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Aliases for MKL1 Gene

Aliases for MKL1 Gene

  • Megakaryoblastic Leukemia (Translocation) 1 2 3
  • Myocardin-Related Transcription Factor A 2 3 4
  • MAL 3 4 6
  • Megakaryocytic Acute Leukemia Protein 3 4
  • Megakaryoblastic Leukemia 1 Protein 3 4
  • MRTF-A 3 4
  • Basic, SAP And Coiled-Coil Domain 3
  • Megakaryocytic Acute Leukemia 2
  • MKL/Myocardin-Like Protein 1 3
  • SAP And Coiled-Coil Domain 2
  • Mkl1 Variant 1 Mkl1_S 3
  • KIAA1438 4
  • Basic 2
  • BSAC 3
  • AMKL 6

External Ids for MKL1 Gene

Previous GeneCards Identifiers for MKL1 Gene

  • GC22M037420
  • GC22M039049
  • GC22M039130
  • GC22M040807
  • GC22M023769
  • GC22M040908

Summaries for MKL1 Gene

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 'megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)' and acute leukemia. Among its related pathways are RhoA signaling pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is MKL2.

UniProtKB/Swiss-Prot for MKL1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKL1 Gene

Genomics for MKL1 Gene

Regulatory Elements for MKL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MKL1 Gene

Start:
40,410,281 bp from pter
End:
40,636,719 bp from pter
Size:
226,439 bases
Orientation:
Minus strand

Genomic View for MKL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MKL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKL1 Gene

Proteins for MKL1 Gene

  • Protein details for MKL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969V6-MKL1_HUMAN
    Recommended name:
    MKL/myocardin-like protein 1
    Protein Accession:
    Q969V6
    Secondary Accessions:
    • Q8TCL1
    • Q96SC5
    • Q96SC6
    • Q9P2B0

    Protein attributes for MKL1 Gene

    Size:
    931 amino acids
    Molecular mass:
    98919 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAK56920.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92676.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC38828.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC38829.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MKL1 Gene

neXtProt entry for MKL1 Gene

Proteomics data for MKL1 Gene at MOPED

Post-translational modifications for MKL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MKL1 Gene

Domains for MKL1 Gene

Protein Domains for MKL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MKL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q969V6

UniProtKB/Swiss-Prot:

MKL1_HUMAN :
  • Q969V6
Domain:
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
  • The RPEL repeats mediate binding to globular actin.
  • Contains 1 SAP domain.
Similarity:
  • Contains 2 RPEL repeats.
genes like me logo Genes that share domains with MKL1: view

No data available for Gene Families for MKL1 Gene

Function for MKL1 Gene

Molecular function for MKL1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity ISS --
GO:0003779 actin binding IDA 24440334
genes like me logo Genes that share ontologies with MKL1: view
genes like me logo Genes that share phenotypes with MKL1: view

Animal Models for MKL1 Gene

MGI Knock Outs for MKL1:

Animal Model Products

CRISPR Products

miRNA for MKL1 Gene

miRTarBase miRNAs that target MKL1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MKL1 Gene

Localization for MKL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKL1 Gene

Nucleus. Cytoplasm. Note=Binding to globular actin is required to maintain cytoplasmic localization. Nuclear localization is regulated by MICAL2, which mediates depolymerization of nuclear globular actin, promoting retention of MKL1 in the nucleus and subsequent formation of an active complex with SRF (PubMed:24440334). {ECO:0000269 PubMed:24440334}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MKL1 Gene COMPARTMENTS Subcellular localization image for MKL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 14970199
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MKL1: view

Pathways for MKL1 Gene

SuperPathways for MKL1 Gene

Superpath Contained pathways
1 RhoA signaling pathway
genes like me logo Genes that share pathways with MKL1: view

Pathways by source for MKL1 Gene

1 BioSystems pathway for MKL1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0010735 positive regulation of transcription via serum response element binding IDA 24440334
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
genes like me logo Genes that share ontologies with MKL1: view

Compounds for MKL1 Gene

(1) Drugbank Compounds for MKL1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
LATRUNCULIN B
target
genes like me logo Genes that share compounds with MKL1: view

Transcripts for MKL1 Gene

Unigene Clusters for MKL1 Gene

Megakaryoblastic leukemia (translocation) 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MKL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MKL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MKL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2:
SP3: - - -
SP4:
SP5: - -
SP6:

Relevant External Links for MKL1 Gene

GeneLoc Exon Structure for
MKL1
ECgene alternative splicing isoforms for
MKL1

Expression for MKL1 Gene

mRNA expression in normal human tissues for MKL1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MKL1 Gene

SOURCE GeneReport for Unigene cluster for MKL1 Gene Hs.654688

mRNA Expression by UniProt/SwissProt for MKL1 Gene

Q969V6-MKL1_HUMAN
Tissue specificity: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain
genes like me logo Genes that share expressions with MKL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MKL1 Gene

Orthologs for MKL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MKL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MKL1 35
  • 98.61 (n)
  • 98.17 (a)
MKL1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MKL1 35
  • 87.19 (n)
  • 88.86 (a)
MKL1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MKL1 35
  • 89.05 (n)
  • 90.56 (a)
MKL1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mkl1 35
  • 83.62 (n)
  • 84.42 (a)
Mkl1 16
Mkl1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKL1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mkl1 35
  • 83.77 (n)
  • 85.06 (a)
chicken
(Gallus gallus)
Aves MKL1 35
  • 75.62 (n)
  • 76.41 (a)
MKL1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKL1 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MRTF-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16506 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6190 35
zebrafish
(Danio rerio)
Actinopterygii mkl1a 36
  • 37 (a)
OneToMany
mkl1b 35
  • 59.37 (n)
  • 58.9 (a)
mkl1b 36
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 36
  • 38 (a)
OneToMany
Species with no ortholog for MKL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MKL1 Gene

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

Paralogs for MKL1 Gene

Paralogs for MKL1 Gene

Selected SIMAP similar genes for MKL1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with MKL1: view

Variants for MKL1 Gene

Sequence variations from dbSNP and Humsavar for MKL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs129551 -- 40,635,772(-) tacgg(C/T)tgttt intron-variant
rs133030 -- 40,581,936(+) ATACT(A/G)TAAAA intron-variant
rs133031 -- 40,602,697(+) aaaaa(-/A)ttagc intron-variant
rs133032 -- 40,603,903(+) ccacg(-/G)caccc intron-variant
rs133033 -- 40,606,248(+) AAAGG(A/C)AAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MKL1 Gene

Variant ID Type Subtype PubMed ID
dgv4977n71 CNV Gain 21882294
nsv829233 CNV Loss 20364138
esv2671989 CNV Deletion 23128226
esv2422058 CNV Deletion 20811451
nsv829234 CNV Loss 20364138
nsv915110 CNV Loss 21882294
nsv829235 CNV Gain 20364138
dgv771n67 CNV Gain 20364138
nsv459886 CNV Loss 19166990
nsv3634 CNV Insertion 18451855
esv2677254 CNV Deletion 23128226
esv2724265 CNV Deletion 23290073
nsv829238 CNV Loss 20364138
nsv834205 CNV Gain+Loss 17160897
nsv915111 CNV Loss 21882294
nsv915112 CNV Loss 21882294

Relevant External Links for MKL1 Gene

HapMap Linkage Disequilibrium report
MKL1
Human Gene Mutation Database (HGMD)
MKL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKL1 Gene

Disorders for MKL1 Gene

UniProtKB/Swiss-Prot

MKL1_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for MKL1 Gene

(2) Novoseek inferred disease relationships for MKL1 Gene

Disease -log(P) Hits PubMed IDs
megakaryoblastic leukemia acute 78.3 4
leukemia 40.3 8

Relevant External Links for MKL1

Genetic Association Database (GAD)
MKL1
Human Genome Epidemiology (HuGE) Navigator
MKL1
genes like me logo Genes that share disorders with MKL1: view

Publications for MKL1 Gene

  1. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. (PMID: 11431691) Ma Z. … Hitzler J.K. (Nat. Genet. 2001) 2 3 4 23
  2. Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. (PMID: 12019265) Sasazuki T. … Nakano H. (J. Biol. Chem. 2002) 2 3 23
  3. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. (PMID: 14970199) Du K.L. … Parmacek M.S. (J. Biol. Chem. 2004) 2 3 23
  4. Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. (PMID: 11344311) Mercher T. … Bernard O.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  5. SCAI acts as a suppressor of cancer cell invasion through the transcriptional control of beta1-integrin. (PMID: 19350017) Brandt D.T. … Grosse R. (Nat. Cell Biol. 2009) 3 4

Products for MKL1 Gene

Sources for MKL1 Gene

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