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    MRTFA myocardin related transcription factor A [ Homo sapiens (human) ]

    Gene ID: 57591, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRTFAprovided by HGNC
    Official Full Name
    myocardin related transcription factor Aprovided by HGNC
    Primary source
    HGNC:HGNC:14334
    See related
    Ensembl:ENSG00000196588 MIM:606078; AllianceGenome:HGNC:14334
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAL; MKL; BSAC; MKL1; MRTF-A
    Summary
    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]
    Annotation information
    Note: MAL (Gene ID: 4118), TIRAP (Gene ID: 114609), and MKL1 (Gene ID: 57591) share the MAL symbol/alias in common. MAL is a widely used alternative name for TIR domain containing adaptor protein (TIRAP) and megakaryoblastic leukemia (translocation) 1 (MKL1). [23 May 2018]
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.0), testis (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRTFA in Genome Data Viewer
    Location:
    22q13.1-q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40410289..40636719, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40880672..41108683, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40806293..41032723, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene uncharacterized LOC124905121 Neighboring gene MPRA-validated peak4496 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40740204-40740376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742019-40742532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742533-40743046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40743047-40743559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40812395-40812894 Neighboring gene adenylosuccinate lyase Neighboring gene small G protein signaling modulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19090 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40851734-40851957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19093 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40867879-40868537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40894439-40894938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40906589-40907133 Neighboring gene MRTFA antisense RNA 1 Neighboring gene uncharacterized LOC105373037 Neighboring gene Sharpr-MPRA regulatory region 11047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19095 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 12345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19096 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41033797-41034996 Neighboring gene ribosomal protein L4 pseudogene 6 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41047623-41048822 Neighboring gene uncharacterized LOC124905122 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2152 Neighboring gene uncharacterized LOC124905123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41060823-41061338 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MKL1 mediates TGF-beta1-induced alpha-smooth muscle actin expression in human renal epithelial cells. Elberg G, et al. Am J Physiol Renal Physiol, 2008 May. PMID 18337547
    2. Nuclear accumulation of MKL1 in luminal breast cancer cells impairs genomic activity of ERα and is associated with endocrine resistance. Jehanno C, et al. Biochim Biophys Acta Gene Regul Mech, 2020 May. PMID 32113984
    3. MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization. Sprenkeler EGG, et al. Blood, 2020 Jun 11. PMID 32128589
    4. Development of Hodgkin lymphoma in homozygotic triplets with constitutional deletion in MKL1. Björkholm M, et al. Blood, 2013 Jun 6. PMID 23744493
    5. Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease. Hinohara K, et al. Hum Genet, 2009 Oct. PMID 19513752

    See all (184) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MRTF-A/SRF signaling suppresses invasion of oral squamous cell carcinoma.
      Title: MRTF-A/SRF signaling suppresses invasion of oral squamous cell carcinoma.
    2. INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10.
      Title: INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10.
    3. Role of CRP2-MRTF interaction in functions of myofibroblasts.
      Title: Role of CRP2-MRTF interaction in functions of myofibroblasts.
    4. SRF/MRTF-A and liver cirrhosis: Pathologic associations.
      Title: SRF/MRTF-A and liver cirrhosis: Pathologic associations.
    5. MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.
      Title: MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.
    6. The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity.
      Title: The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity.
    7. MiR-17-5p and MKL-1 modulate stem cell characteristics of gastric cancer cells.
      Title: MiR-17-5p and MKL-1 modulate stem cell characteristics of gastric cancer cells.
    8. Oxidative Stress Enhances the TGF-beta2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition.
      Title: Oxidative Stress Enhances the TGF-β2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition.
    9. MKL1 regulates hepatocellular carcinoma cell proliferation, migration and apoptosis via the COMPASS complex and NF-kappaB signaling.
      Title: MKL1 regulates hepatocellular carcinoma cell proliferation, migration and apoptosis via the COMPASS complex and NF-κB signaling.
    10. Nuclear translocation of MRTFA in MCF7 breast cancer cells shifts ERalpha nuclear/genomic to extra-nuclear/non genomic actions.
      Title: Nuclear translocation of MRTFA in MCF7 breast cancer cells shifts ERα nuclear/genomic to extra-nuclear/non genomic actions.
    Submit: New GeneRIF Correction See all GeneRIFs (126)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 66
    MedGen: C5394265 OMIM: 618847 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
    EBI GWAS Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin monomer binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables leucine zipper domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of miRNA transcription IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in smooth muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in wound healing, spreading of cells IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myocardin-related transcription factor A
    Names
    MKL/myocardin-like protein 1
    alternative protein MKL1
    basic, SAP and coiled-coil domain
    megakaryoblastic leukemia (translocation) 1
    megakaryoblastic leukemia 1 protein
    megakaryocytic acute leukemia protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_065810.1 RefSeqGene

      Range
      5001..231431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1427

    mRNA and Protein(s)

    1. NM_001282660.2 → NP_001269589.1  myocardin-related transcription factor A isoform 1

      See identical proteins and their annotated locations for NP_001269589.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1) has a shorter N-terminus, compared to isoform 5.
      Source sequence(s)
      AJ297257, BC115039, BG716386
      Consensus CDS
      CCDS14003.1
      UniProtKB/Swiss-Prot
      Q8TCL1, Q969V6, Q96SC5, Q96SC6, Q9P2B0
      UniProtKB/TrEMBL
      A0A087WU73
      Related
      ENSP00000385835.1, ENST00000407029.7
      Conserved Domains (2) summary
      smart00707
      Location:24 → 49
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:347 → 380
      SAP; SAP domain

    2. NM_001282661.3 → NP_001269590.2  myocardin-related transcription factor A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 5.
      Source sequence(s)
      BC021586, BC064620, BC115039, Z86090
      Consensus CDS
      CCDS74865.2
      UniProtKB/TrEMBL
      A0A087WU73, B0QY83
      Related
      ENSP00000385584.3, ENST00000402042.7
      Conserved Domains (3) summary
      smart00707
      Location:124 → 149
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:397 → 430
      SAP; SAP domain
      cl28310
      Location:383 → 525
      Rho; Transcription termination factor Rho [Transcription]

    3. NM_001282662.3 → NP_001269591.2  myocardin-related transcription factor A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 5.
      Source sequence(s)
      AF368061, BC115039, Z86090
      Consensus CDS
      CCDS74866.2
      UniProtKB/TrEMBL
      A0A087X287, A0A494BZX7, A4FUJ8
      Related
      ENSP00000498277.2, ENST00000651595.2
      Conserved Domains (2) summary
      smart00707
      Location:124 → 149
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:447 → 480
      SAP; SAP domain

    4. NM_001318139.2 → NP_001305068.1  myocardin-related transcription factor A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (1) has a shorter and distinct N-terminus, compared to isoform 5.
      Source sequence(s)
      HG764171
      Consensus CDS
      CCDS82720.1
      UniProtKB/TrEMBL
      A0A087WU73, W0Z7M9
      Related
      ENSP00000498671.1, ENST00000652095.2
      Conserved Domains (2) summary
      smart00707
      Location:59 → 84
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:382 → 415
      SAP; SAP domain

    5. NM_020831.6 → NP_065882.2  myocardin-related transcription factor A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (5).
      Source sequence(s)
      AL022238, AL031594, Z86090
      Consensus CDS
      CCDS93172.1
      UniProtKB/TrEMBL
      A0A087WU73, A0A499FIJ6
      Related
      ENSP00000347847.5, ENST00000355630.10
      Conserved Domains (3) summary
      smart00707
      Location:124 → 149
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:447 → 480
      SAP; SAP domain
      cl28310
      Location:433 → 575
      Rho; Transcription termination factor Rho [Transcription]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      40410289..40636719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      40880672..41108683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969V6.1 GenPept UniProtKB/Swiss-Prot:Q969V6

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