P13535 (MYH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myosin-8

Alternative name(s):
Myosin heavy chain 8
Myosin heavy chain, skeletal muscle, perinatal
Short name=MyHC-perinatal

Gene names

Name:

MYH8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1937 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › myofibril. 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	Contains 1 IQ domain. Contains 1 myosin head-like domain.

Ontologies

Keywords
Cellular component	Cytoplasm Thick filament
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Coiled coil
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Muscle protein Myosin
PTM	Methylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle filament sliding Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome focal adhesion Inferred from direct assay. Source: HPA muscle myosin complex Non-traceable author statement Ref.4. Source: UniProtKB myofibril Inferred from electronic annotation. Source: UniProtKB-SubCell myosin filament Inferred from electronic annotation. Source: UniProtKB-KW nucleolus Inferred from direct assay. Source: HPA
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW motor activity Inferred from electronic annotation. Source: InterPro structural constituent of muscle Non-traceable author statement Ref.4. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1937	1937	Myosin-8		PRO_0000123413
Regions
	Domain	1 – 780	780	Myosin head-like
	Domain	781 – 813	33	IQ
	Nucleotide binding	181 – 188	8	ATP
	Region	658 – 680	23	Actin-binding
	Region	760 – 774	15	Actin-binding
	Coiled coil	842 – 1937	1096	Potential
Amino acid modifications
	Modified residue	132	1	N6,N6,N6-trimethyllysine Potential
	Modified residue	951	1	Phosphoserine By similarity
	Modified residue	1202	1	Phosphoserine By similarity
Natural variations
	Natural variant	326	1	I → T. Corresponds to variant rs34124921 [ dbSNP | Ensembl ].		VAR_050202
	Natural variant	636	1	A → V. Corresponds to variant rs34693726 [ dbSNP | Ensembl ].		VAR_050203
	Natural variant	674	1	R → Q in CACOV and DA7. Ref.6 Ref.7 Corresponds to variant rs28932773 [ dbSNP | Ensembl ].		VAR_019810
	Natural variant	924	1	E → G. Corresponds to variant rs4372733 [ dbSNP | Ensembl ].		VAR_030207
	Natural variant	1229	1	M → T. Corresponds to variant rs35962914 [ dbSNP | Ensembl ].		VAR_050204
	Natural variant	1261	1	E → G. Ref.1 Ref.4 Corresponds to variant rs1063926 [ dbSNP | Ensembl ].		VAR_030208
	Natural variant	1692	1	W → R. Corresponds to variant rs8069834 [ dbSNP | Ensembl ].		VAR_030209
Experimental info
	Sequence conflict	15	1	A → R in CAA86293. Ref.2
	Sequence conflict	970	1	E → Q Ref.1
	Sequence conflict	970	1	E → Q Ref.4
	Sequence conflict	1072	1	M → N in CAA35941. Ref.3
	Sequence conflict	1247	1	N → H Ref.1
	Sequence conflict	1247	1	N → H Ref.4
	Sequence conflict	1251 – 1252	2	MC → DGG in CAA35941. Ref.3
	Sequence conflict	1297	1	K → Q Ref.1
	Sequence conflict	1297	1	K → Q Ref.4
	Sequence conflict	1377 – 1378	2	KY → NT in CAA35941. Ref.3
	Sequence conflict	1504 – 1505	2	EN → AH Ref.1
	Sequence conflict	1504 – 1505	2	EN → AH Ref.4
	Sequence conflict	1847	1	E → D Ref.1
	Sequence conflict	1847	1	E → D Ref.4
	Sequence conflict	1914	1	D → H in CAA86293. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P13535 [UniParc]. Last modified July 15, 1998. Version 3. Checksum: A3EE2D151792E9E8	FASTA	1,937	222,763
	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

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.

Web resources

GeneReviews

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.
IPI	IPI00302329.
PIR	I38055.
RefSeq	NP_002463.2. NM_002472.2.
UniGene	Hs.700484.
3D structure databases
ProteinModelPortal	P13535.
ModBase	Search...
Protein-protein interaction databases
IntAct	P13535. 1 interaction.
STRING	9606.ENSP00000252173.
PTM databases
PhosphoSite	P13535.
Polymorphism databases
DMDM	3041707.
Proteomic databases
PRIDE	P13535.
Protocols and materials databases
DNASU	4626.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000403437; ENSP00000384330; ENSG00000133020.
GeneID	4626.
KEGG	hsa:4626.
UCSC	uc002gmm.2. human.
Organism-specific databases
CTD	4626.
GeneCards	GC17M010293.
H-InvDB	HIX0039253.
HGNC	HGNC:7578. MYH8.
HPA	CAB016527. HPA001239. HPA001349.
MIM	158300. phenotype. 160741. gene. 608837. phenotype.
neXtProt	NX_P13535.
Orphanet	1359. Carney complex. 3377. Trismus - pseudocamptodactyly.
PharmGKB	PA31376.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000173959.
HOVERGEN	HBG004704.
InParanoid	P13535.
KO	K10352.
OMA	QLKRNHT.
OrthoDB	EOG43N7BR.
PhylomeDB	P13535.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
Bgee	P13535.
CleanEx	HS_MYH8.
Genevestigator	P13535.
GermOnline	ENSG00000133020. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR015650. Myosin_1/23/4/7/8/13/15. IPR001609. Myosin_head_motor_dom. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view]
PANTHER	PTHR13140:SF22. PTHR13140:SF22. 1 hit.
Pfam	PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 1 hit. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4626.
NextBio	17806.
SOURCE	Search...

Entry information

Entry name

MYH8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 135 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.