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Aliases for MKL1 Gene

Aliases for MKL1 Gene

  • Megakaryoblastic Leukemia (Translocation) 1 2 3 5
  • Myocardin-Related Transcription Factor A 2 3 4
  • Megakaryocytic Acute Leukemia Protein 3 4
  • Megakaryoblastic Leukemia 1 Protein 3 4
  • Basic, SAP And Coiled-Coil Domain 2 3
  • MRTF-A 3 4
  • MAL 3 4
  • Megakaryocytic Acute Leukemia 2
  • MKL/Myocardin-Like Protein 1 3
  • KIAA1438 4
  • BSAC 3
  • MKL 3

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 Megakaryocytic Leukemia. Among its related pathways are Cytoskeletal Signaling and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and actin 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

Additional gene information for MKL1 Gene

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

Genomics for MKL1 Gene

GeneHancer (GH) Regulatory Elements for MKL1 Gene

Promoters and enhancers for MKL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J040634 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 665.2 +0.4 392 4.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 MKL1 EP300 XRCC6 PHF5A EP300-AS1 ENSG00000272834 RPL4P6 ENSG00000232754 DNAJB7 TNRC6B
GH22J040460 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 669.6 +173.5 173486 5.8 HDGF CTCF BCOR ZNF384 E4F1 ZNF121 ZNF766 POLR2A EGR1 ADNP MKL1 ENSG00000229999 SGSM3 ENSG00000227413 LOC101927257
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.9 -651.6 -651602 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ENSG00000232754 ENSG00000227413 L3MBTL2 NAGA ZC3H7B
GH22J040531 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 17.7 +103.0 102963 4.6 PKNOX1 INSM2 MZF1 STAT5A FEZF1 BATF ZNF2 IRF4 ZNF121 ZNF213 EP300 MKL1 PHF5A ENSG00000272834 ENSG00000229999 SGSM3 ENSG00000227413 ENSG00000235513 LOC101927257 LOC105373037
GH22J041443 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 -810.0 -809997 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ACO2 TOB2 LOC105373043 L3MBTL2 EP300 PHF5A ZC3H7B SLC25A17 XRCC6 ENSG00000232754
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKL1 gene promoter:
  • SRF (504 AA)
  • SRF
  • p300
  • Arnt
  • AhR
  • AML1a
  • HNF-1
  • HNF-1A
  • Egr-1
  • HSF2

Genomic Locations for MKL1 Gene

Genomic Locations for MKL1 Gene
chr22:40,410,281-40,636,719
(GRCh38/hg38)
Size:
226,439 bases
Orientation:
Minus strand
chr22:40,806,285-41,032,706
(GRCh37/hg19)
Size:
226,422 bases
Orientation:
Minus strand

Genomic View for MKL1 Gene

Genes around MKL1 on UCSC Golden Path with GeneCards custom track

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

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 & Families for MKL1 Gene

Gene Families for MKL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MKL1 Gene

Suggested Antigen Peptide Sequences for MKL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q969V6

UniProtKB/Swiss-Prot:

MKL1_HUMAN :
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
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.
genes like me logo Genes that share domains with MKL1: view

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).

Phenotypes From GWAS Catalog for MKL1 Gene

Gene Ontology (GO) - Molecular Function for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity ISS,IEA --
GO:0003779 actin binding IDA,IEA 24440334
GO:0003785 actin monomer binding IEA,ISS --
GO:0004864 protein phosphatase inhibitor activity IEA --
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

miRNA for MKL1 Gene

miRTarBase miRNAs that target MKL1

Clone Products

  • Addgene plasmids for MKL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKL1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKL1 Gene

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

Pathways & Interactions for MKL1 Gene

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

Pathways by source for MKL1 Gene

2 Cell Signaling Technology pathways for MKL1 Gene

SIGNOR curated interactions for MKL1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA,IEA --
GO:0006366 transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with MKL1: view

Drugs & Compounds for MKL1 Gene

(1) Drugs for MKL1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LATRUNCULIN B Experimental Pharma Target 0
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:

Clone Products

  • Addgene plasmids for MKL1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MKL1 Gene

Protein differential expression in normal tissues from HIPED for MKL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.3), Urine (7.4), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MKL1 Gene



Protein tissue co-expression partners for MKL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKL1 Gene:

MKL1

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.

Evidence on tissue expression from TISSUES for MKL1 Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Liver(4.2)
  • Bone marrow(2.7)
  • Muscle(2.6)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with MKL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MKL1 34 33
  • 89.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MKL1 34 33
  • 87.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkl1 33
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Mkl1 16 34 33
  • 83.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MKL1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKL1 34 33
  • 75.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKL1 34
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MRTF-A 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16506 33
zebrafish
(Danio rerio)
Actinopterygii mkl1b 34 33
  • 59.37 (n)
OneToMany
mkl1a 34
  • 37 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6190 33
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 34
  • 38 (a)
OneToMany
Species where no ortholog for MKL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MKL1: view image

Paralogs for MKL1 Gene

Paralogs for MKL1 Gene

(2) SIMAP similar genes for MKL1 Gene using alignment to 8 proteins:

  • MKL1_HUMAN
  • A4FUJ8_HUMAN
  • B0QY74_HUMAN
  • B0QY83_HUMAN
  • B0QY84_HUMAN
  • E7ER32_HUMAN
  • L8E8L9_HUMAN
  • Q29R68_HUMAN
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 Variation AA Info Type
rs1000019466 -- 40,511,260(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000033604 -- 40,574,823(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000036088 -- 40,580,786(-) TGTTTGTTT/TGTTT genic_upstream_transcript_variant, intron_variant
rs1000037480 -- 40,594,622(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000040486 -- 40,578,718(-) T/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv771n67 CNV gain 20364138
esv2422058 CNV deletion 20811451
esv2671989 CNV deletion 23128226
esv2677254 CNV deletion 23128226
esv2724265 CNV deletion 23290073
esv3568410 CNV loss 25503493
esv3568411 CNV loss 25503493
esv3568412 CNV loss 25503493
esv3647777 CNV loss 21293372
esv3647778 CNV loss 21293372
esv3647779 CNV loss 21293372
nsv1071794 CNV deletion 25765185
nsv1160763 CNV duplication 26073780
nsv3634 CNV insertion 18451855
nsv459886 CNV loss 19166990
nsv589046 CNV loss 21841781
nsv589047 CNV loss 21841781
nsv829233 CNV loss 20364138
nsv829234 CNV loss 20364138
nsv829235 CNV gain 20364138
nsv829238 CNV loss 20364138
nsv834205 CNV gain+loss 17160897

Variation tolerance for MKL1 Gene

Residual Variation Intolerance Score: 73.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKL1 Gene

Human Gene Mutation Database (HGMD)
MKL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKL1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MKL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MKL1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
  • megakaryoblastic aml with t(1;22)(p13;q13)
megakaryocytic leukemia
  • acute megakaryoblastic leukaemia, fab m7
leukemia
endocardium disease
  • abnormality of the endocardium
- elite association - COSMIC cancer census association via MalaCards
Search MKL1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MKL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MKL1: view

No data available for Genatlas for MKL1 Gene

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 JK (Nature genetics 2001) 2 3 4 22 58
  2. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. (PMID: 14970199) Du KL … Parmacek MS (The Journal of biological chemistry 2004) 2 3 22 58
  3. 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 (The Journal of biological chemistry 2002) 2 3 22 58
  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 OA (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58
  5. Redox modification of nuclear actin by MICAL-2 regulates SRF signaling. (PMID: 24440334) Lundquist MR … Jaffrey SR (Cell 2014) 3 4 58

Products for MKL1 Gene

Sources for MKL1 Gene

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