Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MKL1 Gene

protein-coding   GIFtS: 60
GCID: GC22M040908

Megakaryoblastic Leukemia (Translocation) 1

  See MKL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Megakaryoblastic Leukemia (Translocation) 11 2     SAP And Coiled-Coil Domain1
Myocardin-Related Transcription Factor A1 2 3     BSAC2
MAL2 3 5     Basic, SAP And Coiled-Coil Domain2
Megakaryoblastic Leukemia 1 Protein2 3     MKL/Myocardin-Like Protein 12
Megakaryocytic Acute Leukemia Protein2 3     Mkl1 Variant 1 Mkl1_S2
MRTF-A2 3     KIAA14383
basic1     AMKL5
Megakaryocytic Acute Leukemia1     

External Ids:    HGNC: 143341   Entrez Gene: 575912   Ensembl: ENSG000001965887   OMIM: 6060785   UniProtKB: Q969V63   

Export aliases for MKL1 gene to outside databases

Previous GC identifers: GC22M037420 GC22M039049 GC22M039130 GC22M040807 GC22M023769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for MKL1 Gene:
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth
muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the
cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of
this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute
megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep
2013)

GeneCards Summary for MKL1 Gene:
MKL1 (megakaryoblastic leukemia (translocation) 1) is a protein-coding gene. Diseases associated with MKL1 include megakaryocytic leukemia, and acute leukemia. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MYOCD.

UniProtKB/Swiss-Prot: MKL1_HUMAN, Q969V6
Function: Transcriptional coactivator of serum response factor (SRF) with the potential to modulate SRF target
genes. Suppresses TNF-induced cell death by inhibiting activation of caspases; its transcriptional activity is
indispensable for the antiapoptotic function. It may up-regulate antiapoptotic molecules, which in turn inhibit
caspase activation (By similarity)

Gene Wiki entry for MKL1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MKL1 gene promoter:
         AhR   SRF   AML1a   Egr-1   p300   SRF (504 AA)   HNF-1A   Arnt   HSF2   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMKL1 promoter sequence
   Search Chromatin IP Primers for MKL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MKL1


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

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13

MKL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MKL1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M040908:  view genomic region     (about GC identifiers)

Start:
40,806,285 bp from pter      End:
41,032,706 bp from pter
Size:
226,422 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MKL1_HUMAN, Q969V6 (See protein sequence)
Recommended Name: MKL/myocardin-like protein 1  
Size: 931 amino acids; 98919 Da
Subunit: Forms with SCAI and SRF a nuclear ternary complex which binds the CArG consensus motif (CArG box) on DNA
via SRF. Interacts with ACTB; interaction with ACTB prevents interaction with SCAI. Interacts with MKL2 (By
similarity)
Sequence caution: Sequence=AAK56920.1; Type=Erroneous initiation; Sequence=BAA92676.2; Type=Erroneous initiation;
Sequence=CAC38828.1; Type=Erroneous initiation; Sequence=CAC38829.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MKL1:
2KVU (3D)        2KW9 (3D)    
Secondary accessions: Q8TCL1 Q96SC5 Q96SC6 Q9P2B0

Explore the universe of human proteins at neXtProt for MKL1: NX_Q969V6

Explore proteomics data for MKL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MKL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001269589.1  NP_001269590.1  NP_001269591.1  NP_065882.1  

    ENSEMBL proteins: 
     ENSP00000347847   ENSP00000385584   ENSP00000385835   ENSP00000385076   ENSP00000398478  
     ENSP00000379861  

    MKL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MKL1
    GenScript Custom Purified and Recombinant Proteins Services for MKL1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MKL1

     
    Search eBioscience for Proteins for MKL1 

     
    Search antibodies-online for proteins for MKL1 

     
    antibodies-online peptides for MKL1

    MKL1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MKL1
    OriGene Custom Antibody Services for MKL1
    Novus Biologicals MKL1 Antibodies
    Search for Antibodies for MKL1 at Abcam
    Cloud-Clone Corp. Antibodies for MKL1
    Search ThermoFisher Antibodies for MKL1
    antibodies-online antibodies for MKL1 (40 products) 

    MKL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MKL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MKL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MKL1
    Cloud-Clone Corp. CLIAs for MKL1
    Search eBioscience for ELISAs for MKL1 
    antibodies-online kits for MKL1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR003034 SAP_dom
     IPR004018 RPEL_repeat

    Graphical View of Domain Structure for InterPro Entry Q969V6

    ProtoNet protein and cluster: Q969V6

    1 Blocks protein domain: IPB003034 DNA-binding SAP

    UniProtKB/Swiss-Prot: MKL1_HUMAN, Q969V6
    Domain: The N-terminal region is required for nuclear localization and the C-terminal region mediates
    transcriptional activity (By similarity)
    Domain: The RPEL repeats mediate binding to globular actin (By similarity)
    Similarity: Contains 2 RPEL repeats
    Similarity: Contains 1 SAP domain


    Find genes that share domains with MKL1           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MKL1_HUMAN, Q969V6
    Function: Transcriptional coactivator of serum response factor (SRF) with the potential to modulate SRF target
    genes. Suppresses TNF-induced cell death by inhibiting activation of caspases; its transcriptional activity is
    indispensable for the antiapoptotic function. It may up-regulate antiapoptotic molecules, which in turn inhibit
    caspase activation (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity ISS--
    GO:0003779actin binding ----
         
    Find genes that share ontologies with MKL1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MKL1:
     Decreased nuclei size in G2M  Increased circadian period len 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mkl1):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with MKL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MKL1: Mkl1tm1Eno Mkl1tm1Swm

       genOway: Develop your customized and physiologically relevant rodent model for MKL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MKL1:
    hsa-mir-183-5p (MIRT047070)

    Block miRNA regulation of human, mouse, rat MKL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKL1 (see all 18):
    hsa-miR-202 hsa-miR-522 hsa-miR-374a hsa-miR-219-5p hsa-miR-410 hsa-miR-486-5p hsa-miR-508-3p hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMKL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MKL1
    Predesigned siRNA for gene silencing in human, mouse, rat MKL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MKL1

    Clone
    Products:
         
    OriGene clones in human, mouse for MKL1 (see all 7)
    OriGene ORF clones in mouse, rat for MKL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MKL1 (NM_020831)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKL1
    Addgene plasmids for MKL1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MKL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MKL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MKL1_HUMAN, Q969V6: Cytoplasm (By similarity). Nucleus (By similarity). Note=Binding to globular actin is
    required to maintain cytoplasmic localization (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with MKL1           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for MKL1 About    
    See pathways by source

    SuperPathContained pathways About
    1RhoA signaling pathway
    RhoA signaling pathway


    1 BioSystems Pathway for MKL1
        RhoA signaling pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including MKL1: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MKL1

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

    Selected Interacting proteins for MKL1 (Q969V61, 3 ENSP000003478474) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRFP118311, 3, ENSP000002653544EBI-493122,EBI-493034 I2D: score=4 STRING: ENSP00000265354
    MKL2Q9ULH73, ENSP000003390864I2D: score=3 STRING: ENSP00000339086
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    GSK3BP498413, ENSP000003248064I2D: score=1 STRING: ENSP00000324806
    KDM3AQ9Y4C13, ENSP000003236594I2D: score=1 STRING: ENSP00000323659
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0043066negative regulation of apoptotic process ----
    GO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA--
    GO:0045893positive regulation of transcription, DNA-templated ----

    Find genes that share ontologies with MKL1           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MKL1

    1 DrugBank Compound for MKL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LATRUNCULIN B-- --target--10592235



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MKL1 gene (4 alternative transcripts): 
    NM_001282660.1  NM_001282661.1  NM_001282662.1  NM_020831.4  

    Unigene Cluster for MKL1:

    Megakaryoblastic leukemia (translocation) 1
    Hs.654688  [show with all ESTs]
    Unigene Representative Sequence: BC115039
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355630(uc003ayw.1 uc010gyf.1) ENST00000402042(uc003ayy.1)
    ENST00000407029(uc003ayv.1) ENST00000477468 ENST00000402630 ENST00000422851
    ENST00000463769 ENST00000466278 ENST00000396617(uc010gye.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MKL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKL1 (see all 18):
    hsa-miR-202 hsa-miR-522 hsa-miR-374a hsa-miR-219-5p hsa-miR-410 hsa-miR-486-5p hsa-miR-508-3p hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidMKL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MKL1
    Predesigned siRNA for gene silencing in human, mouse, rat MKL1
    Clone
    Products:
         
    OriGene clones in human, mouse for MKL1 (see all 7)
    OriGene ORF clones in mouse, rat for MKL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MKL1 (NM_020831)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKL1
    Addgene plasmids for MKL1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MKL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKL1
      QuantiTect SYBR Green Assays in human, mouse, rat MKL1
      QuantiFast Probe-based Assays in human, mouse, rat MKL1

    Additional mRNA sequence: 

    AB037859.2 AF364036.1 AF368061.1 AF448806.1 AJ297257.1 AJ297258.1 AK096572.1 AL713710.1 
    BC021586.1 BC064620.1 BC114364.2 BC115039.1 BC139730.1 CR456522.1 

    19 DOTS entries:

    DT.444588  DT.95184304  DT.101956357  DT.120648981  DT.120649186  DT.120648927  DT.100811784  DT.100784960 
    DT.92433928  DT.92433925  DT.100784963  DT.95184312  DT.91725374  DT.120648898  DT.120649206  DT.120649231 
    DT.92433929  DT.95184308  DT.99936766 

    Selected AceView cDNA sequences (see all 185):

    BF001238 BC021586 BQ224929 BE886651 CA388774 BQ003780 AI342654 BF593661 
    AW475017 AI871693 BI914082 BE222427 AI276105 BM717885 NM_020831 AI347408 
    BP354306 BU506937 BX644520 CF541115 AB037859 BX113210 CR456522 AI291129 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MKL1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                -     -                                                         
    SP2:                                                                                                
    SP3:                    -           -     -                                                         
    SP4:                                                                                                
    SP5:                    -           -                                                               


    ECgene alternative splicing isoforms for MKL1

    (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

    TryGeneCards Plus

    MKL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGCAGAGG
    MKL1 Expression
    About this image

    MKL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MKL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654688

    UniProtKB/Swiss-Prot: MKL1_HUMAN, Q969V6
    Tissue specificity: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney,
    spleen, thymus, colon, muscle, heart and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including MKL1: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MKL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKL1
    QuantiTect SYBR Green Assays in human, mouse, rat MKL1
    QuantiFast Probe-based Assays in human, mouse, rat MKL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKL1

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MKL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mkl11 , 5 MKL (megakaryoblastic leukemia)/myocardin-like 11, 5 83.62(n)1
    84.42(a)1
      15 (37.98 cM)5
    2237011  NM_153049.31  NP_694629.21 
     810122815 
    chicken
    (Gallus gallus)
    Aves MKL11 megakaryoblastic leukemia (translocation) 1 75.62(n)
    76.41(a)
      418005  XM_416243.4  XP_416243.4 
    lizard
    (Anolis carolinensis)
    Reptilia MKL16
    megakaryoblastic leukemia (translocation) 1
    62(a)
    1 ↔ 1
    5(25830174-25923242)
    African clawed frog
    (Xenopus laevis)
    Amphibia MRTF-A2 myocardin-related transcription factor A 76.93(n)    AF532599.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mkl1b1 megakaryoblastic leukemia (translocation) 1b 59.37(n)
    58.9(a)
      559638  NM_001201558.1  NP_001188487.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mrtf6
    Myocardin-related transcription factor
    14(a)
    1 → many
    3L(2717615-2766480)


    ENSEMBL Gene Tree for MKL1 (if available)
    TreeFam Gene Tree for MKL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MKL1 gene
    MYOCD2  ENSG000002734522  MKL22  
    2 SIMAP similar genes for MKL1 using alignment to 8 protein entries:     MKL1_HUMAN (see all proteins):
    MKL2    MYOCD

    Find genes that share paralogs with MKL1           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

    TryGeneCards Plus

    Selected SNPs for MKL1 (see all 4341)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs170018831,2
    C,F--40806895(+) CTAAAA/TTGGCA 1 -- ut315Minor allele frequency- T:0.13NA EA 334
    rs1500697031,2
    C--40806925(+) GGTTGA/GCAGAC 1 -- ut310--------
    rs1509997891,2
    C--40806939(+) GGAAT-/GAGGGG 1 -- ut310--------
    rs15433221,2
    C,F--40806940(+) GGAATA/GGGGGG 1 -- ut311Minor allele frequency- G:0.17MN 184
    rs58454601,2
    C--40806940(+) GGGGG-/GTAGAG 1 -- ut310--------
    rs3685231351,2
    C--40806940(+) GGAATA/GGGGGGG 1 -- ut310--------
    rs1460559951,2
    --40807049(+) CCTCCC/TGCCTG 1 -- ut310--------
    rs1929404921,2
    --40807170(+) CCCAGA/CGTGAG 1 -- ut310--------
    rs412763091,2
    C--40807171(+) CCAGCA/GTGAGA 1 -- ut310--------
    rs1849047871,2
    C--40807258(+) AGCCTC/TCCAGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MKL1 (40806285 - 41032706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MKL1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422058CNV Deletion20811451
    esv2724265CNV Deletion23290073
    esv2677254CNV Deletion23128226
    esv2671989CNV Deletion23128226
    nsv3634CNV Insertion18451855
    nsv915111CNV Loss21882294
    nsv459886CNV Loss19166990
    nsv829233CNV Loss20364138
    nsv915110CNV Loss21882294
    nsv829238CNV Loss20364138

    Human Gene Mutation Database (HGMD): MKL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MKL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MKL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 606078    OMIM disorders: --

    UniProtKB/Swiss-Prot: MKL1_HUMAN, Q969V6
  • Note=A chromosomal aberration involving MKL1 may be a cause of acute megakaryoblastic leukemia.
    Translocation t(1;22)(p13;q13) with RBM15. Although both reciprocal fusion transcripts are detected in acute
    megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MKL1 chimeric protein has all the putative functional domains
    encoded by each gene and is the candidate oncogene

  • 3 diseases for MKL1:    
    About MalaCards
    megakaryocytic leukemia    acute leukemia    leukemia

    1 disease from the University of Copenhagen DISEASES database for MKL1:
    Leukemia

    Find genes that share disorders with MKL1           About GenesLikeMe

    2 Novoseek inferred disease relationships for MKL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    megakaryoblastic leukemia acute 78.3 6 12019265 (1), 11344311 (1), 20417868 (1), 11431691 (1)
    leukemia 40.3 9 14970199 (1), 16878130 (1), 19144992 (1), 19556245 (1) (see all 8)

    Genetic Association Database (GAD): MKL1
    Human Genome Epidemiology (HuGE) Navigator: MKL1 (1 document)

    Export disorders for MKL1 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for MKL1 gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with MKL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. (PubMed id 11431691)1, 2, 3, 9 Ma Z.... Hitzler J.K. (Nat. Genet. 2001)
    2. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. (PubMed id 14970199)1, 3, 9 Du K.L....Parmacek M.S. (J. Biol. Chem. 2004)
    3. Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. (PubMed id 12019265)1, 3, 9 Sasazuki T....Nakano H. (J. Biol. Chem. 2002)
    4. Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. (PubMed id 11344311)1, 2, 9 Mercher T....Bernard O.A. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    5. SCAI acts as a suppressor of cancer cell invasion through the transcriptional control of beta1-integrin. (PubMed id 19350017)1, 2 Brandt D.T.... Grosse R. (Nat. Cell Biol. 2009)
    6. Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease. (PubMed id 19513752)1, 4 Hinohara K....Kimura A. (Hum. Genet. 2009)
    7. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (Hum. Mol. Genet. 2009)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 57591 HGNC: 14334 AceView: MKL1 Ensembl:ENSG00000196588 euGenes: HUgn57591
    ECgene: MKL1 H-InvDB: MKL1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1438

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MKL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MKL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MKL1 gene:
    Search GeneIP for patents involving MKL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MKL1   OriGene RNAi products in human, mouse, rat for MKL1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MKL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for MKL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MKL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MKL1   OriGene Custom Protein Services for MKL1  

     
     
     Block miRNA regulation of human, mouse, rat MKL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MKL1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MKL1 Predesigned siRNA for gene silencing in human, mouse, rat MKL1
     QuantiFast Probe-based Assays in human, mouse, rat MKL1 QuantiTect SYBR Green Assays in human, mouse, rat MKL1
     PCR Arrays including human, mouse, rat MKL1 Search Chromatin IP Primers for MKL1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKL1  GeneGlobe Interaction Network for MKL1
     Regulatory tfbs in MKL1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MKL1 GenScript cDNA clones with any tag delivered in your preferred vector for MKL1
     GenScript Custom Assay Services for MKL1 GenScript Custom overexpressing Cell Line Services for MKL1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MKL1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MKL1 antibodies
     Search for Antibodies for MKL1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for MKL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MKL1
     Antibodies for MKL1
     ELISAs for MKL1
     CLIAs for MKL1



     Browse ESI BIO Cell Lines and PureStem Progenitors for MKL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKL1
     SwitchGear 3'UTR luciferase reporter plasmids for MKL1
     SwitchGear Promoter luciferase reporter plasmids for MKL1
     Search ThermoFisher Antibodies for MKL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKL1
     Browse compounds at ApexBio
     Addgene plasmids for MKL1
      Search eBioscience for proteins for MKL1
      Search eBioscience for elisas for MKL1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for MKL1
     antibodies-online antibodies for MKL1 (40 products)
     antibodies-online kits for MKL1 (4 products)
     antibodies-online peptides for MKL1
      Search antibodies-online for proteins for MKL1
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MKL1 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4