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MYL1 Gene

protein-coding   GIFtS: 63
GCID: GC02M211118

Myosin, Light Chain 1, Alkali; Skeletal, Fast

(Previous names: myosin, light polypeptide 1, alkali; skeletal, fast)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Light Chain 1, Alkali; Skeletal, Fast1 2     MLC1F2
Myosin, Light Polypeptide 1, Alkali; Skeletal, Fast1 2     MLC3F2
Myosin Light Chain A1/A22 3     A1 Catalytic2
Myosin Light Chain Alkali 1/22 3     A2 Catalytic2
MLC1/MLC32 3     Myosin Light Chain 1/3, Skeletal Muscle Isoform2
MLC1F/MLC3F2 3     

External Ids:    HGNC: 75821   Entrez Gene: 46322   Ensembl: ENSG000001685307   OMIM: 1607805   UniProtKB: P059763   

Export aliases for MYL1 gene to outside databases

Previous GC identifers: GC02M209430 GC02M209879 GC02M211357 GC02M210980 GC02M210863 GC02M203000


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYL1 Gene:
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)

GeneCards Summary for MYL1 Gene:
MYL1 (myosin, light chain 1, alkali; skeletal, fast) is a protein-coding gene. GO annotations related to this gene include structural constituent of muscle and calcium ion binding. An important paralog of this gene is MYL4.

UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976
Function: Regulatory light chain of myosin. Does not bind calcium

summary for MYL1 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYL1 gene promoter:
         ER-alpha   STAT2   STAT1beta   c-Myb   Tal-1beta   STAT1alpha   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYL1 promoter sequence
   Search Chromatin IP Primers for MYL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q33-q34

MYL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M211118:  view genomic region     (about GC identifiers)

Start:
211,154,868 bp from pter      End:
211,179,914 bp from pter
Size:
25,047 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976 (See protein sequence)
Recommended Name: Myosin light chain 1/3, skeletal muscle isoform  
Size: 194 amino acids; 21145 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Secondary accessions: B2R4N6 B2R4T6 P06741 Q6IBD5
Alternative splicing: 2 isoforms:  P05976-1   P05976-2, P06741-1   (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2 (By similarity))

Explore the universe of human proteins at neXtProt for MYL1: NX_P05976

Explore proteomics data for MYL1 at MOPED

Post-translational modifications: 

  • Isoform MLC3 is acetylated at position 2 (By similarity)1
  • Ubiquitination2 at Lys141
  • Modification sites at PhosphoSitePlus

  • See MYL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_524144.1  NP_524146.1  

    ENSEMBL proteins: 
     ENSP00000343321   ENSP00000307280  
    Reactome Protein details: P05976

    MYL1 Human Recombinant Protein Products:

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    antibodies-online antibodies for MYL1 (20 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    2 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry P05976

    ProtoNet protein and cluster: P05976

    UniProtKB/Swiss-Prot: MYL1_HUMAN, P05976
    Similarity: Contains 3 EF-hand domains


    Find genes that share domains with MYL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYL1_HUMAN, P05976
    Function: Regulatory light chain of myosin. Does not bind calcium

         Genatlas biochemistry entry for MYL1:
    myosin,light polypeptide 1,alkali;skeletal,fast,same as MLC1-F & MLC3-F

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008307structural constituent of muscle NAS3904738
         
    Find genes that share ontologies with MYL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MYL1:
     Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Myl1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  mortality/aging 
     muscle  nervous system  normal  skeleton 

    Find genes that share phenotypes with MYL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Myl1tm1Nros for MYL1

       genOway: Develop your customized and physiologically relevant rodent model for MYL1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex NAS3904738
    GO:0030016myofibril IDA8145163
    GO:0030017sarcomere NAS3904738
    GO:0043292contractile fiber ----

    Find genes that share ontologies with MYL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYL1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with MYL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYL1 (see all 16)
        Activation of PKA through GPCR
    RhoA Pathway
    PKA Signaling
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C

    Selected GeneGo (Thomson Reuters) Pathways for MYL1 (see all 8)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Cell adhesion Integrin-mediated cell adhesion and migration
    Inhibitory action of Lipoxins on neutrophil migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    4 BioSystems Pathways for MYL1
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    Striated Muscle Contraction
    Endothelin


    1 Reactome Pathway for MYL1
        Striated Muscle Contraction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYL1
    Interactions:

        Search GeneGlobe Interaction Network for MYL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYL1 (P059763 ENSP000003072804) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    ACTA2P627363, ENSP000002247844I2D: score=1 STRING: ENSP00000224784
    IL7RP168713I2D: score=1 
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction IDA8145163
    GO:0007517muscle organ development ----
    GO:0030049muscle filament sliding TAS--
    GO:0060048cardiac muscle contraction IEA--

    Find genes that share ontologies with MYL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MYL1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    1 HMDB Compound for MYL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYL1 gene (2 alternative transcripts): 
    NM_079420.2  NM_079422.2  

    Unigene Cluster for MYL1:

    Myosin, light chain 1, alkali; skeletal, fast
    Hs.187338  [show with all ESTs]
    Unigene Representative Sequence: BF790783
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341685(uc002veb.3) ENST00000352451(uc002vec.3) ENST00000496436
    ENST00000484290
    miRNA
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    Additional mRNA sequence: 

    AK311892.1 AK311942.1 BC005318.1 CR456869.1 M20643.1 X05451.1 

    11 DOTS entries:

    DT.451890  DT.100646912  DT.95136953  DT.120988964  DT.92458835  DT.100646906  DT.87046784  DT.100028901 
    DT.120988967  DT.120988980  DT.92012066 

    414 AceView cDNA sequences (see top 24):

    F28438 W84453 F19305 AA993535 BU735911 F25010 AA176940 BM667508 
    BM678600 CR598137 F30560 BF475776 F29303 F35530 F31356 F32732 
    BM720926 BM667558 BM678556 W67183 F30858 F31527 F27414 AA332405 
    N69926 AU099573 F35245 F34713 BF589612 AA341712 AA176747 BU581245 
    W92584 F26328 F30911 F29961 F31880 F29169 AI800009 W67279 
    F34766 F29650 BU581571 BU735983 BM698268 F31791 BM697229 AL598940 
    AI674444 F29392 F24247 BF477662 NM_079422 AA214149 W84601 BM698563 
    BF574458 BF672239 CR456869 BF790470 AA346018 BF791248 F24832 BF693698 
    NM_079420 BF672097 BX436371 BF791288 F33136 F20778 F36341 BG204481 
    F26621 BF694656 AA179028 BF790571 F31159 F37297 AL598805 W78058 
    F31395 BF694942 AA328553 BF574327 BF672938 BE645357 AI141936 W93570 
    F24912 W05734 F29049 BF694840 N77934 BF672117 W68847 F34731 
    BF695080 F32715 F28055 BF791332 BF577135 AI185164 F33655 F26712 
    F32082 BC005318 BF791294 F30494 AL597782 W92585 F31683 BF672684 
    F37234 AA194338 BV206230 BF671813 BF670832 F33794 BM720980 BX117040 
    CA335153 AW206117 BM698190 BF126221 BF672279 BF673156 AW984715 AI093160 
    BF941685 BF791026 AA192837 F29219 BF574382 BF694494 F18102 W67239 
    BF791202 F01105 BU930562 W55928 F24141 BF670729 BF695013 BF791181 
    AI144499 AA665435 BF577005 BF695334 BF671381 BF126178 BF694400 BF672276 
    BF671849 BF576039 BF790476 W94759 BF671795 BF574401 AI160496 BF790893 
    BF790313 AA482820 BF672496 BE892913 BF672969 BF671265 BF694816 AA196486 
    BF695380 BF126212 BF670303 F30733 BF695134 BF672044 BF789926 BF576431 
    AI695786 BF679922 F30665 BF672298 F21972 BF673024 BF576938 F16395 
    BF789911 BF672134 F28924 BF126267 BF574350 F30737 BF693431 N74890 
    W01214 BF575719 BF575870 BG192465 F25067 BF671688 F31682 BF790961 
    BF671637 BG219454 F33852 F29560 BF692984 BF671378 BF670404 BF670298 
    BF694394 AA705167 F23555 BF672615 F22277 BF672820 M20643 BF673077 
    BF575474 BF672250 BF694484 F33216 F18934 BF574183 F26396 N95412 
    BF574283 BF694506 BF694574 BF575957 F37266 BF576366 BF694470 BF670798 
    AI336090 BF672997 BF574181 BF575569 N98529 BF574975 F32588 BF693841 
    BF589644 W07102 BF126332 BF574728 AW984626 BF695119 X05451 BF672643 
    BF693373 BF575551 BF577060 BF790729 BF672850 BF671380 BF694556 BF670898 
    F25940 BF671626 BF576078 BF694388 BF790045 AA176788 W92599 BF694364 
    BF575101 AI735164 F33161 BF694798 BF126093 AI669273 BF574474 BF693305 
    BF574335 BG202150 BF670954 BF574815 BF672177 AA482805 BF575874 BF670541 
    X05450 F20904 N74256 BF693362 BF791116 BF126384 BF575661 F31359 
    BF695152 BF692926 BG189926 BF672563 M20642 F22511 BF693465 BF789956 
    BF789963 AA112996 BF672933 BF790412 F37558 AA313685 BF577332 BF576304 
    BF575208 BM091153 BF694635 BF675291 BF575546 BF693903 AI312639 BF694566 
    BF672138 BF693972 BF692883 BF575603 BF695281 BF671225 AA176559 N74213 
    BG189356 BF673205 W04221 BG191962 BF576230 BF692985 AI200401 BF693787 
    BF574926 BF671154 AW950708 BF673216 BG191051 BF791158 BG189925 BF790256 
    F20676 BF693536 BF791166 AI033831 F26831 BX501887 F31296 BF574868 
    AA652149 BF574831 BF694611 BF671991 AA211724 F27099 BF575725 BF575815 
    F26577 BF672846 W25167 F27482 BF694891 W93571 BF575760 BF575315 
    BF695219 F01003 BF574145 F36400 H48728 F00352 H48556 AA705740 
    BF575779 AA484711 BG219950 AA746694 BF670625 F23527 AW984689 BF670946 
    BF676578 BF790239 BF693673 BG205273 BF790858 BF575209 BF694878 BG211985 
    BG187759 BF672263 BF574852 BF573920 F30683 BF693592 BF126067 AW984681 
    BF575875 BF577012 BF575028 BF790333 BF692896 BF672699 AA703465 F32105 
    BF695377 BF693671 BG186144 BG185146 BG987664 AA703481 AW984621 BF671151 
    BQ349782 BF577365 BI850310 AA086301 BF577300 BF670326 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MYL1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                                        
    SP2:                    -     -     -                                       
    SP3:              -     -     -     -     -     -     -                     
    SP4:                          -                                             


    ECgene alternative splicing isoforms for MYL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MYL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCAACAAA
    MYL1 Expression
    About this image


    MYL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiomyocytes Atrial Septum
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    MYL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187338
        Custom PCR Arrays for MYL1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MYL1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl11 , 5 myosin, light polypeptide 11, 5 88.54(n)1
    93.75(a)1
      1 (33.71 cM)5
    179011  NM_021285.31  NP_067260.11 
     669242955 
    chicken
    (Gallus gallus)
    Aves MYL11 myosin, light chain 1, alkali; skeletal, fast 78.89(n)
    80.67(a)
      396470  NM_001044632.1  NP_001038097.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYL16
    myosin, light chain 1, alkali; skeletal, fast
    86(a)
    1 ↔ 1
    1(113465920-113497825)
    African clawed frog
    (Xenopus laevis)
    Amphibia myl1-prov2 myosin light chain, alkali, fast skeletal muscle 79.94(n)    L38596.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myl11 myosin, light chain 1, alkali; skeletal, fast 67.3(n)
    63.52(a)
      336165  NM_200000.1  NP_956294.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mlc-c3 myosin ATPase 53(a)   5A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea T12D8.63 EF hand 48(a)   III(13694513-13695376)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MLC11 MLC1 50.25(n)
    38.97(a)
      852772   NP_011409.1 


    ENSEMBL Gene Tree for MYL1 (if available)
    TreeFam Gene Tree for MYL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYL1 gene
    MYL42  MYL6B2  MYL62  MYL32  
    18 SIMAP similar genes for MYL1 using alignment to 3 protein entries:     MYL1_HUMAN (see all proteins):
    MYL6    MYL3    MYL4    MYL6B    CALML3    CALM3
    CALM1    CALM2    CETN2    CABP1    CETN1    TNNC2
    CALML5    TNNC1    EFCAB2    CABP2    CALML6    CETN3

    Find genes that share paralogs with MYL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MYL1 (see all 596)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837718571,2
    --211154446(+) CCATCA/CCAGAG 2 -- ds50010--------
    rs1905540361,2
    --211154559(+) ATTGTC/TACTAG 2 -- ds50010--------
    rs130202321,2
    C,F,H--211154625(+) GTTTTC/TGCTTT 2 -- ds500113Minor allele frequency- T:0.07NS EA NA WA 1056
    rs1822277871,2
    C--211154753(+) GTAGAC/TTTCAG 2 -- ds50010--------
    rs1867702861,2
    --211154989(+) TTCTCA/TTCTAG 2 -- ut310--------
    rs1916936021,2
    --211155050(+) GAAGAC/TGTATA 2 -- ut310--------
    rs1814848991,2
    --211155085(+) TGAACC/TGTCCA 2 -- ut310--------
    rs758797361,2
    F--211155308(+) CACTTA/GCAAGA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs766711231,2
    C,F--211155321(+) AGCCAA/GTTCCT 2 -- int11Minor allele frequency- G:0.04WA 118
    rs1154803461,2
    F--211155648(+) ATCTCG/ATAATT 2 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for MYL1 (211154868 - 211179914 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MYL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834520CNV Loss17160897
    nsv875767CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160780    OMIM disorders: --


    Find genes that share disorders with MYL1           About GenesLikeMe

    Genetic Association Database (GAD): MYL1

    Export disorders for MYL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYL1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with MYL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function. (PubMed id 2304459)1, 3 Hailstones D.L. and Gunning P.W. (Mol. Cell. Biol. 1990)
    3. Identification of the functional promoter regions in the human gene encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal muscle. (PubMed id 2777779)1, 2 Seidel U. and Arnold H.H. (J. Biol. Chem. 1989)
    4. Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter. (PubMed id 3422212)1, 3 Cohen-Haguenauer O....FrAczal J. (Hum. Genet. 1988)
    5. Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. (PubMed id 2458299)1, 2 Seidel U.... Arnold H.H. (Gene 1988)
    6. The complete nucleotide sequences of cDNA clones coding for human myosin light chains 1 and 3. (PubMed id 3601661)1, 2 Seidel U.... Arnold H.H. (Nucleic Acids Res. 1987)
    7. The MLK-related kinase (MRK) is a novel RhoC effector that mediates lysophosphatidic acid (LPA)-stimulated tumor cell invasion. (PubMed id 23319595)1 Korkina O....Ruggieri R. (J. Biol. Chem. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4632 HGNC: 7582 AceView: MYL1 Ensembl:ENSG00000168530 euGenes: HUgn4632
    ECgene: MYL1 H-InvDB: MYL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MYL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYL1 gene:
    Search GeneIP for patents involving MYL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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