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UniProtKB - P11055 (MYH3_HUMAN)
Protein
Myosin-3
Gene
MYH3
Organism
Homo sapiens (Human)
Status
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 DA2B3 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 179 – 186 | ATPSequence analysis | 8 |
GO - Molecular functioni
- actin filament binding Source: BHF-UCL
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: BHF-UCL
- calmodulin binding Source: BHF-UCL
- microfilament motor activity Source: BHF-UCL
- 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
- sarcomere organization Source: BHF-UCL
- skeletal muscle contraction Source: BHF-UCL
Keywordsi
Molecular function | Actin-binding, Calmodulin-binding, Motor protein, Muscle protein, Myosin |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P11055 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P11055 |
SIGNORi | P11055 |
Names & Taxonomyi
Protein namesi | Recommended name: Myosin-3Alternative name(s): Muscle embryonic myosin heavy chain Myosin heavy chain 3 Myosin heavy chain, fast skeletal muscle, embryonic SMHCE |
Gene namesi | Name:MYH3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7573, MYH3 |
MIMi | 160720, gene |
neXtProti | NX_P11055 |
VEuPathDBi | HostDB:ENSG00000109063 |
Subcellular locationi
Other locations
Note: Thick filaments of the myofibrils.
Cytoskeleton
- muscle myosin complex Source: BHF-UCL
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- myosin filament Source: UniProtKB-KW
- sarcomere Source: BHF-UCL
Keywords - Cellular componenti
Cytoplasm, Thick filamentPathology & Biotechi
Involvement in diseasei
Arthrogryposis, distal, 2A (DA2A)2 Publications
The disease is caused by variants 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 a H-shaped dimple of the chin.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030370 | 178 | T → I in DA2A and DA2B3. 2 PublicationsCorresponds to variant dbSNP:rs121913619EnsemblClinVar. | 1 | |
Natural variantiVAR_030374 | 498 | E → G in DA2A. 1 Publication | 1 | |
Natural variantiVAR_030376 | 583 | Y → S in DA2A. 1 PublicationCorresponds to variant dbSNP:rs1597488038EnsemblClinVar. | 1 | |
Natural variantiVAR_030377 | 672 | R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar. | 1 | |
Natural variantiVAR_030378 | 672 | R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar. | 1 | |
Natural variantiVAR_030380 | 825 | V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar. | 1 |
Arthrogryposis, distal, 2B3 (DA2B3)2 Publications
The disease is caused by variants 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. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030370 | 178 | T → I in DA2A and DA2B3. 2 PublicationsCorresponds to variant dbSNP:rs121913619EnsemblClinVar. | 1 | |
Natural variantiVAR_082275 | 234 | A → T in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs121913623EnsemblClinVar. | 1 | |
Natural variantiVAR_030371 | 261 | S → F in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs1597490381EnsemblClinVar. | 1 | |
Natural variantiVAR_030372 | 292 | S → C in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar. | 1 | |
Natural variantiVAR_030373 | 375 | E → K in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar. | 1 | |
Natural variantiVAR_082278 | 462 | D → G in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913622EnsemblClinVar. | 1 | |
Natural variantiVAR_030375 | 517 | D → Y in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1597488252EnsemblClinVar. | 1 | |
Natural variantiVAR_030379 | 769 | G → V in DA2B3. 1 Publication | 1 | |
Natural variantiVAR_030381 | 838 | K → E in DA2B3. 1 Publication | 1 | |
Natural variantiVAR_030382 | 841 | Missing in DA2B3. 1 Publication | 1 |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074668 | 243 | Missing in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1555527166Ensembl. | 1 | |
Natural variantiVAR_082276 | 287 | F → V in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567560080EnsemblClinVar. | 1 | |
Natural variantiVAR_082277 | 333 | T → R in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567559562EnsemblClinVar. | 1 | |
Natural variantiVAR_074669 | 1072 | N → NN in CPSFS1A. 1 Publication | 1 | |
Natural variantiVAR_074670 | 1075 | Q → P in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar. | 1 | |
Natural variantiVAR_082279 | 1344 | L → P in CPSFS1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567553806EnsemblClinVar. | 1 |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082274 | 47 – 1940 | Missing in CPSFS1B. 1 PublicationAdd BLAST | 1894 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4621 |
MalaCardsi | MYH3 |
MIMi | 178110, phenotype 193700, phenotype 618436, phenotype 618469, phenotype |
OpenTargetsi | ENSG00000109063 |
Orphaneti | 65743, Autosomal dominant multiple pterygium syndrome 2990, Autosomal recessive multiple pterygium syndrome 1146, Distal arthrogryposis type 1 2053, Freeman-Sheldon syndrome 1147, Sheldon-Hall syndrome 3275, Spondylocarpotarsal synostosis |
PharmGKBi | PA31370 |
Miscellaneous databases
Pharosi | P11055, Tbio |
Genetic variation databases
BioMutai | MYH3 |
DMDMi | 251757455 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000123394 | 1 – 1940 | Myosin-3Add BLAST | 1940 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 130 | N6,N6,N6-trimethyllysineSequence analysis | 1 |
Keywords - PTMi
MethylationProteomic databases
EPDi | P11055 |
jPOSTi | P11055 |
MassIVEi | P11055 |
MaxQBi | P11055 |
PaxDbi | P11055 |
PeptideAtlasi | P11055 |
PRIDEi | P11055 |
ProteomicsDBi | 52691 |
PTM databases
iPTMneti | P11055 |
PhosphoSitePlusi | P11055 |
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
Bgeei | ENSG00000109063, Expressed in colon and 163 other tissues |
Genevisiblei | P11055, HS |
Organism-specific databases
HPAi | ENSG00000109063, Tissue enhanced (prostate, seminal vesicle, skeletal muscle) |
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
BioGRIDi | 110706, 44 interactors |
IntActi | P11055, 19 interactors |
MINTi | P11055 |
STRINGi | 9606.ENSP00000464317 |
Miscellaneous databases
RNActi | P11055, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 33 – 82 | Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST | 50 | |
Domaini | 86 – 779 | Myosin motorPROSITE-ProRule annotationAdd BLAST | 694 | |
Domaini | 782 – 811 | IQPROSITE-ProRule annotationAdd BLAST | 30 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 656 – 678 | Actin-bindingAdd BLAST | 23 | |
Regioni | 758 – 772 | Actin-bindingAdd BLAST | 15 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 840 – 1933 | Sequence analysisAdd BLAST | 1094 |
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 coilPhylogenomic databases
eggNOGi | KOG0161, Eukaryota |
GeneTreei | ENSGT00940000161575 |
HOGENOMi | CLU_000192_8_0_1 |
InParanoidi | P11055 |
OMAi | RMVIHES |
OrthoDBi | 47111at2759 |
PhylomeDBi | P11055 |
TreeFami | TF314375 |
Family and domain databases
CDDi | cd14913, MYSc_Myh3, 1 hit |
Gene3Di | 1.20.5.370, 4 hits 2.30.30.360, 1 hit 3.40.850.10, 1 hit |
InterProi | View protein in InterPro IPR000048, IQ_motif_EF-hand-BS IPR036961, Kinesin_motor_dom_sf IPR001609, Myosin_head_motor_dom IPR004009, Myosin_N IPR008989, Myosin_S1_N IPR002928, Myosin_tail IPR036000, MYSc_Myh3 IPR027417, P-loop_NTPase IPR014751, XRCC4-like_C |
Pfami | View protein in Pfam PF00063, Myosin_head, 1 hit PF02736, Myosin_N, 1 hit PF01576, Myosin_tail_1, 1 hit |
PRINTSi | PR00193, MYOSINHEAVY |
SMARTi | View protein in SMART SM00242, MYSc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50096, IQ, 1 hit PS51456, MYOSIN_MOTOR, 1 hit PS51844, SH3_LIKE, 1 hit |
i Sequence
Sequence statusi: Complete.
P11055-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 327 | A → R in CAA32167 (PubMed:2726495).Curated | 1 | |
Sequence conflicti | 732 | P → L in CAA32167 (PubMed:2726495).Curated | 1 | |
Sequence conflicti | 1331 | A → G in CAA35942 (PubMed:1691980).Curated | 1 | |
Sequence conflicti | 1391 – 1392 | KK → QE in CAA32167 (PubMed:2726495).Curated | 2 | |
Sequence conflicti | 1391 – 1392 | KK → QE in CAA31492 (PubMed:2806546).Curated | 2 | |
Sequence conflicti | 1608 – 1609 | SR → RA in CAA35942 (PubMed:1691980).Curated | 2 | |
Sequence conflicti | 1663 – 1664 | RG → QT in CAA31492 (PubMed:2806546).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082274 | 47 – 1940 | Missing in CPSFS1B. 1 PublicationAdd BLAST | 1894 | |
Natural variantiVAR_030370 | 178 | T → I in DA2A and DA2B3. 2 PublicationsCorresponds to variant dbSNP:rs121913619EnsemblClinVar. | 1 | |
Natural variantiVAR_082275 | 234 | A → T in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs121913623EnsemblClinVar. | 1 | |
Natural variantiVAR_074668 | 243 | Missing in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1555527166Ensembl. | 1 | |
Natural variantiVAR_030371 | 261 | S → F in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs1597490381EnsemblClinVar. | 1 | |
Natural variantiVAR_082276 | 287 | F → V in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567560080EnsemblClinVar. | 1 | |
Natural variantiVAR_030372 | 292 | S → C in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar. | 1 | |
Natural variantiVAR_082277 | 333 | T → R in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567559562EnsemblClinVar. | 1 | |
Natural variantiVAR_030373 | 375 | E → K in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar. | 1 | |
Natural variantiVAR_082278 | 462 | D → G in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913622EnsemblClinVar. | 1 | |
Natural variantiVAR_030374 | 498 | E → G in DA2A. 1 Publication | 1 | |
Natural variantiVAR_030375 | 517 | D → Y in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1597488252EnsemblClinVar. | 1 | |
Natural variantiVAR_030376 | 583 | Y → S in DA2A. 1 PublicationCorresponds to variant dbSNP:rs1597488038EnsemblClinVar. | 1 | |
Natural variantiVAR_030377 | 672 | R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar. | 1 | |
Natural variantiVAR_030378 | 672 | R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar. | 1 | |
Natural variantiVAR_030379 | 769 | G → V in DA2B3. 1 Publication | 1 | |
Natural variantiVAR_030380 | 825 | V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar. | 1 | |
Natural variantiVAR_030381 | 838 | K → E in DA2B3. 1 Publication | 1 | |
Natural variantiVAR_030382 | 841 | Missing in DA2B3. 1 Publication | 1 | |
Natural variantiVAR_056173 | 1003 | A → V. Corresponds to variant dbSNP:rs34088014EnsemblClinVar. | 1 | |
Natural variantiVAR_074669 | 1072 | N → NN in CPSFS1A. 1 Publication | 1 | |
Natural variantiVAR_074670 | 1075 | Q → P in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar. | 1 | |
Natural variantiVAR_030196 | 1137 | R → C. Corresponds to variant dbSNP:rs12941197EnsemblClinVar. | 1 | |
Natural variantiVAR_030197 | 1192 | A → T4 PublicationsCorresponds to variant dbSNP:rs2285477EnsemblClinVar. | 1 | |
Natural variantiVAR_056174 | 1313 | T → I. Corresponds to variant dbSNP:rs35230241EnsemblClinVar. | 1 | |
Natural variantiVAR_082279 | 1344 | L → P in CPSFS1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567553806EnsemblClinVar. | 1 | |
Natural variantiVAR_030383 | 1622 | D → A Originally found in DA2B3 patients. 1 Publication1 PublicationCorresponds to variant dbSNP:rs1446303362Ensembl. | 1 | |
Natural variantiVAR_030384 | 1637 | A → V Originally found in DA2B3 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 |
CCDSi | CCDS11157.1 |
PIRi | S04090 |
RefSeqi | NP_002461.2, NM_002470.3 XP_011522172.1, XM_011523870.2 XP_011522173.1, XM_011523871.2 |
Genome annotation databases
Ensembli | ENST00000583535.6; ENSP00000464317.1; ENSG00000109063.15 |
GeneIDi | 4621 |
KEGGi | hsa:4621 |
MANE-Selecti | ENST00000583535.6; ENSP00000464317.1; NM_002470.4; NP_002461.2 |
UCSCi | uc002gmq.3, human |
Similar proteinsi
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 |
CCDSi | CCDS11157.1 |
PIRi | S04090 |
RefSeqi | NP_002461.2, NM_002470.3 XP_011522172.1, XM_011523870.2 XP_011522173.1, XM_011523871.2 |
3D structure databases
AlphaFoldDBi | P11055 |
SMRi | P11055 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110706, 44 interactors |
IntActi | P11055, 19 interactors |
MINTi | P11055 |
STRINGi | 9606.ENSP00000464317 |
PTM databases
iPTMneti | P11055 |
PhosphoSitePlusi | P11055 |
Genetic variation databases
BioMutai | MYH3 |
DMDMi | 251757455 |
Proteomic databases
EPDi | P11055 |
jPOSTi | P11055 |
MassIVEi | P11055 |
MaxQBi | P11055 |
PaxDbi | P11055 |
PeptideAtlasi | P11055 |
PRIDEi | P11055 |
ProteomicsDBi | 52691 |
Protocols and materials databases
Antibodypediai | 12917, 116 antibodies from 29 providers |
DNASUi | 4621 |
Genome annotation databases
Ensembli | ENST00000583535.6; ENSP00000464317.1; ENSG00000109063.15 |
GeneIDi | 4621 |
KEGGi | hsa:4621 |
MANE-Selecti | ENST00000583535.6; ENSP00000464317.1; NM_002470.4; NP_002461.2 |
UCSCi | uc002gmq.3, human |
Organism-specific databases
CTDi | 4621 |
DisGeNETi | 4621 |
GeneCardsi | MYH3 |
HGNCi | HGNC:7573, MYH3 |
HPAi | ENSG00000109063, Tissue enhanced (prostate, seminal vesicle, skeletal muscle) |
MalaCardsi | MYH3 |
MIMi | 160720, gene 178110, phenotype 193700, phenotype 618436, phenotype 618469, phenotype |
neXtProti | NX_P11055 |
OpenTargetsi | ENSG00000109063 |
Orphaneti | 65743, Autosomal dominant multiple pterygium syndrome 2990, Autosomal recessive multiple pterygium syndrome 1146, Distal arthrogryposis type 1 2053, Freeman-Sheldon syndrome 1147, Sheldon-Hall syndrome 3275, Spondylocarpotarsal synostosis |
PharmGKBi | PA31370 |
VEuPathDBi | HostDB:ENSG00000109063 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0161, Eukaryota |
GeneTreei | ENSGT00940000161575 |
HOGENOMi | CLU_000192_8_0_1 |
InParanoidi | P11055 |
OMAi | RMVIHES |
OrthoDBi | 47111at2759 |
PhylomeDBi | P11055 |
TreeFami | TF314375 |
Enzyme and pathway databases
PathwayCommonsi | P11055 |
Reactomei | R-HSA-390522, Striated Muscle Contraction |
SignaLinki | P11055 |
SIGNORi | P11055 |
Miscellaneous databases
BioGRID-ORCSi | 4621, 7 hits in 1068 CRISPR screens |
ChiTaRSi | MYH3, human |
GeneWikii | MYH3 |
GenomeRNAii | 4621 |
Pharosi | P11055, Tbio |
PROi | PR:P11055 |
RNActi | P11055, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000109063, Expressed in colon and 163 other tissues |
Genevisiblei | P11055, HS |
Family and domain databases
CDDi | cd14913, MYSc_Myh3, 1 hit |
Gene3Di | 1.20.5.370, 4 hits 2.30.30.360, 1 hit 3.40.850.10, 1 hit |
InterProi | View protein in InterPro IPR000048, IQ_motif_EF-hand-BS IPR036961, Kinesin_motor_dom_sf IPR001609, Myosin_head_motor_dom IPR004009, Myosin_N IPR008989, Myosin_S1_N IPR002928, Myosin_tail IPR036000, MYSc_Myh3 IPR027417, P-loop_NTPase IPR014751, XRCC4-like_C |
Pfami | View protein in Pfam PF00063, Myosin_head, 1 hit PF02736, Myosin_N, 1 hit PF01576, Myosin_tail_1, 1 hit |
PRINTSi | PR00193, MYOSINHEAVY |
SMARTi | View protein in SMART SM00242, MYSc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50096, IQ, 1 hit PS51456, MYOSIN_MOTOR, 1 hit PS51844, SH3_LIKE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MYH3_HUMAN | |
Accessioni | P11055Primary (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: | May 25, 2022 | |
This is version 203 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families