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P13535

- MYH8_HUMAN

UniProt

P13535 - MYH8_HUMAN

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Protein
Myosin-8
Gene
MYH8
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. ATP binding Source: BHF-UCL
  2. ATPase activity Source: BHF-UCL
  3. actin filament binding Source: BHF-UCL
  4. microfilament motor activity Source: BHF-UCL
  5. myosin light chain binding Source: BHF-UCL
  6. structural constituent of muscle Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. ATP catabolic process Source: BHF-UCL
  2. muscle contraction Source: UniProtKB
  3. muscle filament sliding Source: BHF-UCL
  4. 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: Chromosome 17

Organism-specific databases

HGNCiHGNC:7578. MYH8.

Subcellular locationi

Cytoplasmmyofibril
Note: Thick filaments of the myofibrils.

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. cytosol Source: Reactome
  3. muscle myosin complex Source: UniProtKB
  4. myosin filament Source: BHF-UCL
  5. sarcomere Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Carney complex variant (CACOV) [MIM:608837]: Carney 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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) [MIM:158300]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei132 – 1321N6,N6,N6-trimethyllysine Reviewed prediction

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP13535.
PRIDEiP13535.

PTM databases

PhosphoSiteiP13535.

Expressioni

Gene expression databases

BgeeiP13535.
CleanExiHS_MYH8.
GenevestigatoriP13535.

Organism-specific databases

HPAiCAB016527.
HPA001239.
HPA001349.

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. 1 interaction.
IntActiP13535. 1 interaction.
STRINGi9606.ENSP00000252173.

Structurei

3D structure databases

ProteinModelPortaliP13535.
SMRiP13535. Positions 6-966.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini88 – 781694Myosin motor
Add
BLAST
Domaini781 – 81333IQ
Add
BLAST

Region

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili842 – 19371096 Reviewed prediction
Add
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.

Keywords - Domaini

Coiled coil

Phylogenomic databases

HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP13535.
KOiK10352.
OMAiQLKRNHT.
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

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MSASSDAEMA VFGEAAPYLR KSEKERIEAQ NKPFDAKTSV FVAEPKESYV     50
KSTIQSKEGG KVTVKTEGGA TLTVREDQVF PMNPPKYDKI EDMAMMTHLH 100
EPGVLYNLKE RYAAWMIYTY SGLFCVTVNP YKWLPVYKPE VVAAYRGKKR 150
QEAPPHIFSI SDNAYQFMLT DRENQSILIT GESGAGKTVN TKRVIQYFAT 200
IAVTGEKKKD ESGKMQGTLE DQIISANPLL EAFGNAKTVR NDNSSRFGKF 250
IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QITSNKKPDL 300
IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAID ILGFTPEEKV 350
SIYKLTGAVM HYGNMKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK 400
ALCYPRVKVG NEYVTKGQTV QQVYNAVGAL AKAVYEKMFL WMVTRINQQL 450
DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC INFTNEKLQQ FFNHHMFVLE 500
QEEYKKEGIE WTFIDFGMDL AACIELIEKP LGIFSILEEE CMFPKATDTS 550
FKNKLYDQHL GKSANFQKPK VVKGKAEAHF SLIHYAGTVD YNITGWLDKN 600
KDPLNDTVVG LYQKSAMKTL ASLFSTYASA EADSSAKKGA KKKGSSFQTV 650
SALFRENLNK LMTNLRSTHP HFVRCIIPNE TKTPGAMEHE LVLHQLRCNG 700
VLEGIRICRK GFPSRILYGD FKQRYKVLNA SAIPEGQFID SKKASEKLLA 750
SIDIDHTQYK FGHTKVFFKA GLLGLLEEMR DEKLAQIITR TQAVCRGFLM 800
RVEYQKMLQR REALFCIQYN VRAFMNVKHW PWMKLFFKIK PLLKSAETEK 850
EMATMKEEFQ KTKDELAKSE AKRKELEEKM VTLLKEKNDL QLQVQSEADS 900
LADAEERCEQ LIKNKIQLEA KIKEVTERAE EEEEINAELT AKKRKLEDEC 950
SELKKDIDDL ELTLAKVEKE KHATENKVKN LTEEMAGLDE TIAKLSKEKK 1000
ALQETHQQTL DDLQAEEDKV NILTKAKTKL EQQVDDLEGS LEQEKKLRMD 1050
LERAKRKLEG DLKLAQESTM DMENDKQQLD EKLEKKEFEI SNLISKIEDE 1100
QAVEIQLQKK IKELQARIEE LGEEIEAERA SRAKAEKQRS DLSRELEEIS 1150
ERLEEAGGAT SAQVELNKKR EAEFQKLRRD LEEATLQHEA MVAALRKKHA 1200
DSMAELGEQI DNLQRVKQKL EKEKSELKME TDDLSSNAEA ISKAKGNLEK 1250
MCRSLEDQVS ELKTKEEEQQ RLINDLTAQR ARLQTEAGEY SRQLDEKDAL 1300
VSQLSRSKQA STQQIEELKH QLEEETKAKN ALAHALQSSR HDCDLLREQY 1350
EEEQEGKAEL QRALSKANSE VAQWRTKYET DAIQRTEELE EAKKKLAQRL 1400
QEAEEHVEAV NAKCASLEKT KQRLQNEVED LMLDVERSNA ACAALDKKQR 1450
NFDKVLSEWK QKYEETQAEL EASQKESRSL STELFKVKNV YEESLDQLET 1500
LRRENKNLQQ EISDLTEQIA EGGKQIHELE KIKKQVEQEK CEIQAALEEA 1550
EASLEHEEGK ILRIQLELNQ VKSEVDRKIA EKDEEIDQLK RNHTRVVETM 1600
QSTLDAEIRS RNDALRVKKK MEGDLNEMEI QLNHANRLAA ESLRNYRNTQ 1650
GILKETQLHL DDALRGQEDL KEQLAIVERR ANLLQAEIEE LWATLEQTER 1700
SRKIAEQELL DASERVQLLH TQNTSLINTK KKLENDVSQL QSEVEEVIQE 1750
SRNAEEKAKK AITDAAMMAE ELKKEQDTSA HLERMKKNLE QTVKDLQHRL 1800
DEAEQLALKG GKKQIQKLEA RVRELEGEVE NEQKRNAEAV KGLRKHERRV 1850
KELTYQTEED RKNVLRLQDL VDKLQAKVKS YKRQAEEAEE QSNANLSKFR 1900
KLQHELEEAE ERADIAESQV NKLRVKSREV HTKISAE 1937
Length:1,937
Mass (Da):222,763
Last modified:July 15, 1998 - v3
Checksum:iA3EE2D151792E9E8
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151A → R in CAA86293. 1 Publication
Sequence conflicti970 – 9701E → Q1 Publication
Sequence conflicti970 – 9701E → Q1 Publication
Sequence conflicti1072 – 10721M → N in CAA35941. 1 Publication
Sequence conflicti1247 – 12471N → H1 Publication
Sequence conflicti1247 – 12471N → H1 Publication
Sequence conflicti1251 – 12522MC → DGG in CAA35941. 1 Publication
Sequence conflicti1297 – 12971K → Q1 Publication
Sequence conflicti1297 – 12971K → Q1 Publication
Sequence conflicti1377 – 13782KY → NT in CAA35941. 1 Publication
Sequence conflicti1504 – 15052EN → AH1 Publication
Sequence conflicti1504 – 15052EN → AH1 Publication
Sequence conflicti1847 – 18471E → D1 Publication
Sequence conflicti1847 – 18471E → D1 Publication
Sequence conflicti1914 – 19141D → H in CAA86293. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi3041707.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M36769 mRNA. Translation: AAC17185.1 .
Z38133 mRNA. Translation: CAA86293.1 .
X51592 mRNA. Translation: CAA35941.1 .
AF067143 Genomic DNA. Translation: AAC21557.1 .
CCDSi CCDS11153.1.
PIRi I38055.
RefSeqi NP_002463.2. NM_002472.2.
UniGenei Hs.700484.

3D structure databases

ProteinModelPortali P13535.
SMRi P13535. Positions 6-966.
ModBasei Search...

Protein-protein interaction databases

BioGridi 110711. 1 interaction.
IntActi P13535. 1 interaction.
STRINGi 9606.ENSP00000252173.

PTM databases

PhosphoSitei P13535.

Polymorphism databases

DMDMi 3041707.

Proteomic databases

MaxQBi P13535.
PRIDEi P13535.

Protocols and materials databases

DNASUi 4626.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000403437 ; ENSP00000384330 ; ENSG00000133020 .
GeneIDi 4626.
KEGGi hsa:4626.
UCSCi uc002gmm.2. human.

Organism-specific databases

CTDi 4626.
GeneCardsi GC17M010293.
H-InvDB HIX0039253.
HGNCi HGNC:7578. MYH8.
HPAi CAB016527.
HPA001239.
HPA001349.
MIMi 158300. phenotype.
160741. gene.
608837. phenotype.
neXtProti NX_P13535.
Orphaneti 319340. Carney complex-trismus-pseudocamptodactyly syndrome.
3377. Trismus - pseudocamptodactyly.
PharmGKBi PA31376.
GenAtlasi Search...

Phylogenomic databases

HOGENOMi HOG000173959.
HOVERGENi HBG004704.
InParanoidi P13535.
KOi K10352.
OMAi QLKRNHT.
OrthoDBi EOG7RBZ7G.
PhylomeDBi P13535.
TreeFami TF314375.

Enzyme and pathway databases

Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

GeneWikii MYH8.
GenomeRNAii 4626.
NextBioi 17806.
PROi P13535.
SOURCEi Search...

Gene expression databases

Bgeei P13535.
CleanExi HS_MYH8.
Genevestigatori P13535.

Family and domain databases

Gene3Di 4.10.270.10. 1 hit.
InterProi IPR000048. 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 ]
Pfami PF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 147 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

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