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Protein

Myosin-3

Gene

MYH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Muscle contraction.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi179 – 1868ATPSequence analysis

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: UniProtKB
  • 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
  • muscle filament sliding Source: Reactome
  • muscle organ development Source: ProtInc
  • protein dephosphorylation Source: GOC
  • sarcomere organization Source: BHF-UCL
  • skeletal muscle contraction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
R-HSA-390522. Striated Muscle Contraction.

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

HGNCiHGNC:7573. MYH3.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • muscle myosin complex Source: BHF-UCL
  • myosin filament Source: UniProtKB-KW
  • sarcomere Source: BHF-UCL
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781T → I in DA2A and DA2B. 1 Publication
VAR_030370
Natural varianti498 – 4981E → G in DA2A. 1 Publication
VAR_030374
Natural varianti583 – 5831Y → S in DA2A. 1 Publication
VAR_030376
Natural varianti672 – 6721R → C in DA2A. 1 Publication
VAR_030377
Natural varianti672 – 6721R → H in DA2A. 1 Publication
VAR_030378
Natural varianti825 – 8251V → D in DA2A. 1 Publication
VAR_030380
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781T → I in DA2A and DA2B. 1 Publication
VAR_030370
Natural varianti261 – 2611S → F in DA2B. 1 Publication
VAR_030371
Natural varianti292 – 2921S → C in DA2B. 1 Publication
VAR_030372
Natural varianti375 – 3751E → K in DA2B. 1 Publication
VAR_030373
Natural varianti517 – 5171D → Y in DA2B. 1 Publication
VAR_030375
Natural varianti769 – 7691G → V in DA2B. 1 Publication
VAR_030379
Natural varianti838 – 8381K → E in DA2B. 1 Publication
VAR_030381
Natural varianti841 – 8411Missing in DA2B. 1 Publication
VAR_030382
Natural varianti1622 – 16221D → A Polymorphism; originally found in DA2B patients. 1 Publication1 Publication
VAR_030383
Natural varianti1637 – 16371A → V Polymorphism; originally found in DA2B patients. 1 Publication1 Publication
Corresponds to variant rs34165480 [ dbSNP | Ensembl ].
VAR_030384
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431Missing in DA8. 1 Publication
VAR_074668
Natural varianti1072 – 10721N → NN in DA8. 1 Publication
VAR_074669
Natural varianti1075 – 10751Q → P in DA8. 1 Publication
VAR_074670

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiMYH3.
MIMi178110. phenotype.
193700. phenotype.
601680. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19401940Myosin-3PRO_0000123394Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei130 – 1301N6,N6,N6-trimethyllysineSequence analysis

Keywords - PTMi

Methylation

Proteomic databases

EPDiP11055.
MaxQBiP11055.
PaxDbiP11055.
PRIDEiP11055.

PTM databases

iPTMnetiP11055.
PhosphoSiteiP11055.

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

BgeeiP11055.
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

Protein-protein interaction databases

BioGridi110706. 11 interactions.
IntActiP11055. 10 interactions.
MINTiMINT-2801002.
STRINGi9606.ENSP00000226209.

Structurei

3D structure databases

ProteinModelPortaliP11055.
SMRiP11055. Positions 4-964, 1174-1274, 1776-1857.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini86 – 779694Myosin motorAdd
BLAST
Domaini782 – 81130IQPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni656 – 67823Actin-bindingAdd
BLAST
Regioni758 – 77215Actin-bindingAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili840 – 19331094Sequence analysisAdd
BLAST

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

Contains 1 IQ domain.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0161. Eukaryota.
COG5022. LUCA.
GeneTreeiENSGT00760000118919.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP11055.
KOiK10352.
OMAiDEQANAH.
OrthoDBiEOG7RBZ7G.
PhylomeDBiP11055.
TreeFamiTF314375.

Family and domain databases

Gene3Di4.10.270.10. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti327 – 3271A → R in CAA32167 (PubMed:2726495).Curated
Sequence conflicti732 – 7321P → L in CAA32167 (PubMed:2726495).Curated
Sequence conflicti1331 – 13311A → G in CAA35942 (PubMed:1691980).Curated
Sequence conflicti1391 – 13922KK → QE in CAA32167 (PubMed:2726495).Curated
Sequence conflicti1391 – 13922KK → QE in CAA31492 (PubMed:2806546).Curated
Sequence conflicti1608 – 16092SR → RA in CAA35942 (PubMed:1691980).Curated
Sequence conflicti1663 – 16642RG → QT in CAA31492 (PubMed:2806546).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781T → I in DA2A and DA2B. 1 Publication
VAR_030370
Natural varianti243 – 2431Missing in DA8. 1 Publication
VAR_074668
Natural varianti261 – 2611S → F in DA2B. 1 Publication
VAR_030371
Natural varianti292 – 2921S → C in DA2B. 1 Publication
VAR_030372
Natural varianti375 – 3751E → K in DA2B. 1 Publication
VAR_030373
Natural varianti498 – 4981E → G in DA2A. 1 Publication
VAR_030374
Natural varianti517 – 5171D → Y in DA2B. 1 Publication
VAR_030375
Natural varianti583 – 5831Y → S in DA2A. 1 Publication
VAR_030376
Natural varianti672 – 6721R → C in DA2A. 1 Publication
VAR_030377
Natural varianti672 – 6721R → H in DA2A. 1 Publication
VAR_030378
Natural varianti769 – 7691G → V in DA2B. 1 Publication
VAR_030379
Natural varianti825 – 8251V → D in DA2A. 1 Publication
VAR_030380
Natural varianti838 – 8381K → E in DA2B. 1 Publication
VAR_030381
Natural varianti841 – 8411Missing in DA2B. 1 Publication
VAR_030382
Natural varianti1003 – 10031A → V.
Corresponds to variant rs34088014 [ dbSNP | Ensembl ].
VAR_056173
Natural varianti1072 – 10721N → NN in DA8. 1 Publication
VAR_074669
Natural varianti1075 – 10751Q → P in DA8. 1 Publication
VAR_074670
Natural varianti1137 – 11371R → C.
Corresponds to variant rs12941197 [ dbSNP | Ensembl ].
VAR_030196
Natural varianti1192 – 11921A → T.4 Publications
Corresponds to variant rs2285477 [ dbSNP | Ensembl ].
VAR_030197
Natural varianti1313 – 13131T → I.
Corresponds to variant rs35230241 [ dbSNP | Ensembl ].
VAR_056174
Natural varianti1622 – 16221D → A Polymorphism; originally found in DA2B patients. 1 Publication1 Publication
VAR_030383
Natural varianti1637 – 16371A → V Polymorphism; originally found in DA2B patients. 1 Publication1 Publication
Corresponds to variant rs34165480 [ dbSNP | Ensembl ].
VAR_030384

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_011523870.1.
XP_011522173.1. XM_011523871.1.
UniGeneiHs.440895.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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_011523870.1.
XP_011522173.1. XM_011523871.1.
UniGeneiHs.440895.

3D structure databases

ProteinModelPortaliP11055.
SMRiP11055. Positions 4-964, 1174-1274, 1776-1857.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110706. 11 interactions.
IntActiP11055. 10 interactions.
MINTiMINT-2801002.
STRINGi9606.ENSP00000226209.

PTM databases

iPTMnetiP11055.
PhosphoSiteiP11055.

Polymorphism and mutation databases

BioMutaiMYH3.
DMDMi251757455.

Proteomic databases

EPDiP11055.
MaxQBiP11055.
PaxDbiP11055.
PRIDEiP11055.

Protocols and materials databases

DNASUi4621.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4621.
GeneCardsiMYH3.
H-InvDBHIX0039137.
HGNCiHGNC:7573. MYH3.
HPAiHPA021808.
MalaCardsiMYH3.
MIMi160720. gene.
178110. phenotype.
193700. phenotype.
601680. phenotype.
neXtProtiNX_P11055.
Orphaneti1146. Digitotalar dysmorphism.
2053. Freeman-Sheldon syndrome.
1147. Sheldon-Hall syndrome.
PharmGKBiPA31370.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0161. Eukaryota.
COG5022. LUCA.
GeneTreeiENSGT00760000118919.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP11055.
KOiK10352.
OMAiDEQANAH.
OrthoDBiEOG7RBZ7G.
PhylomeDBiP11055.
TreeFamiTF314375.

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
R-HSA-390522. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSiMYH3. human.
GeneWikiiMYH3.
GenomeRNAii4621.
PROiP11055.
SOURCEiSearch...

Gene expression databases

BgeeiP11055.
CleanExiHS_MYH3.
GenevisibleiP11055. HS.

Family and domain databases

Gene3Di4.10.270.10. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA."
    Eller M.S., Stedman H.H., Sylvester J.E., Fertels S.H., Rubinstein N.A., Kelly A.M., Sarkar S.
    Nucleic Acids Res. 17:3591-3592(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-1192.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene."
    Eller M.S., Stedman H.H., Sylvester J.E., Fertels S.H., Wu Q.-L., Raychowdhury M.K., Rubinstein N.A., Kelly A.M., Sarkar S.
    FEBS Lett. 256:21-28(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 774-1940, VARIANT THR-1192.
  4. "Identification of three developmentally controlled isoforms of human myosin heavy chains."
    Bober E., Buchberger-Seidl A., Braun T., Singh S., Goedde H.W., Arnold H.H.
    Eur. J. Biochem. 189:55-65(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 856-1940, VARIANT THR-1192.
    Tissue: Skeletal muscle.
  5. "Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene."
    Karsch-Mizrachi I., Travis M., Blau H., Leinwand L.A.
    Nucleic Acids Res. 17:6167-6179(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 856-1940, VARIANT THR-1192.
  6. "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome."
    Toydemir R.M., Rutherford A., Whitby F.G., Jorde L.B., Carey J.C., Bamshad M.J.
    Nat. Genet. 38:561-565(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DA2A, INVOLVEMENT IN DA2B, VARIANTS DA2A GLY-498; SER-583; CYS-672; HIS-672 AND ASP-825, VARIANTS DA2B PHE-261; CYS-292; LYS-375; TYR-517; VAL-769 AND GLU-838; LEU-841 DEL, VARIANT DA2A/DA2B ILE-178, VARIANTS ALA-1622 AND VAL-1637.
  7. Cited for: INVOLVEMENT IN DA8, TISSUE SPECIFICITY, VARIANTS DA8 SER-243 DEL; ASN-1072 INS AND PRO-1075, CLASSIFICATION OF VARIANTS ALA-1622 AND VAL-1637.

Entry informationi

Entry nameiMYH3_HUMAN
AccessioniPrimary (citable) accession number: P11055
Secondary accession number(s): Q15492
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 7, 2009
Last modified: June 8, 2016
This is version 161 of the entry and version 3 of the sequence. [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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.