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Protein

Myosin-3

Gene

MYH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Muscle contraction.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-3 (MYO3).Curated
Variants Ala-1622 and Val-1637 have been originally reported as DA2B pathogenic mutations (PubMed:16642020). These variants are now thought to be polymorphisms on the basis of additional family information and frequencies in large databases of control populations (PubMed:25957469).1 Publication1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi179 – 186ATPSequence analysis8

GO - Molecular functioni

  • actin filament binding Source: BHF-UCL
  • ATPase activity, coupled Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • calmodulin binding Source: BHF-UCL
  • microfilament motor activity Source: BHF-UCL
  • microtubule binding Source: InterPro
  • microtubule motor activity Source: InterPro
  • myosin phosphatase activity Source: Reactome

GO - Biological processi

  • actin filament-based movement Source: UniProtKB
  • ATP metabolic process Source: BHF-UCL
  • embryonic limb morphogenesis Source: BHF-UCL
  • face morphogenesis Source: BHF-UCL
  • microtubule-based movement Source: InterPro
  • muscle filament sliding Source: Reactome
  • muscle organ development Source: ProtInc
  • sarcomere organization Source: BHF-UCL
  • skeletal muscle contraction Source: BHF-UCL

Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Muscle protein, Myosin
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP11055

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-3
Alternative name(s):
Muscle embryonic myosin heavy chain
Myosin heavy chain 3
Myosin heavy chain, fast skeletal muscle, embryonic
SMHCE
Gene namesi
Name:MYH3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000109063.14
HGNCiHGNC:7573 MYH3
MIMi160720 gene
neXtProtiNX_P11055

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 2A (DA2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin.
See also OMIM:193700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030374498E → G in DA2A. 1 Publication1
Natural variantiVAR_030376583Y → S in DA2A. 1 Publication1
Natural variantiVAR_030377672R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar.1
Natural variantiVAR_030378672R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar.1
Natural variantiVAR_030380825V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar.1
Arthrogryposis, distal, 2B (DA2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
See also OMIM:601680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030371261S → F in DA2B. 1 Publication1
Natural variantiVAR_030372292S → C in DA2B. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_030375517D → Y in DA2B. 1 Publication1
Natural variantiVAR_030379769G → V in DA2B. 1 Publication1
Natural variantiVAR_030381838K → E in DA2B. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B. 1 Publication1
Arthrogryposis, distal, 8 (DA8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease.
See also OMIM:178110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074668243Missing in DA8. 1 Publication1
Natural variantiVAR_0746691072N → NN in DA8. 1 Publication1
Natural variantiVAR_0746701075Q → P in DA8. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4621
MalaCardsiMYH3
MIMi178110 phenotype
193700 phenotype
601680 phenotype
OpenTargetsiENSG00000109063
Orphaneti1146 Digitotalar dysmorphism
2053 Freeman-Sheldon syndrome
1147 Sheldon-Hall syndrome
PharmGKBiPA31370

Polymorphism and mutation databases

BioMutaiMYH3
DMDMi251757455

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001233941 – 1940Myosin-3Add BLAST1940

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei130N6,N6,N6-trimethyllysineSequence analysis1

Keywords - PTMi

Methylation

Proteomic databases

EPDiP11055
MaxQBiP11055
PaxDbiP11055
PeptideAtlasiP11055
PRIDEiP11055

PTM databases

iPTMnetiP11055
PhosphoSitePlusiP11055

Expressioni

Tissue specificityi

Expressed in fetal bone, thymus, placenta, heart, brain, and liver.1 Publication

Developmental stagei

Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle.

Gene expression databases

BgeeiENSG00000109063
CleanExiHS_MYH3
GenevisibleiP11055 HS

Organism-specific databases

HPAiHPA021808

Interactioni

Subunit structurei

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).

GO - Molecular functioni

  • actin filament binding Source: BHF-UCL
  • calmodulin binding Source: BHF-UCL
  • microtubule binding Source: InterPro

Protein-protein interaction databases

BioGridi110706, 13 interactors
IntActiP11055, 10 interactors
MINTiP11055
STRINGi9606.ENSP00000226209

Structurei

3D structure databases

ProteinModelPortaliP11055
SMRiP11055
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 82Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST50
Domaini86 – 779Myosin motorPROSITE-ProRule annotationAdd BLAST694
Domaini782 – 811IQPROSITE-ProRule annotationAdd BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni656 – 678Actin-bindingAdd BLAST23
Regioni758 – 772Actin-bindingAdd BLAST15

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili840 – 1933Sequence analysisAdd BLAST1094

Domaini

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.
Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).Curated

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00760000118919
HOGENOMiHOG000173959
HOVERGENiHBG004704
InParanoidiP11055
KOiK10352
OMAiLGLQFQK
OrthoDBiEOG091G07UM
PhylomeDBiP11055
TreeFamiTF314375

Family and domain databases

CDDicd14913 MYSc_Myh3, 1 hit
Gene3Di2.30.30.360, 1 hit
3.40.850.10, 3 hits
4.10.270.10, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR027401 Myosin_IQ_contain_sf
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR002928 Myosin_tail
IPR036000 MYSc_Myh3
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00063 Myosin_head, 1 hit
PF02736 Myosin_N, 1 hit
PF01576 Myosin_tail_1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

Sequencei

Sequence statusi: Complete.

P11055-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSDTEMEVF GIAAPFLRKS EKERIEAQNQ PFDAKTYCFV VDSKEEYAKG
60 70 80 90 100
KIKSSQDGKV TVETEDNRTL VVKPEDVYAM NPPKFDRIED MAMLTHLNEP
110 120 130 140 150
AVLYNLKDRY TSWMIYTYSG LFCVTVNPYK WLPVYNPEVV EGYRGKKRQE
160 170 180 190 200
APPHIFSISD NAYQFMLTDR ENQSILITGE SGAGKTVNTK RVIQYFATIA
210 220 230 240 250
ATGDLAKKKD SKMKGTLEDQ IISANPLLEA FGNAKTVRND NSSRFGKFIR
260 270 280 290 300
IHFGTTGKLA SADIETYLLE KSRVTFQLKA ERSYHIFYQI LSNKKPELIE
310 320 330 340 350
LLLITTNPYD YPFISQGEIL VASIDDAEEL LATDSAIDIL GFTPEEKSGL
360 370 380 390 400
YKLTGAVMHY GNMKFKQKQR EEQAEPDGTE VADKTAYLMG LNSSDLLKAL
410 420 430 440 450
CFPRVKVGNE YVTKGQTVDQ VHHAVNALSK SVYEKLFLWM VTRINQQLDT
460 470 480 490 500
KLPRQHFIGV LDIAGFEIFE YNSLEQLCIN FTNEKLQQFF NHHMFVLEQE
510 520 530 540 550
EYKKEGIEWT FIDFGMDLAA CIELIEKPMG IFSILEEECM FPKATDTSFK
560 570 580 590 600
NKLYDQHLGK SNNFQKPKVV KGRAEAHFSL IHYAGTVDYS VSGWLEKNKD
610 620 630 640 650
PLNETVVGLY QKSSNRLLAH LYATFATADA DSGKKKVAKK KGSSFQTVSA
660 670 680 690 700
LFRENLNKLM SNLRTTHPHF VRCIIPNETK TPGAMEHSLV LHQLRCNGVL
710 720 730 740 750
EGIRICRKGF PNRILYGDFK QRYRVLNASA IPEGQFIDSK KACEKLLASI
760 770 780 790 800
DIDHTQYKFG HTKVFFKAGL LGTLEEMRDD RLAKLITRTQ AVCRGFLMRV
810 820 830 840 850
EFQKMVQRRE SIFCIQYNIR SFMNVKHWPW MKLFFKIKPL LKSAETEKEM
860 870 880 890 900
ATMKEEFQKT KDELAKSEAK RKELEEKLVT LVQEKNDLQL QVQAESENLL
910 920 930 940 950
DAEERCDQLI KAKFQLEAKI KEVTERAEDE EEINAELTAK KRKLEDECSE
960 970 980 990 1000
LKKDIDDLEL TLAKVEKEKH ATENKVKNLT EELSGLDETI AKLTREKKAL
1010 1020 1030 1040 1050
QEAHQQALDD LQAEEDKVNS LNKTKSKLEQ QVEDLESSLE QEKKLRVDLE
1060 1070 1080 1090 1100
RNKRKLEGDL KLAQESILDL ENDKQQLDER LKKKDFEYCQ LQSKVEDEQT
1110 1120 1130 1140 1150
LGLQFQKKIK ELQARIEELE EEIEAERATR AKTEKQRSDY ARELEELSER
1160 1170 1180 1190 1200
LEEAGGVTST QIELNKKREA EFLKLRRDLE EATLQHEAMV AALRKKHADS
1210 1220 1230 1240 1250
VAELGEQIDN LQRVKQKLEK EKSEFKLEID DLSSSMESVS KSKANLEKIC
1260 1270 1280 1290 1300
RTLEDQLSEA RGKNEEIQRS LSELTTQKSR LQTEAGELSR QLEEKESIVS
1310 1320 1330 1340 1350
QLSRSKQAFT QQTEELKRQL EEENKAKNAL AHALQSSRHD CDLLREQYEE
1360 1370 1380 1390 1400
EQEGKAELQR ALSKANSEVA QWRTKYETDA IQRTEELEEA KKKLAQRLQD
1410 1420 1430 1440 1450
SEEQVEAVNA KCASLEKTKQ RLQGEVEDLM VDVERANSLA AALDKKQRNF
1460 1470 1480 1490 1500
DKVLAEWKTK CEESQAELEA SLKESRSLST ELFKLKNAYE EALDQLETVK
1510 1520 1530 1540 1550
RENKNLEQEI ADLTEQIAEN GKTIHELEKS RKQIELEKAD IQLALEEAEA
1560 1570 1580 1590 1600
ALEHEEAKIL RIQLELTQVK SEIDRKIAEK DEEIEQLKRN YQRTVETMQS
1610 1620 1630 1640 1650
ALDAEVRSRN EAIRLKKKME GDLNEIEIQL SHANRQAAET LKHLRSVQGQ
1660 1670 1680 1690 1700
LKDTQLHLDD ALRGQEDLKE QLAIVERRAN LLQAEVEELR ATLEQTERAR
1710 1720 1730 1740 1750
KLAEQELLDS NERVQLLHTQ NTSLIHTKKK LETDLMQLQS EVEDASRDAR
1760 1770 1780 1790 1800
NAEEKAKKAI TDAAMMAEEL KKEQDTSAHL ERMKKNLEQT VKDLQHRLDE
1810 1820 1830 1840 1850
AEQLALKGGK KQIQKLETRI RELEFELEGE QKKNTESVKG LRKYERRVKE
1860 1870 1880 1890 1900
LTYQSEEDRK NVLRLQDLVD KLQVKVKSYK RQAEEADEQA NAHLTKFRKA
1910 1920 1930 1940
QHELEEAEER ADIAESQVNK LRAKTRDFTS SRMVVHESEE
Length:1,940
Mass (Da):223,905
Last modified:July 7, 2009 - v3
Checksum:iB7D6AF219E88E5C8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti327A → R in CAA32167 (PubMed:2726495).Curated1
Sequence conflicti732P → L in CAA32167 (PubMed:2726495).Curated1
Sequence conflicti1331A → G in CAA35942 (PubMed:1691980).Curated1
Sequence conflicti1391 – 1392KK → QE in CAA32167 (PubMed:2726495).Curated2
Sequence conflicti1391 – 1392KK → QE in CAA31492 (PubMed:2806546).Curated2
Sequence conflicti1608 – 1609SR → RA in CAA35942 (PubMed:1691980).Curated2
Sequence conflicti1663 – 1664RG → QT in CAA31492 (PubMed:2806546).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030370178T → I in DA2A and DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_074668243Missing in DA8. 1 Publication1
Natural variantiVAR_030371261S → F in DA2B. 1 Publication1
Natural variantiVAR_030372292S → C in DA2B. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_030374498E → G in DA2A. 1 Publication1
Natural variantiVAR_030375517D → Y in DA2B. 1 Publication1
Natural variantiVAR_030376583Y → S in DA2A. 1 Publication1
Natural variantiVAR_030377672R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar.1
Natural variantiVAR_030378672R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar.1
Natural variantiVAR_030379769G → V in DA2B. 1 Publication1
Natural variantiVAR_030380825V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar.1
Natural variantiVAR_030381838K → E in DA2B. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B. 1 Publication1
Natural variantiVAR_0561731003A → V. Corresponds to variant dbSNP:rs34088014EnsemblClinVar.1
Natural variantiVAR_0746691072N → NN in DA8. 1 Publication1
Natural variantiVAR_0746701075Q → P in DA8. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar.1
Natural variantiVAR_0301961137R → C. Corresponds to variant dbSNP:rs12941197EnsemblClinVar.1
Natural variantiVAR_0301971192A → T4 PublicationsCorresponds to variant dbSNP:rs2285477EnsemblClinVar.1
Natural variantiVAR_0561741313T → I. Corresponds to variant dbSNP:rs35230241EnsemblClinVar.1
Natural variantiVAR_0303831622D → A Polymorphism; originally found in DA2B patients. 1 Publication1 Publication1
Natural variantiVAR_0303841637A → V Polymorphism; originally found in DA2B patients. 1 Publication1 PublicationCorresponds to variant dbSNP:rs34165480EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X13988 mRNA Translation: CAA32167.1
AC002347 Genomic DNA No translation available.
X13100 mRNA Translation: CAA31492.1
X51593 mRNA Translation: CAA35942.1
X15696 mRNA Translation: CAA33731.1
CCDSiCCDS11157.1
PIRiS04090
RefSeqiNP_002461.2, NM_002470.3
XP_011522172.1, XM_011523870.2
XP_011522173.1, XM_011523871.2
UniGeneiHs.440895

Genome annotation databases

EnsembliENST00000583535; ENSP00000464317; ENSG00000109063
GeneIDi4621
KEGGihsa:4621
UCSCiuc002gmq.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMYH3_HUMAN
AccessioniPrimary (citable) accession number: P11055
Secondary accession number(s): Q15492
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 7, 2009
Last modified: May 23, 2018
This is version 177 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health