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Protein

Myosin-8

Gene

MYH8

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 bindingi181 – 1888ATP

GO - Molecular functioni

  • actin filament binding Source: BHF-UCL
  • ATPase activity Source: BHF-UCL
  • ATP binding Source: BHF-UCL
  • microfilament motor activity Source: BHF-UCL
  • myosin light chain binding Source: BHF-UCL
  • structural constituent of muscle Source: UniProtKB

GO - Biological processi

  • ATP metabolic process Source: BHF-UCL
  • muscle contraction Source: UniProtKB
  • muscle filament sliding 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

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-8
Alternative name(s):
Myosin heavy chain 8
Myosin heavy chain, skeletal muscle, perinatal
Short name:
MyHC-perinatal
Gene namesi
Name:MYH8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:7578. MYH8.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Carney complex variant (CACOV)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionCarney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

See also OMIM:608837
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti674 – 6741R → Q in CACOV and DA7. 2 Publications
Corresponds to variant rs28932773 [ dbSNP | Ensembl ].
VAR_019810
Arthrogryposis, distal, 7 (DA7)2 Publications

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. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature.

See also OMIM:158300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti674 – 6741R → Q in CACOV and DA7. 2 Publications
Corresponds to variant rs28932773 [ dbSNP | Ensembl ].
VAR_019810

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158300. phenotype.
608837. phenotype.
Orphaneti319340. Carney complex-trismus-pseudocamptodactyly syndrome.
3377. Trismus - pseudocamptodactyly.
PharmGKBiPA31376.

Polymorphism and mutation databases

BioMutaiMYH8.
DMDMi3041707.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19371937Myosin-8PRO_0000123413Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei132 – 1321N6,N6,N6-trimethyllysineSequence Analysis

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP13535.
PRIDEiP13535.

PTM databases

PhosphoSiteiP13535.

Expressioni

Gene expression databases

BgeeiP13535.
CleanExiHS_MYH8.
GenevisibleiP13535. HS.

Organism-specific databases

HPAiCAB016527.

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).

Protein-protein interaction databases

BioGridi110711. 2 interactions.
IntActiP13535. 1 interaction.
STRINGi9606.ENSP00000384330.

Structurei

3D structure databases

ProteinModelPortaliP13535.
SMRiP13535. Positions 6-966.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini88 – 781694Myosin motorAdd
BLAST
Domaini781 – 81333IQPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni658 – 68023Actin-bindingAdd
BLAST
Regioni760 – 77415Actin-bindingAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili842 – 19371096Sequence 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.
Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00760000118919.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP13535.
KOiK10352.
OMAiDESGKMQ.
OrthoDBiEOG7RBZ7G.
PhylomeDBiP13535.
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.
SMARTiSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P13535-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSASSDAEMA VFGEAAPYLR KSEKERIEAQ NKPFDAKTSV FVAEPKESYV
60 70 80 90 100
KSTIQSKEGG KVTVKTEGGA TLTVREDQVF PMNPPKYDKI EDMAMMTHLH
110 120 130 140 150
EPGVLYNLKE RYAAWMIYTY SGLFCVTVNP YKWLPVYKPE VVAAYRGKKR
160 170 180 190 200
QEAPPHIFSI SDNAYQFMLT DRENQSILIT GESGAGKTVN TKRVIQYFAT
210 220 230 240 250
IAVTGEKKKD ESGKMQGTLE DQIISANPLL EAFGNAKTVR NDNSSRFGKF
260 270 280 290 300
IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QITSNKKPDL
310 320 330 340 350
IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAID ILGFTPEEKV
360 370 380 390 400
SIYKLTGAVM HYGNMKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK
410 420 430 440 450
ALCYPRVKVG NEYVTKGQTV QQVYNAVGAL AKAVYEKMFL WMVTRINQQL
460 470 480 490 500
DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC INFTNEKLQQ FFNHHMFVLE
510 520 530 540 550
QEEYKKEGIE WTFIDFGMDL AACIELIEKP LGIFSILEEE CMFPKATDTS
560 570 580 590 600
FKNKLYDQHL GKSANFQKPK VVKGKAEAHF SLIHYAGTVD YNITGWLDKN
610 620 630 640 650
KDPLNDTVVG LYQKSAMKTL ASLFSTYASA EADSSAKKGA KKKGSSFQTV
660 670 680 690 700
SALFRENLNK LMTNLRSTHP HFVRCIIPNE TKTPGAMEHE LVLHQLRCNG
710 720 730 740 750
VLEGIRICRK GFPSRILYGD FKQRYKVLNA SAIPEGQFID SKKASEKLLA
760 770 780 790 800
SIDIDHTQYK FGHTKVFFKA GLLGLLEEMR DEKLAQIITR TQAVCRGFLM
810 820 830 840 850
RVEYQKMLQR REALFCIQYN VRAFMNVKHW PWMKLFFKIK PLLKSAETEK
860 870 880 890 900
EMATMKEEFQ KTKDELAKSE AKRKELEEKM VTLLKEKNDL QLQVQSEADS
910 920 930 940 950
LADAEERCEQ LIKNKIQLEA KIKEVTERAE EEEEINAELT AKKRKLEDEC
960 970 980 990 1000
SELKKDIDDL ELTLAKVEKE KHATENKVKN LTEEMAGLDE TIAKLSKEKK
1010 1020 1030 1040 1050
ALQETHQQTL DDLQAEEDKV NILTKAKTKL EQQVDDLEGS LEQEKKLRMD
1060 1070 1080 1090 1100
LERAKRKLEG DLKLAQESTM DMENDKQQLD EKLEKKEFEI SNLISKIEDE
1110 1120 1130 1140 1150
QAVEIQLQKK IKELQARIEE LGEEIEAERA SRAKAEKQRS DLSRELEEIS
1160 1170 1180 1190 1200
ERLEEAGGAT SAQVELNKKR EAEFQKLRRD LEEATLQHEA MVAALRKKHA
1210 1220 1230 1240 1250
DSMAELGEQI DNLQRVKQKL EKEKSELKME TDDLSSNAEA ISKAKGNLEK
1260 1270 1280 1290 1300
MCRSLEDQVS ELKTKEEEQQ RLINDLTAQR ARLQTEAGEY SRQLDEKDAL
1310 1320 1330 1340 1350
VSQLSRSKQA STQQIEELKH QLEEETKAKN ALAHALQSSR HDCDLLREQY
1360 1370 1380 1390 1400
EEEQEGKAEL QRALSKANSE VAQWRTKYET DAIQRTEELE EAKKKLAQRL
1410 1420 1430 1440 1450
QEAEEHVEAV NAKCASLEKT KQRLQNEVED LMLDVERSNA ACAALDKKQR
1460 1470 1480 1490 1500
NFDKVLSEWK QKYEETQAEL EASQKESRSL STELFKVKNV YEESLDQLET
1510 1520 1530 1540 1550
LRRENKNLQQ EISDLTEQIA EGGKQIHELE KIKKQVEQEK CEIQAALEEA
1560 1570 1580 1590 1600
EASLEHEEGK ILRIQLELNQ VKSEVDRKIA EKDEEIDQLK RNHTRVVETM
1610 1620 1630 1640 1650
QSTLDAEIRS RNDALRVKKK MEGDLNEMEI QLNHANRLAA ESLRNYRNTQ
1660 1670 1680 1690 1700
GILKETQLHL DDALRGQEDL KEQLAIVERR ANLLQAEIEE LWATLEQTER
1710 1720 1730 1740 1750
SRKIAEQELL DASERVQLLH TQNTSLINTK KKLENDVSQL QSEVEEVIQE
1760 1770 1780 1790 1800
SRNAEEKAKK AITDAAMMAE ELKKEQDTSA HLERMKKNLE QTVKDLQHRL
1810 1820 1830 1840 1850
DEAEQLALKG GKKQIQKLEA RVRELEGEVE NEQKRNAEAV KGLRKHERRV
1860 1870 1880 1890 1900
KELTYQTEED RKNVLRLQDL VDKLQAKVKS YKRQAEEAEE QSNANLSKFR
1910 1920 1930
KLQHELEEAE ERADIAESQV NKLRVKSREV HTKISAE
Length:1,937
Mass (Da):222,763
Last modified:July 15, 1998 - v3
Checksum:iA3EE2D151792E9E8
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151A → R in CAA86293 (PubMed:7601129).Curated
Sequence conflicti970 – 9701E → Q (PubMed:2373371).Curated
Sequence conflicti970 – 9701E → Q (PubMed:2715179).Curated
Sequence conflicti1072 – 10721M → N in CAA35941 (PubMed:1691980).Curated
Sequence conflicti1247 – 12471N → H (PubMed:2373371).Curated
Sequence conflicti1247 – 12471N → H (PubMed:2715179).Curated
Sequence conflicti1251 – 12522MC → DGG in CAA35941 (PubMed:1691980).Curated
Sequence conflicti1297 – 12971K → Q (PubMed:2373371).Curated
Sequence conflicti1297 – 12971K → Q (PubMed:2715179).Curated
Sequence conflicti1377 – 13782KY → NT in CAA35941 (PubMed:1691980).Curated
Sequence conflicti1504 – 15052EN → AH (PubMed:2373371).Curated
Sequence conflicti1504 – 15052EN → AH (PubMed:2715179).Curated
Sequence conflicti1847 – 18471E → D (PubMed:2373371).Curated
Sequence conflicti1847 – 18471E → D (PubMed:2715179).Curated
Sequence conflicti1914 – 19141D → H in CAA86293 (PubMed:7601129).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti326 – 3261I → T.
Corresponds to variant rs34124921 [ dbSNP | Ensembl ].
VAR_050202
Natural varianti636 – 6361A → V.
Corresponds to variant rs34693726 [ dbSNP | Ensembl ].
VAR_050203
Natural varianti674 – 6741R → Q in CACOV and DA7. 2 Publications
Corresponds to variant rs28932773 [ dbSNP | Ensembl ].
VAR_019810
Natural varianti924 – 9241E → G.
Corresponds to variant rs4372733 [ dbSNP | Ensembl ].
VAR_030207
Natural varianti1229 – 12291M → T.
Corresponds to variant rs35962914 [ dbSNP | Ensembl ].
VAR_050204
Natural varianti1261 – 12611E → G.2 Publications
Corresponds to variant rs1063926 [ dbSNP | Ensembl ].
VAR_030208
Natural varianti1692 – 16921W → R.
Corresponds to variant rs8069834 [ dbSNP | Ensembl ].
VAR_030209

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36769 mRNA. Translation: AAC17185.1.
Z38133 mRNA. Translation: CAA86293.1.
X51592 mRNA. Translation: CAA35941.1.
AF067143 Genomic DNA. Translation: AAC21557.1.
CCDSiCCDS11153.1.
PIRiI38055.
RefSeqiNP_002463.2. NM_002472.2.
UniGeneiHs.700484.

Genome annotation databases

EnsembliENST00000403437; ENSP00000384330; ENSG00000133020.
GeneIDi4626.
KEGGihsa:4626.
UCSCiuc002gmm.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M36769 mRNA. Translation: AAC17185.1.
Z38133 mRNA. Translation: CAA86293.1.
X51592 mRNA. Translation: CAA35941.1.
AF067143 Genomic DNA. Translation: AAC21557.1.
CCDSiCCDS11153.1.
PIRiI38055.
RefSeqiNP_002463.2. NM_002472.2.
UniGeneiHs.700484.

3D structure databases

ProteinModelPortaliP13535.
SMRiP13535. Positions 6-966.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110711. 2 interactions.
IntActiP13535. 1 interaction.
STRINGi9606.ENSP00000384330.

PTM databases

PhosphoSiteiP13535.

Polymorphism and mutation databases

BioMutaiMYH8.
DMDMi3041707.

Proteomic databases

MaxQBiP13535.
PRIDEiP13535.

Protocols and materials databases

DNASUi4626.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000403437; ENSP00000384330; ENSG00000133020.
GeneIDi4626.
KEGGihsa:4626.
UCSCiuc002gmm.2. human.

Organism-specific databases

CTDi4626.
GeneCardsiGC17M010293.
H-InvDBHIX0039253.
HGNCiHGNC:7578. MYH8.
HPAiCAB016527.
MIMi158300. phenotype.
160741. gene.
608837. phenotype.
neXtProtiNX_P13535.
Orphaneti319340. Carney complex-trismus-pseudocamptodactyly syndrome.
3377. Trismus - pseudocamptodactyly.
PharmGKBiPA31376.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000118919.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP13535.
KOiK10352.
OMAiDESGKMQ.
OrthoDBiEOG7RBZ7G.
PhylomeDBiP13535.
TreeFamiTF314375.

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

GeneWikiiMYH8.
GenomeRNAii4626.
NextBioi17806.
PROiP13535.
SOURCEiSearch...

Gene expression databases

BgeeiP13535.
CleanExiHS_MYH8.
GenevisibleiP13535. 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.
SMARTiSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA."
    Karsch-Mizrachi I., Feghali R., Shows T.B. Jr., Leinwand L.A.
    Gene 89:289-294(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-1261.
    Tissue: Skeletal muscle.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  3. "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 502-1937.
    Tissue: Skeletal muscle.
  4. "Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain."
    Feghali R., Leinwand L.A.
    J. Cell Biol. 108:1791-1797(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 860-1937, VARIANT GLY-1261.
  5. "Isolation and characterization of the human perinatal MHC promoter."
    Esser K., Tidhar A., Myszkowski M.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-46.
  6. Cited for: VARIANT CACOV GLN-674, VARIANT DA7 GLN-674.
  7. "Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly."
    Bonapace G., Ceravolo F., Piccirillo A., Duro G., Strisciuglio P., Concolino D.
    Am. J. Med. Genet. A 152:2898-2900(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA7 GLN-674.

Entry informationi

Entry nameiMYH8_HUMAN
AccessioniPrimary (citable) accession number: P13535
Secondary accession number(s): Q14910
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: July 15, 1998
Last modified: July 22, 2015
This is version 155 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

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

External Data

Dasty 3

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 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.