Reviewed, UniProtKB/Swiss-Prot P35749 (MYH11_HUMAN)

Names and origin

Protein names

Recommended name:
    Myosin-11
Alternative name(s):
    Myosin heavy chain 11
    Myosin heavy chain, smooth muscle isoform
    SMMHC

Gene names

Name:	MYH11
Synonyms:	KIAA0866

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1972 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Melanosome. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. Ref.6
Tissue specificity	Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea.
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.
Involvement in disease	A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11. Defects in MYH11 are the cause of aortic aneurysm familial thoracic type 4 (AAT4) [MIM:132900]; also known as familial thoracic aortic aneurysm and dissection (TAAD). Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. Patients with AAT4 show marked aortic stiffness. Pathological aortas show large areas of medial degeneration with very low smooth muscle cells content. Ref.10
Miscellaneous	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 similarities	Contains 1 IQ domain. Contains 1 myosin head-like domain.

Ontologies

Keywords
Cellular component	Thick filament
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Disease	Aortic aneurysm Disease mutation Proto-oncogene
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
Gene Ontology (GO)
Biological process	cardiac muscle fiber development Ref.10 Inferred from mutant phenotype. Source: UniProtKB elastic fiber assembly Ref.10 Inferred from mutant phenotype. Source: UniProtKB muscle thick filament assembly Inferred from sequence or structural similarity. Source: UniProtKB smooth muscle contraction Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	melanosome Inferred from electronic annotation. Source: UniProtKB-SubCell muscle myosin complex Ref.4 Traceable author statement. Source: ProtInc myosin filament Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW actin binding Inferred from electronic annotation. Source: UniProtKB-KW calmodulin binding Inferred from electronic annotation. Source: UniProtKB-KW motor activity Inferred from electronic annotation. Source: UniProtKB-KW structural constituent of muscle Ref.10 Inferred from mutant phenotype. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1972	1972	Myosin-11		PRO_0000123424
Regions
	Domain	1 – 785	785	Myosin head-like
	Domain	786 – 815	30	IQ
	Nucleotide binding	178 – 185	8	ATP Potential
	Region	661 – 683	23	Actin-binding By similarity
	Region	762 – 776	15	Actin-binding By similarity
	Region	1935 – 1972	38	Carboxyl-terminal
	Coiled coil	844 – 1934	1091	Potential
Amino acid modifications
	Modified residue	129	1	N6,N6,N6-trimethyllysine Potential
	Modified residue	1539	1	Phosphothreonine Ref.7
	Modified residue	1546	1	Phosphothreonine Ref.7
	Modified residue	1954	1	Phosphoserine Ref.8
Natural variations
	Natural variant	1104	1	A → T: dbSNP rs34263860.		VAR_050205
	Natural variant	1234	1	A → T: dbSNP rs16967494.		VAR_030239
	Natural variant	1241 – 1264	24	Missing in AAT4.		VAR_031734
	Natural variant	1289	1	V → A: dbSNP rs16967510.		VAR_030240
	Natural variant	1310	1	V → M: dbSNP rs7196804.		VAR_030241
	Natural variant	1508	1	M → V: dbSNP rs35176378.		VAR_050206
	Natural variant	1758	1	R → Q in AAT4. Ref.10		VAR_031735
Experimental info
	Sequence conflict	887 – 889	3	EEK → NSE Ref.4
	Sequence conflict	1558	1	T → S Ref.4
	Sequence conflict	1610 – 1611	2	KQ → NE Ref.4
	Sequence conflict	1786	1	A → S in CAA49154. Ref.5
	Sequence conflict	1958	1	T → L Ref.4

Sequences

	Sequence		Length	Mass (Da)
	P35749-1 [UniParc]. Last modified April 27, 2001. Version 3. Checksum: 67665BB2AECE1277	FASTA	1,972	227,339
	10 20 30 40 50 60 MAQKGQLSDD EKFLFVDKNF INSPVAQADW AAKRLVWVPS EKQGFEAASI KEEKGDEVVV 70 80 90 100 110 120 ELVENGKKVT VGKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLRERYF SGLIYTYSGL 130 140 150 160 170 180 FCVVVNPYKH LPIYSEKIVD MYKGKKRHEM PPHIYAIADT AYRSMLQDRE DQSILCTGES 190 200 210 220 230 240 GAGKTENTKK VIQYLAVVAS SHKGKKDTSI TGELEKQLLQ ANPILEAFGN AKTVKNDNSS 250 260 270 280 290 300 RFGKFIRINF DVTGYIVGAN IETYLLEKSR AIRQARDERT FHIFYYMIAG AKEKMRSDLL 310 320 330 340 350 360 LEGFNNYTFL SNGFVPIPAA QDDEMFQETV EAMAIMGFSE EEQLSILKVV SSVLQLGNIV 370 380 390 400 410 420 FKKERNTDQA SMPDNTAAQK VCHLMGINVT DFTRSILTPR IKVGRDVVQK AQTKEQADFA 430 440 450 460 470 480 VEALAKATYE RLFRWILTRV NKALDKTHRQ GASFLGILDI AGFEIFEVNS FEQLCINYTN 490 500 510 520 530 540 EKLQQLFNHT MFILEQEEYQ REGIEWNFID FGLDLQPCIE LIERPNNPPG VLALLDEECW 550 560 570 580 590 600 FPKATDKSFV EKLCTEQGSH PKFQKPKQLK DKTEFSIIHY AGKVDYNASA WLTKNMDPLN 610 620 630 640 650 660 DNVTSLLNAS SDKFVADLWK DVDRIVGLDQ MAKMTESSLP SASKTKKGMF RTVGQLYKEQ 670 680 690 700 710 720 LGKLMTTLRN TTPNFVRCII PNHEKRSGKL DAFLVLEQLR CNGVLEGIRI CRQGFPNRIV 730 740 750 760 770 780 FQEFRQRYEI LAANAIPKGF MDGKQACILM IKALELDPNL YRIGQSKIFF RTGVLAHLEE 790 800 810 820 830 840 ERDLKITDVI MAFQAMCRGY LARKAFAKRQ QQLTAMKVIQ RNCAAYLKLR NWQWWRLFTK 850 860 870 880 890 900 VKPLLQVTRQ EEEMQAKEDE LQKTKERQQK AENELKELEQ KHSQLTEEKN LLQEQLQAET 910 920 930 940 950 960 ELYAEAEEMR VRLAAKKQEL EEILHEMEAR LEEEEDRGQQ LQAERKKMAQ QMLDLEEQLE 970 980 990 1000 1010 1020 EEEAARQKLQ LEKVTAEAKI KKLEDEILVM DDQNNKLSKE RKLLEERISD LTTNLAEEEE 1030 1040 1050 1060 1070 1080 KAKNLTKLKN KHESMISELE VRLKKEEKSR QELEKLKRKL EGDASDFHEQ IADLQAQIAE 1090 1100 1110 1120 1130 1140 LKMQLAKKEE ELQAALARLD DEIAQKNNAL KKIRELEGHI SDLQEDLDSE RAARNKAEKQ 1150 1160 1170 1180 1190 1200 KRDLGEELEA LKTELEDTLD STATQQELRA KREQEVTVLK KALDEETRSH EAQVQEMRQK 1210 1220 1230 1240 1250 1260 HAQAVEELTE QLEQFKRAKA NLDKNKQTLE KENADLAGEL RVLGQAKQEV EHKKKKLEAQ 1270 1280 1290 1300 1310 1320 VQELQSKCSD GERARAELND KVHKLQNEVE SVTGMLNEAE GKAIKLAKDV ASLSSQLQDT 1330 1340 1350 1360 1370 1380 QELLQEETRQ KLNVSTKLRQ LEEERNSLQD QLDEEMEAKQ NLERHISTLN IQLSDSKKKL 1390 1400 1410 1420 1430 1440 QDFASTVEAL EEGKKRFQKE IENLTQQYEE KAAAYDKLEK TKNRLQQELD DLVVDLDNQR 1450 1460 1470 1480 1490 1500 QLVSNLEKKQ RKFDQLLAEE KNISSKYADE RDRAEAEARE KETKALSLAR ALEEALEAKE 1510 1520 1530 1540 1550 1560 ELERTNKMLK AEMEDLVSSK DDVGKNVHEL EKSKRALETQ MEEMKTQLEE LEDELQATED 1570 1580 1590 1600 1610 1620 AKLRLEVNMQ ALKGQFERDL QARDEQNEEK RRQLQRQLHE YETELEDERK QRALAAAAKK 1630 1640 1650 1660 1670 1680 KLEGDLKDLE LQADSAIKGR EEAIKQLRKL QAQMKDFQRE LEDARASRDE IFATAKENEK 1690 1700 1710 1720 1730 1740 KAKSLEADLM QLQEDLAAAE RARKQADLEK EELAEELASS LSGRNALQDE KRRLEARIAQ 1750 1760 1770 1780 1790 1800 LEEELEEEQG NMEAMSDRVR KATQQAEQLS NELATERSTA QKNESARQQL ERQNKELRSK 1810 1820 1830 1840 1850 1860 LHEMEGAVKS KFKSTIAALE AKIAQLEEQV EQEAREKQAA TKSLKQKDKK LKEILLQVED 1870 1880 1890 1900 1910 1920 ERKMAEQYKE QAEKGNARVK QLKRQLEEAE EESQRINANR RKLQRELDEA TESNEAMGRE 1930 1940 1950 1960 1970 VNALKSKLRR GNETSFVPSR RSGGRRVIEN ADGSEEETDT RDADFNGTKA SE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed: 10493829] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	Nagase T., Kikuno R., Yamakawa H., Ohara O. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[4]	"Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12." Matsuoka R., Yoshida M.C., Furutani Y., Imamura S., Kanda N., Yanagisawa M., Masaki T., Takao A. Am. J. Med. Genet. 46:61-67(1993) [PubMed: 7684189] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 885-1972.
[5]	Okajima K. Submitted (NOV-1992) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1093-1972. Tissue: Hippocampus.
[6]	"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed: 17081065] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[7]	"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment." Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J. J. Proteome Res. 7:5167-5176(2008) [PubMed: 19367720] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1539 AND THR-1546, MASS SPECTROMETRY. Tissue: T-cell.
[8]	"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1954, MASS SPECTROMETRY. Tissue: Liver.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]	"Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus." Zhu L., Vranckx R., Khau Van Kien P., Lalande A., Boisset N., Mathieu F., Wegman M., Glancy L., Gasc J.-M., Brunotte F., Bruneval P., Wolf J.-E., Michel J.-B., Jeunemaitre X. Nat. Genet. 38:343-349(2006) [PubMed: 16444274] [Abstract] Cited for: VARIANTS AAT4 1241-ARG--LEU-1264 DEL AND GLN-1758.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF001548 Genomic DNA. Translation: AAC31665.1. U91323 Genomic DNA. Translation: AAC35212.1. AB020673 mRNA. Translation: BAA74889.2. Different initiation. D10667 mRNA. No translation available. X69292 mRNA. Translation: CAA49154.1.
IPI	IPI00020501.
RefSeq	NP_002465.1.
UniGene	Hs.460109
3D structure databases
HSSP	HSSP built from PDB template 1BR2 based on UniProtKB P10587.
ModBase	Search...
Protein-protein interaction databases
IntAct	P35749. 3 interactions.
STRING	P35749.
PTM databases
PhosphoSite	P35749.
Proteomic databases
PRIDE	P35749.
Genome annotation databases
Ensembl	ENST00000300036; ENSP00000300036; ENSG00000133392; Homo sapiens. [Genome view] ENST00000338282; ENSP00000345136; ENSG00000133392; Homo sapiens. [Genome view] ENST00000396320; ENSP00000379613; ENSG00000133392; Homo sapiens. [Genome view] ENST00000396324; ENSP00000379616; ENSG00000133392; Homo sapiens. [Genome view] ENST00000452625; ENSP00000407821; ENSG00000133392; Homo sapiens. [Genome view]
GeneID	4629.
UCSC	uc002ddy.1. human.
Organism-specific databases
CTD	4629.
GeneCards	GC16M015704.
HGNC	HGNC:7569. MYH11.
HPA	CAB002302. HPA014539. HPA015310.
MIM	132900. phenotype. 160745. gene.
Orphanet	229. Familial aortic dissection. 98829. Leukemia, myeloid, acute, with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22). 91387. Thoracic aortic aneurysm, familial form.
PharmGKB	PA31367.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P35749.
Enzyme and pathway databases
Reactome	REACT_18266. Axon guidance.
Gene expression databases
ArrayExpress	P35749.
Bgee	P35749.
CleanEx	HS_MYH11.
Genevestigator	P35749.
GermOnline	ENSG00000133392. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_CaM_bd_region. IPR001609. Myosin_head. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view]
Pfam	PF00612. IQ. 1 hit. PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
ProDom	PD000355. Myosin_head. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00015. IQ. 1 hit. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	17818.
SOURCE	Search...

Entry information

Entry name

MYH11_HUMAN

Accession

Primary (citable) accession number: P35749
Secondary accession number(s): O00396, O94944, P78422

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	April 27, 2001
Last modified:	November 3, 2009
This is version 105 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.