Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P13535

- MYH8_HUMAN

UniProt

P13535 - MYH8_HUMAN

Protein

Myosin-8

Gene

MYH8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 3 (15 Jul 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Muscle contraction.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi181 – 1888ATP

    GO - Molecular functioni

    1. actin filament binding Source: BHF-UCL
    2. ATPase activity Source: BHF-UCL
    3. ATP 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

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-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.
    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.
    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

    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

    « Hide

    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

    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:
    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...
    MobiDBi 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: October 1, 2014
    This is version 148 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