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P13535 (MYH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-8
Alternative name(s):
Myosin heavy chain 8
Myosin heavy chain, skeletal muscle, perinatal
Short name=MyHC-perinatal
Gene names
Name:MYH8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1937 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Muscle contraction.

Subunit structure

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).

Subcellular location

Cytoplasmmyofibril. Note: Thick filaments of the myofibrils.

Domain

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).

Involvement in disease

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. Ref.6

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. Ref.6 Ref.7

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Contains 1 IQ domain.

Contains 1 myosin motor domain.

Ontologies

Keywords
   Cellular componentCytoplasm
Thick filament
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCoiled coil
   LigandActin-binding
ATP-binding
Calmodulin-binding
Nucleotide-binding
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMMethylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

muscle contraction

Non-traceable author statement Ref.4. Source: UniProtKB

muscle filament sliding

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

skeletal muscle contraction

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 21370490. Source: BHF-UCL

cytosol

Traceable author statement. Source: Reactome

muscle myosin complex

Non-traceable author statement Ref.4. Source: UniProtKB

myosin filament

Inferred by curator PubMed 17041932. Source: BHF-UCL

sarcomere

Inferred by curator PubMed 17041932. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

ATPase activity

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

actin filament binding

Traceable author statement Ref.1. Source: BHF-UCL

microfilament motor activity

Inferred from mutant phenotype PubMed 17041932. Source: BHF-UCL

myosin light chain binding

Traceable author statement Ref.1. Source: BHF-UCL

structural constituent of muscle

Non-traceable author statement Ref.4. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19371937Myosin-8
PRO_0000123413

Regions

Domain88 – 781694Myosin motor
Domain781 – 81333IQ
Nucleotide binding181 – 1888ATP
Region658 – 68023Actin-binding
Region760 – 77415Actin-binding
Coiled coil842 – 19371096 Potential

Amino acid modifications

Modified residue1321N6,N6,N6-trimethyllysine Potential

Natural variations

Natural variant3261I → T.
Corresponds to variant rs34124921 [ dbSNP | Ensembl ].
VAR_050202
Natural variant6361A → V.
Corresponds to variant rs34693726 [ dbSNP | Ensembl ].
VAR_050203
Natural variant6741R → Q in CACOV and DA7. Ref.6 Ref.7
Corresponds to variant rs28932773 [ dbSNP | Ensembl ].
VAR_019810
Natural variant9241E → G.
Corresponds to variant rs4372733 [ dbSNP | Ensembl ].
VAR_030207
Natural variant12291M → T.
Corresponds to variant rs35962914 [ dbSNP | Ensembl ].
VAR_050204
Natural variant12611E → G. Ref.1 Ref.4
Corresponds to variant rs1063926 [ dbSNP | Ensembl ].
VAR_030208
Natural variant16921W → R.
Corresponds to variant rs8069834 [ dbSNP | Ensembl ].
VAR_030209

Experimental info

Sequence conflict151A → R in CAA86293. Ref.2
Sequence conflict9701E → Q Ref.1
Sequence conflict9701E → Q Ref.4
Sequence conflict10721M → N in CAA35941. Ref.3
Sequence conflict12471N → H Ref.1
Sequence conflict12471N → H Ref.4
Sequence conflict1251 – 12522MC → DGG in CAA35941. Ref.3
Sequence conflict12971K → Q Ref.1
Sequence conflict12971K → Q Ref.4
Sequence conflict1377 – 13782KY → NT in CAA35941. Ref.3
Sequence conflict1504 – 15052EN → AH Ref.1
Sequence conflict1504 – 15052EN → AH Ref.4
Sequence conflict18471E → D Ref.1
Sequence conflict18471E → D Ref.4
Sequence conflict19141D → H in CAA86293. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P13535 [UniParc].

Last modified July 15, 1998. Version 3.
Checksum: A3EE2D151792E9E8

FASTA1,937222,763
        10         20         30         40         50         60 
MSASSDAEMA VFGEAAPYLR KSEKERIEAQ NKPFDAKTSV FVAEPKESYV KSTIQSKEGG 

        70         80         90        100        110        120 
KVTVKTEGGA TLTVREDQVF PMNPPKYDKI EDMAMMTHLH EPGVLYNLKE RYAAWMIYTY 

       130        140        150        160        170        180 
SGLFCVTVNP YKWLPVYKPE VVAAYRGKKR QEAPPHIFSI SDNAYQFMLT DRENQSILIT 

       190        200        210        220        230        240 
GESGAGKTVN TKRVIQYFAT IAVTGEKKKD ESGKMQGTLE DQIISANPLL EAFGNAKTVR 

       250        260        270        280        290        300 
NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QITSNKKPDL 

       310        320        330        340        350        360 
IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAID ILGFTPEEKV SIYKLTGAVM 

       370        380        390        400        410        420 
HYGNMKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK ALCYPRVKVG NEYVTKGQTV 

       430        440        450        460        470        480 
QQVYNAVGAL AKAVYEKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC 

       490        500        510        520        530        540 
INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP LGIFSILEEE 

       550        560        570        580        590        600 
CMFPKATDTS FKNKLYDQHL GKSANFQKPK VVKGKAEAHF SLIHYAGTVD YNITGWLDKN 

       610        620        630        640        650        660 
KDPLNDTVVG LYQKSAMKTL ASLFSTYASA EADSSAKKGA KKKGSSFQTV SALFRENLNK 

       670        680        690        700        710        720 
LMTNLRSTHP HFVRCIIPNE TKTPGAMEHE LVLHQLRCNG VLEGIRICRK GFPSRILYGD 

       730        740        750        760        770        780 
FKQRYKVLNA SAIPEGQFID SKKASEKLLA SIDIDHTQYK FGHTKVFFKA GLLGLLEEMR 

       790        800        810        820        830        840 
DEKLAQIITR TQAVCRGFLM RVEYQKMLQR REALFCIQYN VRAFMNVKHW PWMKLFFKIK 

       850        860        870        880        890        900 
PLLKSAETEK EMATMKEEFQ KTKDELAKSE AKRKELEEKM VTLLKEKNDL QLQVQSEADS 

       910        920        930        940        950        960 
LADAEERCEQ LIKNKIQLEA KIKEVTERAE EEEEINAELT AKKRKLEDEC SELKKDIDDL 

       970        980        990       1000       1010       1020 
ELTLAKVEKE KHATENKVKN LTEEMAGLDE TIAKLSKEKK ALQETHQQTL DDLQAEEDKV 

      1030       1040       1050       1060       1070       1080 
NILTKAKTKL EQQVDDLEGS LEQEKKLRMD LERAKRKLEG DLKLAQESTM DMENDKQQLD 

      1090       1100       1110       1120       1130       1140 
EKLEKKEFEI SNLISKIEDE QAVEIQLQKK IKELQARIEE LGEEIEAERA SRAKAEKQRS 

      1150       1160       1170       1180       1190       1200 
DLSRELEEIS ERLEEAGGAT SAQVELNKKR EAEFQKLRRD LEEATLQHEA MVAALRKKHA 

      1210       1220       1230       1240       1250       1260 
DSMAELGEQI DNLQRVKQKL EKEKSELKME TDDLSSNAEA ISKAKGNLEK MCRSLEDQVS 

      1270       1280       1290       1300       1310       1320 
ELKTKEEEQQ RLINDLTAQR ARLQTEAGEY SRQLDEKDAL VSQLSRSKQA STQQIEELKH 

      1330       1340       1350       1360       1370       1380 
QLEEETKAKN ALAHALQSSR HDCDLLREQY EEEQEGKAEL QRALSKANSE VAQWRTKYET 

      1390       1400       1410       1420       1430       1440 
DAIQRTEELE EAKKKLAQRL QEAEEHVEAV NAKCASLEKT KQRLQNEVED LMLDVERSNA 

      1450       1460       1470       1480       1490       1500 
ACAALDKKQR NFDKVLSEWK QKYEETQAEL EASQKESRSL STELFKVKNV YEESLDQLET 

      1510       1520       1530       1540       1550       1560 
LRRENKNLQQ EISDLTEQIA EGGKQIHELE KIKKQVEQEK CEIQAALEEA EASLEHEEGK 

      1570       1580       1590       1600       1610       1620 
ILRIQLELNQ VKSEVDRKIA EKDEEIDQLK RNHTRVVETM QSTLDAEIRS RNDALRVKKK 

      1630       1640       1650       1660       1670       1680 
MEGDLNEMEI QLNHANRLAA ESLRNYRNTQ GILKETQLHL DDALRGQEDL KEQLAIVERR 

      1690       1700       1710       1720       1730       1740 
ANLLQAEIEE LWATLEQTER SRKIAEQELL DASERVQLLH TQNTSLINTK KKLENDVSQL 

      1750       1760       1770       1780       1790       1800 
QSEVEEVIQE SRNAEEKAKK AITDAAMMAE ELKKEQDTSA HLERMKKNLE QTVKDLQHRL 

      1810       1820       1830       1840       1850       1860 
DEAEQLALKG GKKQIQKLEA RVRELEGEVE NEQKRNAEAV KGLRKHERRV KELTYQTEED 

      1870       1880       1890       1900       1910       1920 
RKNVLRLQDL VDKLQAKVKS YKRQAEEAEE QSNANLSKFR KLQHELEEAE ERADIAESQV 

      1930 
NKLRVKSREV HTKISAE 

« Hide

References

[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]"Characterization of a human perinatal myosin heavy-chain transcript."
Jullian E.H., Kelly A.M., Pompidou A.J., Hoffman R., Schiaffino S., Stedman H.H., Rubinstein N.A.
Eur. J. Biochem. 230:1001-1006(1995) [PubMed] [Europe PMC] [Abstract]
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]"Mutation of perinatal myosin heavy chain associated with a Carney complex variant."
Veugelers M., Bressan M., McDermott D.A., Weremowicz S., Morton C.C., Mabry C.C., Lefaivre J.-F., Zunamon A., Destree A., Chaudron J.-M., Basson C.T.
N. Engl. J. Med. 351:460-469(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M36769 mRNA. Translation: AAC17185.1.
Z38133 mRNA. Translation: CAA86293.1.
X51592 mRNA. Translation: CAA35941.1.
AF067143 Genomic DNA. Translation: AAC21557.1.
CCDSCCDS11153.1.
PIRI38055.
RefSeqNP_002463.2. NM_002472.2.
UniGeneHs.700484.

3D structure databases

ProteinModelPortalP13535.
SMRP13535. Positions 6-966.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110711. 1 interaction.
IntActP13535. 1 interaction.
STRING9606.ENSP00000252173.

PTM databases

PhosphoSiteP13535.

Polymorphism databases

DMDM3041707.

Proteomic databases

MaxQBP13535.
PRIDEP13535.

Protocols and materials databases

DNASU4626.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000403437; ENSP00000384330; ENSG00000133020.
GeneID4626.
KEGGhsa:4626.
UCSCuc002gmm.2. human.

Organism-specific databases

CTD4626.
GeneCardsGC17M010293.
H-InvDBHIX0039253.
HGNCHGNC:7578. MYH8.
HPACAB016527.
HPA001239.
HPA001349.
MIM158300. phenotype.
160741. gene.
608837. phenotype.
neXtProtNX_P13535.
Orphanet319340. Carney complex-trismus-pseudocamptodactyly syndrome.
3377. Trismus - pseudocamptodactyly.
PharmGKBPA31376.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000173959.
HOVERGENHBG004704.
InParanoidP13535.
KOK10352.
OMAQLKRNHT.
OrthoDBEOG7RBZ7G.
PhylomeDBP13535.
TreeFamTF314375.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.
REACT_17044. Muscle contraction.

Gene expression databases

BgeeP13535.
CleanExHS_MYH8.
GenevestigatorP13535.

Family and domain databases

Gene3D4.10.270.10. 1 hit.
InterProIPR000048. 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]
PfamPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYH8.
GenomeRNAi4626.
NextBio17806.
PROP13535.
SOURCESearch...

Entry information

Entry nameMYH8_HUMAN
AccessionPrimary (citable) accession number: P13535
Secondary accession number(s): Q14910
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: July 15, 1998
Last modified: July 9, 2014
This is version 146 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM