Human Gene MYL12A (uc002klr.3) Description and Page Index
  Description: Homo sapiens myosin, light chain 12A, regulatory, non-sarcomeric (MYL12A), mRNA.
RefSeq Summary (NM_006471): This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014].
Transcript (Including UTRs)
   Position: hg19 chr18:3,247,528-3,256,234 Size: 8,707 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr18:3,253,246-3,255,916 Size: 2,671 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:3,247,528-3,256,234)mRNA (may differ from genome)Protein (171 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ML12A_HUMAN
DESCRIPTION: RecName: Full=Myosin regulatory light chain 12A; AltName: Full=MLC-2B; AltName: Full=Myosin RLC; AltName: Full=Myosin regulatory light chain 2, nonsarcomeric; AltName: Full=Myosin regulatory light chain MRLC3;
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 (By similarity).
SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
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.

-  MalaCards Disease Associations
  MalaCards Gene Search: MYL12A
Diseases sorted by gene-association score: cardiomyopathy, familial hypertrophic (1)

-  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: 448.57 RPKM in Heart - Left Ventricle
Total median expression: 4981.42 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -141.42395-0.358 Picture PostScript Text
3' UTR -60.80318-0.191 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
IPR018248 - EF-hand
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
PF08976 - EF-hand domain
PF13202 - EF hand
PF13405 - EF-hand domain
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on P19105
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 Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006936 muscle contraction
GO:0070527 platelet aggregation

Cellular Component:
GO:0005829 cytosol
GO:0016459 myosin complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC031972 - Homo sapiens myosin, light chain 12A, regulatory, non-sarcomeric, mRNA (cDNA clone MGC:42910 IMAGE:4836883), complete cds.
EU794621 - Homo sapiens epididymis secretory protein Li 24 (HEL-S-24) mRNA, complete cds.
DQ185044 - Homo sapiens myosin regulatory light chain mRNA, partial cds.
X54304 - Human mRNA for myosin regulatory light chain.
BC011398 - Homo sapiens myosin regulatory light chain MRCL3, mRNA (cDNA clone IMAGE:3856334), **** WARNING: chimeric clone ****.
AK291145 - Homo sapiens cDNA FLJ76400 complete cds, highly similar to Homo sapiens myosin regulatory light chain MRCL3 (MRCL3), mRNA.
AK057715 - Homo sapiens cDNA FLJ33153 fis, clone UTERU2000332.
AK222569 - Homo sapiens mRNA for myosin regulatory light chain MRCL3 variant, clone: CAS01966.
D82059 - Homo sapiens MRLC3 mRNA for myosin regulatory light chain, complete cds.
BC032748 - Homo sapiens myosin, light chain 12A, regulatory, non-sarcomeric, mRNA (cDNA clone MGC:45215 IMAGE:5563221), complete cds.
BC016372 - Homo sapiens myosin, light chain 12A, regulatory, non-sarcomeric, mRNA (cDNA clone MGC:27196 IMAGE:4293343), complete cds.
AB046614 - Homo sapiens MLC-2 mRNA for nonmuscle myosin light chain 2, complete cds.
DQ892814 - Synthetic construct clone IMAGE:100005444; FLH189975.01X; RZPDo839D0275D myosin regulatory light chain MRCL3 (MRCL3) gene, encodes complete protein.
DQ896060 - Synthetic construct Homo sapiens clone IMAGE:100010520; FLH189971.01L; RZPDo839D0265D myosin regulatory light chain MRCL3 (MRCL3) gene, encodes complete protein.
JD115650 - Sequence 96674 from Patent EP1572962.
AB528531 - Synthetic construct DNA, clone: pF1KB0401, Homo sapiens MYL12A gene for myosin, light chain 12A, regulatory, non-sarcomeric, without stop codon, in Flexi system.
KJ906051 - Synthetic construct Homo sapiens clone ccsbBroadEn_15721 MYL12A gene, encodes complete protein.
KJ893092 - Synthetic construct Homo sapiens clone ccsbBroadEn_02486 MYL12A gene, encodes complete protein.
LF339841 - JP 2014500723-A/147344: Polycomb-Associated Non-Coding RNAs.
JD019512 - Sequence 536 from Patent EP1572962.
JD035415 - Sequence 16439 from Patent EP1572962.
LF339842 - JP 2014500723-A/147345: Polycomb-Associated Non-Coding RNAs.
MA575418 - JP 2018138019-A/147344: Polycomb-Associated Non-Coding RNAs.
MA575419 - JP 2018138019-A/147345: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04530 - Tight junction
hsa04670 - Leukocyte transendothelial migration
hsa04810 - Regulation of actin cytoskeleton

Reactome (by CSHL, EBI, and GO)

Protein P19105 (Reactome details) participates in the following event(s):

R-HSA-3928640 PAKs phosphorylate MLC
R-HSA-445813 Phosphorylation of Smooth Muscle Myosin Light Chains
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-3928664 Ephrin signaling
R-HSA-445355 Smooth Muscle Contraction
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-397014 Muscle contraction
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ML12A_HUMAN, MLCB, MRLC3, NM_006471, NP_006462, P19105, RLC
UCSC ID: uc002klr.3
RefSeq Accession: NM_006471
Protein: P19105 (aka ML12A_HUMAN)
CCDS: CCDS11830.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006471.2
exon count: 4CDS single in 3' UTR: no RNA size: 1243
ORF size: 516CDS single in intron: no Alignment % ID: 99.84
txCdsPredict score: 1121.00frame shift in genome: no % Coverage: 98.87
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.