Human Gene MYL9 (ENST00000279022.7_4) from GENCODE V47lift37
  Description: myosin light chain 9, transcript variant 1 (from RefSeq NM_006097.5)
Gencode Transcript: ENST00000279022.7_4
Gencode Gene: ENSG00000101335.10_7
Transcript (Including UTRs)
   Position: hg19 chr20:35,169,922-35,179,850 Size: 9,929 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr20:35,173,288-35,177,652 Size: 4,365 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:35,169,922-35,179,850)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYL9_HUMAN
DESCRIPTION: RecName: Full=Myosin regulatory light polypeptide 9; AltName: Full=20 kDa myosin light chain; Short=LC20; AltName: Full=MLC-2C; AltName: Full=Myosin RLC; AltName: Full=Myosin regulatory light chain 2, smooth muscle isoform; AltName: Full=Myosin regulatory light chain 9; AltName: Full=Myosin regulatory light chain MRLC1;
FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.
SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
TISSUE SPECIFICITY: Smooth muscle tissues and in some, but not all, nonmuscle cells.
PTM: Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge (By similarity).
MISCELLANEOUS: This chain binds calcium.
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


-  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: 6024.69 RPKM in Esophagus - Muscularis
Total median expression: 48339.59 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 -9.7069-0.141 Picture PostScript Text
3' UTR -902.002198-0.410 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
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF00036 - EF hand
PF13202 - EF hand
PF13405 - EF-hand domain
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on P24844
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 DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0008307 structural constituent of muscle
GO:0046872 metal ion binding

Biological Process:
GO:0006936 muscle contraction
GO:0006937 regulation of muscle contraction
GO:0045652 regulation of megakaryocyte differentiation
GO:0070527 platelet aggregation

Cellular Component:
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0016459 myosin complex


-  Descriptions from all associated GenBank mRNAs
  LF205988 - JP 2014500723-A/13491: Polycomb-Associated Non-Coding RNAs.
D82057 - Homo sapiens MRLC1 mRNA for myosin regulatory light chain, complete cds.
AK130879 - Homo sapiens cDNA FLJ27369 fis, clone UBA03540, highly similar to Myosin regulatory light chain 2, smooth muscle isoform.
AK097235 - Homo sapiens cDNA FLJ39916 fis, clone SPLEN2019311.
BC002648 - Homo sapiens myosin, light chain 9, regulatory, mRNA (cDNA clone MGC:3505 IMAGE:3608316), complete cds.
AF176042 - Homo sapiens regulatory myosin light chain long version mRNA, alternatively spliced, complete cds.
AF176043 - Homo sapiens regulatory myosin light chain short version mRNA, alternatively spliced, complete cds.
J02854 - Human 20-kDa myosin light chain (MLC-2) mRNA, complete cds.
CR456843 - Homo sapiens full open reading frame cDNA clone RZPDo834G056D for gene MYL9, myosin, light polypeptide 9, regulatory; complete cds, incl. stopcodon.
EU832091 - Synthetic construct Homo sapiens clone HAIB:100067120; DKFZo008A0325 myosin, light chain 9, regulatory protein (MYL9) gene, encodes complete protein.
EU832183 - Synthetic construct Homo sapiens clone HAIB:100067212; DKFZo004A0326 myosin, light chain 9, regulatory protein (MYL9) gene, encodes complete protein.
GQ891335 - Homo sapiens clone HEL-S-106d epididymis secretory sperm binding protein mRNA, complete cds.
LF350371 - JP 2014500723-A/157874: Polycomb-Associated Non-Coding RNAs.
JD020530 - Sequence 1554 from Patent EP1572962.
JD028820 - Sequence 9844 from Patent EP1572962.
LF350373 - JP 2014500723-A/157876: Polycomb-Associated Non-Coding RNAs.
JD386383 - Sequence 367407 from Patent EP1572962.
JD420314 - Sequence 401338 from Patent EP1572962.
JD364075 - Sequence 345099 from Patent EP1572962.
JD044905 - Sequence 25929 from Patent EP1572962.
JD467532 - Sequence 448556 from Patent EP1572962.
JD127868 - Sequence 108892 from Patent EP1572962.
JD103052 - Sequence 84076 from Patent EP1572962.
JD337446 - Sequence 318470 from Patent EP1572962.
LF350374 - JP 2014500723-A/157877: Polycomb-Associated Non-Coding RNAs.
JD139718 - Sequence 120742 from Patent EP1572962.
JD097530 - Sequence 78554 from Patent EP1572962.
KT923690 - Homo sapiens CCAT7 lncRNA gene, complete sequence.
AK130977 - Homo sapiens cDNA FLJ27467 fis, clone ADG06160.
MA585948 - JP 2018138019-A/157874: Polycomb-Associated Non-Coding RNAs.
MA585950 - JP 2018138019-A/157876: Polycomb-Associated Non-Coding RNAs.
MA585951 - JP 2018138019-A/157877: Polycomb-Associated Non-Coding RNAs.
MA441565 - JP 2018138019-A/13491: Polycomb-Associated Non-Coding RNAs.

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

Protein P24844 (Reactome details) participates in the following event(s):

R-HSA-445813 Phosphorylation of Smooth Muscle Myosin Light Chains
R-HSA-419232 Myosin phosphatase dephosphorylates myosin regulatory light chain
R-HSA-419197 Myosin regulatory light chain phosphorylation by ROCK
R-HSA-3928616 Activated ROCK phosphorylates MRLCs
R-HSA-5668978 MYLK (MLCK) phosphorylates MRLCs of the non-muscle myosin II complex
R-HSA-5671919 Activated CIT phosphorylates MRLCs
R-HSA-5668932 PAK2 phosphorylates myosin regulatory light chain (MRLC)
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-445355 Smooth Muscle Contraction
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-5627117 RHO GTPases Activate ROCKs
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
R-HSA-3928663 EPHA-mediated growth cone collapse
R-HSA-5625900 RHO GTPases activate CIT
R-HSA-397014 Muscle contraction
R-HSA-212436 Generic Transcription Pathway
R-HSA-195258 RHO GTPase Effectors
R-HSA-400685 Sema4D in semaphorin signaling
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-194315 Signaling by Rho GTPases
R-HSA-373755 Semaphorin interactions
R-HSA-422475 Axon guidance
R-HSA-74160 Gene expression (Transcription)
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: E1P5T6, ENST00000279022.1, ENST00000279022.2, ENST00000279022.3, ENST00000279022.4, ENST00000279022.5, ENST00000279022.6, MLC2, MRLC1, MYL9_HUMAN, MYRL2, NM_006097, P24844, Q9BQL9, Q9BUF9, Q9H136, uc317jqu.1, uc317jqu.2
UCSC ID: ENST00000279022.7_4
RefSeq Accession: NM_006097.5
Protein: P24844 (aka MYL9_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYL9:
mmihs-ov (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview)

-  Gene Model Information
  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.