Human Gene MYL1 (uc002vec.3)
  Description: Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.
RefSeq Summary (NM_079420): Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:211,154,868-211,179,895 Size: 25,028 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr2:211,155,770-211,179,766 Size: 23,997 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:211,154,868-211,179,895)mRNA (may differ from genome)Protein (194 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYL1_HUMAN
DESCRIPTION: RecName: Full=Myosin light chain 1/3, skeletal muscle isoform; Short=MLC1/MLC3; Short=MLC1F/MLC3F; AltName: Full=Myosin light chain alkali 1/2; Short=Myosin light chain A1/A2;
FUNCTION: Regulatory light chain of myosin. Does not bind calcium.
SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
PTM: Isoform MLC3 is acetylated at position 2 (By similarity).
SIMILARITY: Contains 3 EF-hand domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYL1
CDC HuGE Published Literature: MYL1
Positive Disease Associations: Body Height
Related Studies:
  1. Body Height
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1479.93 RPKM in Muscle - Skeletal
Total median expression: 1492.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.59129-0.206 Picture PostScript Text
3' UTR -65.42338-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF13405 - EF-hand domain

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on P05976
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0008307 structural constituent of muscle

Biological Process:
GO:0006936 muscle contraction
GO:0030049 muscle filament sliding
GO:0060048 cardiac muscle contraction

Cellular Component:
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0043292 contractile fiber


-  Descriptions from all associated GenBank mRNAs
  X05451 - Human mRNA for myosin light chain 3 (MLC-3f).
M20643 - Human alkali myosin light chain 3 mRNA, complete cds.
M20642 - Human alkali myosin light chain 1 mRNA, complete cds.
X05450 - Human mRNA for myosin light chain-1 (MLC-1f).
BC005318 - Homo sapiens myosin, light chain 1, alkali; skeletal, fast, mRNA (cDNA clone MGC:12401 IMAGE:3933998), complete cds.
AK311892 - Homo sapiens cDNA, FLJ92158, Homo sapiens myosin, light polypeptide 1, alkali; skeletal, fast(MYL1), transcript variant 3f, mRNA.
AK311942 - Homo sapiens cDNA, FLJ92210, Homo sapiens myosin, light polypeptide 1, alkali; skeletal, fast(MYL1), transcript variant 1f, mRNA.
KJ904512 - Synthetic construct Homo sapiens clone ccsbBroadEn_13906 MYL1 gene, encodes complete protein.
AB527940 - Synthetic construct DNA, clone: pF1KB6852, Homo sapiens MYL1 gene for myosin, light chain 1, alkali, without stop codon, in Flexi system.
CR456869 - Homo sapiens full open reading frame cDNA clone RZPDo834E0815D for gene MYL1, myosin, light polypeptide 1, alkali; skeletal, fast; complete cds, incl. stopcodon.
JD058067 - Sequence 39091 from Patent EP1572962.
JD054200 - Sequence 35224 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P05976 (Reactome details) participates in the following event(s):

R-HSA-390595 Calcium Binds Troponin-C
R-HSA-390598 Myosin Binds ATP
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4N6, B2R4T6, MYL1_HUMAN, NM_079420, NP_524144, P05976, P06741, Q6IBD5
UCSC ID: uc002vec.3
RefSeq Accession: NM_079420
Protein: P05976 (aka MYL1_HUMAN)
CCDS: CCDS2390.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_079420.2
exon count: 7CDS single in 3' UTR: no RNA size: 1052
ORF size: 585CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1220.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.