;
	Top expressed in
	extraocular muscle; ; epidermis; ; upper arm; ; synovial joint; ; atrium; ; ankle joint; ; autopod region; ; hand; ; triceps surae; ; neural tube;
	More reference expression data
	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
	4621
	17883
	ENSG00000109063
	ENSMUSG00000020908
	P11055
	P13541
	NM_002470
	NM_001099635
	NP_002461
	NP_001093105
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function edit

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 edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000109063 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020908 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
^ 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 edit

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000109063 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid2726495-5] 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.

[entrez-6] "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".

[pmid21531865-7] 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.

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Summary

Function edit

References edit

Further reading edit