P08590 (MYL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myosin light chain 3

Alternative name(s):
Cardiac myosin light chain 1
Short name=CMLC1
Myosin light chain 1, slow-twitch muscle B/ventricular isoform
Short name=MLC1SB
Ventricular/slow twitch myosin alkali light chain

Gene names

Name:

MYL3

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	195 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Regulatory light chain of myosin. Does not bind calcium.
Subunit structure	Myosin is a hexamer of 2 heavy chains and 4 light chains.
Post-translational modification	The N-terminus is blocked. N-terminus is methylated by METTL11A/NTM1 By similarity. Ref.10
Involvement in disease	Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13
Sequence similarities	Contains 3 EF-hand domains.

Ontologies

Keywords
Disease	Cardiomyopathy Disease mutation
Domain	Repeat
Molecular function	Motor protein Muscle protein Myosin
PTM	Methylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle contraction Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL muscle filament sliding Traceable author statement. Source: Reactome positive regulation of ATPase activity Inferred from sequence or structural similarity PubMed 16675844. Source: BHF-UCL regulation of striated muscle contraction Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL regulation of the force of heart contraction Inferred from mutant phenotype PubMed 16675844. Source: BHF-UCL skeletal muscle tissue development Inferred from electronic annotation. Source: Compara ventricular cardiac muscle tissue morphogenesis Inferred from mutant phenotype PubMed 16754800Ref.11. Source: BHF-UCL
Cellular_component	A band Inferred from direct assay PubMed 16675844. Source: BHF-UCL I band Inferred from direct assay PubMed 16675844. Source: BHF-UCL cytosol Traceable author statement. Source: Reactome muscle myosin complex Traceable author statement Ref.4. Source: ProtInc
Molecular_function	actin monomer binding Inferred from direct assay PubMed 16675844. Source: BHF-UCL calcium ion binding Inferred from electronic annotation. Source: InterPro motor activity Inferred from electronic annotation. Source: Compara myosin II heavy chain binding Non-traceable author statement PubMed 16675844. Source: BHF-UCL structural constituent of muscle Traceable author statement Ref.4. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 195	194	Myosin light chain 3		PRO_0000198696
Regions
	Domain	49 – 86	38	EF-hand 1
	Domain	128 – 163	36	EF-hand 2
	Domain	163 – 195	33	EF-hand 3
Amino acid modifications
	Modified residue	2	1	N,N,N-trimethylalanine Probable
Natural variations
	Natural variant	56	1	E → G in CMH8. Ref.13		VAR_019842
	Natural variant	143	1	E → K in CMH8; autosomal recessive. Ref.12		VAR_019843
	Natural variant	149	1	M → V in CMH8; with mid-left ventricular chamber thickening. Ref.11		VAR_004599
	Natural variant	154	1	R → H in CMH8; with mid-left ventricular chamber thickening. Ref.11		VAR_004600
Experimental info
	Sequence conflict	171	1	K → R in AAF91089. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P08590 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 306CF328841729DD	FASTA	195	21,932
	10 20 30 40 50 60 MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ IEEFKEAFML 70 80 90 100 110 120 FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR QEELNTKMMD FETFLPMLQH 130 140 150 160 170 180 ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG AELRHVLATL GERLTEDEVE KLMAGQEDSN 190 GCINYEAFVK HIMSS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones." Kurabayashi M., Komuro I., Tsuchimochi H., Takaku F., Yazaki Y. J. Biol. Chem. 263:13930-13936(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1." Hoffmann E., Shi Q.W., Floroff M., Mickle D.A.G., Wu T.-W., Olley P.M., Jackowski G. Nucleic Acids Res. 16:2353-2353(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	Jackowski G. Submitted (MAY-1988) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[4]	"Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location." Fodor W.L., Darras B., Seharaseyon J., Falkenthal S., Francke U., Vanin E.F. J. Biol. Chem. 264:2143-2149(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The sequence of human cardiac myosin light chain I (CMLC-1) from a Chinese patient and the preparation of monoclonal antibody to CHCMLC1." Huang R., Peng B., Zhou G., Gong Z. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle.
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle.
[9]	"The major protein expression profile and two-dimensional protein database of human heart." Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K. Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 20-27; 34-40; 95-100; 124-129; 139-142 AND 155-171. Tissue: Heart.
[10]	"The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins." Henry G.D., Trayer I.P., Brewer S., Levine B.A. Eur. J. Biochem. 148:75-82(1985) [PubMed] [Europe PMC] [Abstract] Cited for: METHYLATION AT ALA-2.
[11]	"Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle." Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D. Nat. Genet. 13:63-69(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CMH8 VAL-149 AND HIS-154.
[12]	"Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology." Olson T.M., Karst M.L., Whitby F.G., Driscoll D.J. Circulation 105:2337-2340(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMH8 LYS-143.
[13]	"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy." Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M. Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMH8 GLY-56.
[14]	Erratum Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M. Circulation 109:3258-3258(2004)
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M24122 mRNA. Translation: AAA59895.1. X07373 mRNA. Translation: CAA30292.1. M24247 , M24242, M24243, M24244, M24245, M24246 Genomic DNA. Translation: AAA59851.1. AF174483 mRNA. Translation: AAF91089.1. AK312044 mRNA. Translation: BAG34981.1. CH471055 Genomic DNA. Translation: EAW64791.1. BC009790 mRNA. Translation: AAH09790.1.
IPI	IPI00243742.
PIR	MOHU3V. B30881.
RefSeq	NP_000249.1. NM_000258.2.
UniGene	Hs.517939.
3D structure databases
ProteinModelPortal	P08590.
ModBase	Search...
Protein-protein interaction databases
IntAct	P08590. 2 interactions.
STRING	9606.ENSP00000292327.
PTM databases
PhosphoSite	P08590.
Polymorphism databases
DMDM	127149.
2D gel databases
UCD-2DPAGE	P08590.
Proteomic databases
PaxDb	P08590.
PRIDE	P08590.
Protocols and materials databases
DNASU	4634.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292327; ENSP00000292327; ENSG00000160808. ENST00000395869; ENSP00000379210; ENSG00000160808.
GeneID	4634.
KEGG	hsa:4634.
UCSC	uc003cql.1. human.
Organism-specific databases
CTD	4634.
GeneCards	GC03M046899.
HGNC	HGNC:7584. MYL3.
HPA	CAB018662. HPA016564.
MIM	160790. gene. 608751. phenotype.
neXtProt	NX_P08590.
Orphanet	155. Familial isolated hypertrophic cardiomyopathy.
PharmGKB	PA31381.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5126.
HOGENOM	HOG000233018.
HOVERGEN	HBG012180.
InParanoid	P08590.
KO	K12749.
OMA	KMMDFDT.
OrthoDB	EOG483D5S.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P08590.
Bgee	P08590.
CleanEx	HS_MYL3.
Genevestigator	P08590.
GermOnline	ENSG00000160808. Homo sapiens.
Family and domain databases
Gene3D	1.10.238.10. 2 hits.
InterPro	IPR011992. EF-hand-like_dom. IPR002048. EF_hand_dom. [Graphical view]
PROSITE	PS50222. EF_HAND_2. 3 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MYL3. human.
GenomeRNAi	4634.
NextBio	17840.
PMAP-CutDB	P08590.
SOURCE	Search...

Entry information

Entry name

MYL3_HUMAN

Accession

Primary (citable) accession number: P08590
Secondary accession number(s): B2R534, Q9NRS8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 133 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.