MYH3

Protein-coding gene in the species Homo sapiens

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]
Band	17p13.1	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]
Band	11 B3\|11 40.59 cM	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

^ ^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.

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.

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3