Human Gene MYL4 (uc002ilg.3)
  Description: Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.
RefSeq Summary (NM_001002841): Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:45,286,428-45,301,045 Size: 14,618 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr17:45,286,789-45,300,408 Size: 13,620 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:45,286,428-45,301,045)mRNA (may differ from genome)Protein (197 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MalacardsMGIneXtProtOMIMPubMedReactome
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYL4_HUMAN
DESCRIPTION: RecName: Full=Myosin light chain 4; AltName: Full=Myosin light chain 1, embryonic muscle/atrial isoform; AltName: Full=Myosin light chain alkali GT-1 isoform;
FUNCTION: Regulatory light chain of myosin. Does not bind calcium.
SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
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): MYL4
CDC HuGE Published Literature: MYL4
Positive Disease Associations: Forced Expiratory Volume , Waist-Hip Ratio
Related Studies:
  1. Forced Expiratory Volume
    , , . [PubMed 0]
  2. Waist-Hip Ratio
    , , . [PubMed 0]
  3. Waist-Hip Ratio
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MYL4
Diseases sorted by gene-association score: atrial fibrillation, familial, 18* (1279), familial atrial fibrillation* (774), myl4-related familial atrial fibrillation* (500), atrial fibrillation (12), herpes gestationis (6), aortic valve disease 2 (4)
* = Manually curated disease association

-  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: 1639.13 RPKM in Heart - Atrial Appendage
Total median expression: 1703.50 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 -31.60128-0.247 Picture PostScript Text
3' UTR -73.10186-0.393 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

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on P12829
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003785 actin monomer binding
GO:0005509 calcium ion binding
GO:0032038 myosin II heavy chain binding
GO:0051015 actin filament binding

Biological Process:
GO:0002026 regulation of the force of heart contraction
GO:0030049 muscle filament sliding
GO:0032781 positive regulation of ATPase activity
GO:0060048 cardiac muscle contraction

Cellular Component:
GO:0005829 cytosol
GO:0016459 myosin complex
GO:0031672 A band


-  Descriptions from all associated GenBank mRNAs
  LP896053 - Sequence 917 from Patent EP3253886.
X52005 - H.sapiens skeletal embryonic myosin light chain 1 (MLC1) mRNA.
BC030228 - Homo sapiens myosin, light chain 4, alkali; atrial, embryonic, mRNA (cDNA clone MGC:34523 IMAGE:5226518), complete cds.
M24121 - Human myosin alkali light chain (atrial) mRNA, complete cds.
E02081 - cDNA encoding human atrial myosin light chain I.
M36172 - Human embryonic myosin alkali light chain (MLC1) mRNA, complete cds.
X13955 - Human mRNA for myosin alkali light chain.
JD490270 - Sequence 471294 from Patent EP1572962.
AF116676 - Homo sapiens PRO1957 mRNA, complete cds.
JD379958 - Sequence 360982 from Patent EP1572962.
AB528188 - Synthetic construct DNA, clone: pF1KE0473, Homo sapiens MYL4 gene for myosin, light chain 4, alkali, without stop codon, in Flexi system.
AM392536 - Synthetic construct Homo sapiens clone IMAGE:100002645 for hypothetical protein (MYL4 gene).
AM393643 - Synthetic construct Homo sapiens clone IMAGE:100002644 for hypothetical protein (MYL4 gene).
AM393677 - Synthetic construct Homo sapiens clone IMAGE:100002643 for hypothetical protein (MYL4 gene).
AM392523 - Synthetic construct Homo sapiens clone IMAGE:100002906 for hypothetical protein (MYL4 gene).
AM392902 - Synthetic construct Homo sapiens clone IMAGE:100002905 for hypothetical protein (MYL4 gene).
JD371454 - Sequence 352478 from Patent EP1572962.
M20641 - Human alkali myosin light chain (AMLC) encoding GT-1 protein, partial cds.
JD281271 - Sequence 262295 from Patent EP1572962.
JD410438 - Sequence 391462 from Patent EP1572962.

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

Protein P12829 (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: D3DXJ7, MLC1, MYL4_HUMAN, NM_001002841, NP_002467, P11783, P12829, PRO1957
UCSC ID: uc002ilg.3
RefSeq Accession: NM_001002841
Protein: P12829 (aka MYL4_HUMAN)
CCDS: CCDS11510.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001002841.1
exon count: 8CDS single in 3' UTR: no RNA size: 934
ORF size: 594CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1382.00frame shift in genome: no % Coverage: 97.22
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.