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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

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 Signaling by GPCR and Mitotic Prometaphase. 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

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

Enhancers for MKL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F040507 1.2 Ensembl ENCODE 18.3 +126.2 126182 7.1 INSM2 ZNF76 FEZF1 RAD21 ZNF2 RFX5 ZNF121 ZNF366 SCRT2 RCOR1 MKL1 ENSG00000229999 SGSM3 LOC101927257 ENSG00000227413
GH22F040460 1.1 ENCODE 19.6 +173.5 173487 5.8 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 KLF13 EP300 MKL1 ENSG00000272834 EP300-AS1 ENSG00000227413 ADSL ENSG00000229999 SGSM3 ENSG00000232754 LOC101927257
GH22F040592 1.1 Ensembl ENCODE 17.8 +41.0 41019 6.6 TBP HDAC1 PKNOX1 TBL1XR1 FEZF1 RAD21 RARA ZNF121 SCRT2 EGR2 MKL1 LOC101927257 ST13 XPNPEP3 RPL4P6
GH22F040477 1 Ensembl ENCODE 19.3 +156.8 156819 4.6 HDAC1 KLF1 CEBPG ZNF121 ZNF316 GATA3 GATA2 NR2F6 FOS MAFK MKL1 ENSG00000229999 SGSM3 LOC101927257 XPNPEP3 ADSL ENSG00000227413
GH22F040433 0.9 ENCODE 20.7 +200.2 200226 6.0 TBL1XR1 WRNIP1 RAD21 CREM ZNF654 CBFB JUNB REST TBX21 MAFF MKL1 ENSG00000229999 SGSM3 LOC101927257 CHADL ENSG00000227413
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MKL1 on UCSC Golden Path with GeneCards custom track

Promoters for MKL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000618623 219 3401 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for MKL1 Gene

Chromosome:
22
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

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

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 :
  • The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.
  • Contains 2 RPEL repeats.
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:0001105 RNA polymerase II transcription coactivator activity IBA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003713 transcription coactivator activity IEA,ISS --
GO:0003779 actin binding IEA,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

miRNA for MKL1 Gene

miRTarBase miRNAs that target MKL1

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for MKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14970199
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA 14970199
GO:0005829 cytosol 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
1 BioSystems pathway 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 from RNA polymerase II promoter IEA --
GO:0010735 positive regulation of transcription via serum response element binding IEA,IDA 24440334
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with MKL1: view

Primer 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 34
  • 98.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MKL1 35 34
  • 89.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MKL1 35 34
  • 87.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkl1 34
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Mkl1 34 16 35
  • 83.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MKL1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKL1 35 34
  • 75.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKL1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16506 34
African clawed frog
(Xenopus laevis)
Amphibia MRTF-A 34
zebrafish
(Danio rerio)
Actinopterygii mkl1b 35 34
  • 59.37 (n)
OneToMany
mkl1a 35
  • 37 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6190 34
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 35
  • 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)

Paralogs for MKL1 Gene

Paralogs for MKL1 Gene

(2) 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
rs1022533 -- 40,576,543(+) TAAAT(C/T)GTGGC intron-variant
rs1045773 -- 40,409,963(+) ATGCT(C/T)TAGGC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1045775 -- 40,409,975(+) AAACC(A/C)CAGTT intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs10483203 -- 40,433,949(+) AAAAA(A/T)ATCTA intron-variant, utr-variant-5-prime
rs10483204 -- 40,474,790(+) ATATC(C/T)TAACT intron-variant

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

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

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)

Relevant External Links for MKL1 Gene

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

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

Disorders for MKL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MKL1 Gene - From: 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
external ear disease
  • preauricular cyst
- 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.

Relevant External Links for MKL1

Genetic Association Database (GAD)
MKL1
Human Genome Epidemiology (HuGE) Navigator
MKL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MKL1
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 J.K. (Nat. Genet. 2001) 2 3 4 22 64
  2. 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 22 64
  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. (J. Biol. Chem. 2002) 2 3 22 64
  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 22 64
  5. Redox modification of nuclear actin by MICAL-2 regulates SRF signaling. (PMID: 24440334) Lundquist M.R. … Jaffrey S.R. (Cell 2014) 3 4 64

Products for MKL1 Gene

Sources for MKL1 Gene

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