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P08590

- MYL3_HUMAN

UniProt

P08590 - MYL3_HUMAN

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Protein

Myosin light chain 3

Gene
MYL3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regulatory light chain of myosin. Does not bind calcium.

GO - Molecular functioni

  1. actin monomer binding Source: BHF-UCL
  2. calcium ion binding Source: InterPro
  3. motor activity Source: Ensembl
  4. myosin II heavy chain binding Source: BHF-UCL
  5. structural constituent of muscle Source: ProtInc

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. muscle filament sliding Source: Reactome
  3. positive regulation of ATPase activity Source: BHF-UCL
  4. regulation of striated muscle contraction Source: BHF-UCL
  5. regulation of the force of heart contraction Source: BHF-UCL
  6. skeletal muscle tissue development Source: Ensembl
  7. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
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 namesi
Name:MYL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:7584. MYL3.

Subcellular locationi

GO - Cellular componenti

  1. A band Source: BHF-UCL
  2. cytosol Source: Reactome
  3. I band Source: BHF-UCL
  4. muscle myosin complex Source: ProtInc
  5. sarcomere Source: BHF-UCL
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561E → G in CMH8. 1 Publication
VAR_019842
Natural varianti143 – 1431E → K in CMH8; autosomal recessive. 1 Publication
VAR_019843
Natural varianti149 – 1491M → V in CMH8; with mid-left ventricular chamber thickening. 1 Publication
VAR_004599
Natural varianti154 – 1541R → H in CMH8; with mid-left ventricular chamber thickening. 1 Publication
VAR_004600

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi608751. phenotype.
Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA31381.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 195194Myosin light chain 3PRO_0000198696Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N,N,N-trimethylalanine Inferred

Post-translational modificationi

The N-terminus is blocked.
N-terminus is methylated by METTL11A/NTM1 By similarity.1 Publication

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiP08590.
PaxDbiP08590.
PRIDEiP08590.

2D gel databases

UCD-2DPAGEP08590.

PTM databases

PhosphoSiteiP08590.

Miscellaneous databases

PMAP-CutDBP08590.

Expressioni

Gene expression databases

ArrayExpressiP08590.
BgeeiP08590.
CleanExiHS_MYL3.
GenevestigatoriP08590.

Organism-specific databases

HPAiCAB018662.
HPA016564.

Interactioni

Subunit structurei

Myosin is a hexamer of 2 heavy chains and 4 light chains.

Protein-protein interaction databases

BioGridi110718. 5 interactions.
IntActiP08590. 4 interactions.
STRINGi9606.ENSP00000292327.

Structurei

3D structure databases

ProteinModelPortaliP08590.
SMRiP08590. Positions 49-194.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 8638EF-hand 1Add
BLAST
Domaini128 – 16336EF-hand 2Add
BLAST
Domaini163 – 19533EF-hand 3Add
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5126.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiP08590.
KOiK12749.
OMAiGRPKQEE.
OrthoDBiEOG7HQN9N.
PhylomeDBiP08590.
TreeFamiTF351553.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P08590-1 [UniParc]FASTAAdd to Basket

« Hide

MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ    50
IEEFKEAFML FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR 100
QEELNTKMMD FETFLPMLQH ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG 150
AELRHVLATL GERLTEDEVE KLMAGQEDSN GCINYEAFVK HIMSS 195
Length:195
Mass (Da):21,932
Last modified:January 23, 2007 - v3
Checksum:i306CF328841729DD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561E → G in CMH8. 1 Publication
VAR_019842
Natural varianti143 – 1431E → K in CMH8; autosomal recessive. 1 Publication
VAR_019843
Natural varianti149 – 1491M → V in CMH8; with mid-left ventricular chamber thickening. 1 Publication
VAR_004599
Natural varianti154 – 1541R → H in CMH8; with mid-left ventricular chamber thickening. 1 Publication
VAR_004600

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti171 – 1711K → R in AAF91089. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2746.1.
PIRiB30881. MOHU3V.
RefSeqiNP_000249.1. NM_000258.2.
UniGeneiHs.517939.

Genome annotation databases

EnsembliENST00000292327; ENSP00000292327; ENSG00000160808.
ENST00000395869; ENSP00000379210; ENSG00000160808.
GeneIDi4634.
KEGGihsa:4634.
UCSCiuc003cql.1. human.

Polymorphism databases

DMDMi127149.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2746.1.
PIRi B30881. MOHU3V.
RefSeqi NP_000249.1. NM_000258.2.
UniGenei Hs.517939.

3D structure databases

ProteinModelPortali P08590.
SMRi P08590. Positions 49-194.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110718. 5 interactions.
IntActi P08590. 4 interactions.
STRINGi 9606.ENSP00000292327.

PTM databases

PhosphoSitei P08590.

Polymorphism databases

DMDMi 127149.

2D gel databases

UCD-2DPAGE P08590.

Proteomic databases

MaxQBi P08590.
PaxDbi P08590.
PRIDEi P08590.

Protocols and materials databases

DNASUi 4634.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000292327 ; ENSP00000292327 ; ENSG00000160808 .
ENST00000395869 ; ENSP00000379210 ; ENSG00000160808 .
GeneIDi 4634.
KEGGi hsa:4634.
UCSCi uc003cql.1. human.

Organism-specific databases

CTDi 4634.
GeneCardsi GC03M046899.
GeneReviewsi MYL3.
HGNCi HGNC:7584. MYL3.
HPAi CAB018662.
HPA016564.
MIMi 160790. gene.
608751. phenotype.
neXtProti NX_P08590.
Orphaneti 155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA31381.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5126.
HOGENOMi HOG000233018.
HOVERGENi HBG012180.
InParanoidi P08590.
KOi K12749.
OMAi GRPKQEE.
OrthoDBi EOG7HQN9N.
PhylomeDBi P08590.
TreeFami TF351553.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi MYL3. human.
GeneWikii MYL3.
GenomeRNAii 4634.
NextBioi 17840.
PMAP-CutDB P08590.
PROi P08590.
SOURCEi Search...

Gene expression databases

ArrayExpressi P08590.
Bgeei P08590.
CleanExi HS_MYL3.
Genevestigatori P08590.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
InterProi IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view ]
PROSITEi PS50222. EF_HAND_2. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiMYL3_HUMAN
AccessioniPrimary (citable) accession number: P08590
Secondary accession number(s): B2R534, Q9NRS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 144 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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

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