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... See more...

Aliases for MRTFA Gene

Aliases for MRTFA Gene

  • Myocardin Related Transcription Factor A 2 3 5
  • MRTF-A 2 3 4
  • MAL 2 3 4
  • Megakaryoblastic Leukemia (Translocation) 1 2 3
  • Myocardin-Related Transcription Factor A 3 4
  • Megakaryocytic Acute Leukemia Protein 3 4
  • Megakaryoblastic Leukemia 1 Protein 3 4
  • Basic, SAP And Coiled-Coil Domain 2 3
  • MKL/Myocardin-Like Protein 1 3 4
  • KIAA1438 2 4
  • BSAC 2 3
  • MKL1 3 4
  • MKL 2 3
  • Megakaryocytic Acute Leukemia 2
  • MRTFA 5

External Ids for MRTFA Gene

Previous HGNC Symbols for MRTFA Gene

  • MKL1

Previous GeneCards Identifiers for MRTFA Gene

  • GC22M042819
  • GC22M042934
  • GC22M043143
  • GC22M044778
  • GC22M042705

Summaries for MRTFA Gene

Entrez Gene Summary for MRTFA 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 MRTFA Gene

MRTFA (Myocardin Related Transcription Factor A) is a Protein Coding gene. Diseases associated with MRTFA include Immunodeficiency 66 and Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13). Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. An important paralog of this gene is MRTFB.

UniProtKB/Swiss-Prot Summary for MRTFA Gene

  • Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus.

Gene Wiki entry for MRTFA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRTFA Gene

Genomics for MRTFA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRTFA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRTFA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRTFA

Genomic Locations for MRTFA Gene

Genomic Locations for MRTFA 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 MRTFA Gene

Genes around MRTFA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRTFA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRTFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRTFA Gene

Proteins for MRTFA Gene

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

    Protein Symbol:
    Q969V6-MRTFA_HUMAN
    Recommended name:
    Myocardin-related transcription factor A
    Protein Accession:
    Q969V6
    Secondary Accessions:
    • Q8TCL1
    • Q96SC5
    • Q96SC6
    • Q9P2B0

    Protein attributes for MRTFA Gene

    Size:
    931 amino acids
    Molecular mass:
    98919 Da
    Quaternary structure:
    • Interacts with SRF, forming the SRF-MRTFA nuclear complex which binds the 5'-CArG-3' consensus motif (CArG box) on DNA via SRF (PubMed:14565952, PubMed:19350017). Interacts (via RPEL repeats) with globular actin (G-actin), thereby regulating its subcellular location and activity of the complex formed with SRF (PubMed:19350017). Either forms a trivalent (by binding three G-actin monomers) or pentavalent (by binding five G-actin monomers) complex with G-actin (By similarity). Forms a nuclear ternary complex with SCAI and SRF, leading to suppress MRTFA-induced SRF transcriptional activity (PubMed:19350017). Interacts with beta-actin (ACTB); interaction with ACTB prevents interaction with SCAI (By similarity). Interacts with MRTFB (PubMed:14565952).
    SequenceCaution:
    • Sequence=AAK56920.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92676.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAC38828.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAC38829.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRTFA Gene

neXtProt entry for MRTFA Gene

Post-translational modifications for MRTFA Gene

  • Phosphorylation at Ser-6 by Erk inhibits binding of globular actin (G-actin), unmasking the nuclear localization signal (NLS) and promoting nuclear import.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRTFA Gene

Domains & Families for MRTFA Gene

Gene Families for MRTFA Gene

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

Protein Domains for MRTFA Gene

InterPro:
Blocks:
  • DNA-binding SAP
ProtoNet:

Suggested Antigen Peptide Sequences for MRTFA Gene

GenScript: Design optimal peptide antigens:
  • MKL1 protein (A4FUJ8_HUMAN)
  • Myocardin-related transcription factor A (MKL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969V6

UniProtKB/Swiss-Prot:

MRTFA_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 (G-actin); each RPEL repeat-binding to one G-actin monomer. In addition, each intervening spacer sequence region can bind one G-actin monomer, to reach a pentavalent complex.
genes like me logo Genes that share domains with MRTFA: view

Function for MRTFA Gene

Molecular function for MRTFA Gene

UniProtKB/Swiss-Prot Function:
Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus.

Phenotypes From GWAS Catalog for MRTFA Gene

Gene Ontology (GO) - Molecular Function for MRTFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity IEA,ISS --
GO:0003779 actin binding IEA,IDA 24440334
GO:0003785 actin monomer binding IEA,ISS --
genes like me logo Genes that share ontologies with MRTFA: view
genes like me logo Genes that share phenotypes with MRTFA: view

Animal Models for MRTFA Gene

MGI Knock Outs for MRTFA:

Animal Model Products

CRISPR Products

miRNA for MRTFA Gene

miRTarBase miRNAs that target MRTFA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRTFA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRTFA Gene

Localization for MRTFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRTFA Gene

Cytoplasm. Nucleus. Note=Subcellular location is tightly regulated by actin both in cytoplasm and nucleus: high levels of G-actin in the nucleus observed during serum deprivation lead to low levels of nuclear MRTFA, while reduced levels of nuclear G-actin result in accumulation of MRTFA in the nucleus (By similarity). G-actin-binding in the cytoplasm inhibits nuclear import by masking the nuclear localization signal (NLS) (By similarity). In contrast, binding to nuclear globular actin (G-actin) promotes nuclear export to the cytoplasm (By similarity). Nuclear localization is regulated by MICAL2, which mediates depolymerization of nuclear actin, which decreases nuclear G-actin pool, thereby promoting retention of MRTFA in the nucleus and subsequent formation of an active complex with SRF (PubMed:24440334). {ECO:0000250 UniProtKB:Q8K4J6, 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 MRTFA gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MRTFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14970199
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA,IDA 14970199
GO:0005829 cytosol IDA,TAS --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with MRTFA: view

Pathways & Interactions for MRTFA Gene

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

Pathways by source for MRTFA Gene

1 BioSystems pathway for MRTFA Gene
2 Cell Signaling Technology pathways for MRTFA Gene

SIGNOR curated interactions for MRTFA Gene

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

Gene Ontology (GO) - Biological Process for MRTFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0010735 positive regulation of transcription via serum response element binding IEA,IDA 24440334
GO:0030036 actin cytoskeleton organization IEA,ISS --
GO:0030900 forebrain development IEA --
genes like me logo Genes that share ontologies with MRTFA: view

Drugs & Compounds for MRTFA Gene

(1) Drugs for MRTFA 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 MRTFA: view

Transcripts for MRTFA Gene

mRNA/cDNA for MRTFA Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRTFA

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

No ASD Table

Relevant External Links for MRTFA Gene

GeneLoc Exon Structure for
MRTFA

Expression for MRTFA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRTFA

SOURCE GeneReport for Unigene cluster for MRTFA Gene:

Hs.654688

mRNA Expression by UniProt/SwissProt for MRTFA Gene:

Q969V6-MRTFA_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 MRTFA Gene

  • Nervous system(4.8)
  • Blood(4.5)
  • Liver(4.4)
  • Muscle(2.9)
  • Bone marrow(2.9)
  • Heart(2.8)
  • Skin(2.7)
  • Eye(2.6)
  • Intestine(2.4)
  • Kidney(2.4)
  • Lung(2.3)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Thyroid gland(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRTFA Gene

Orthologs for MRTFA Gene

This gene was present in the common ancestor of animals.

Orthologs for MRTFA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MKL1 30 31
  • 98.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MKL1 30 31
  • 89.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MKL1 30 31
  • 87.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mkl1 30
  • 83.77 (n)
Mouse
(Mus musculus)
Mammalia Mkl1 30 31
  • 83.62 (n)
OneToOne
Mrtfa 17
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia MKL1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MKL1 30 31
  • 75.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MKL1 31
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MRTF-A 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.16506 30
Zebrafish
(Danio rerio)
Actinopterygii mkl1b 30 31
  • 59.37 (n)
OneToMany
mkl1a 31
  • 37 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6190 30
Fruit Fly
(Drosophila melanogaster)
Insecta Mrtf 31
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5092 31
  • 38 (a)
OneToMany
Species where no ortholog for MRTFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 MRTFA Gene

ENSEMBL:
Gene Tree for MRTFA (if available)
TreeFam:
Gene Tree for MRTFA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRTFA: view image

Paralogs for MRTFA Gene

Paralogs for MRTFA Gene

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

Variants for MRTFA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRTFA Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
712415 Benign: not provided 40,418,984(-) G/A MISSENSE_VARIANT
717869 Benign: not provided 40,418,538(-) G/A MISSENSE_VARIANT
720853 Benign: not provided 40,411,432(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
729224 Likely Benign: not provided 40,411,459(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
729225 Likely Benign: not provided 40,423,625(-) G/C MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MRTFA Gene

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRTFA

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

Disorders for MRTFA Gene

MalaCards: The human disease database

(7) MalaCards diseases for MRTFA Gene - From: ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 66
  • imd66
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
  • leukemias
neonatal leukemia
- elite association - COSMIC cancer census association via MalaCards
Search MRTFA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRTFA_HUMAN
  • Note=A chromosomal aberration involving MRTFA may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with RBM15 (PubMed:11431691, PubMed:11344311). Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MRTFA chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene (PubMed:11431691, PubMed:11344311). {ECO:0000269 PubMed:11344311, ECO:0000269 PubMed:11431691}.
genes like me logo Genes that share disorders with MRTFA: view

No data available for Genatlas for MRTFA Gene

Publications for MRTFA 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 23
  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 23
  3. Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation. (PMID: 14565952) Selvaraj A … Prywes R (The Journal of biological chemistry 2003) 3 4 23
  4. 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 23
  5. 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 23

Products for MRTFA Gene

Sources for MRTFA Gene