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

Gene ID: 57591, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40410289..40636719, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40880672..41108683, complement)
105.20220307 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. The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity. Hua Y, et al. Bosn J Basic Med Sci, 2022 Jun 1. PMID 34761735, Free PMC Article
  2. MKL1 regulates hepatocellular carcinoma cell proliferation, migration and apoptosis via the COMPASS complex and NF-κB signaling. Liu Z, et al. BMC Cancer, 2021 Nov 6. PMID 34742274, Free PMC Article
  3. MRTFA: A critical protein in normal and malignant hematopoiesis and beyond. Reed F, et al. J Biol Chem, 2021 Jan-Jun. PMID 33722605, Free PMC Article
  4. MRTFA overexpression promotes conversion of human coronary artery smooth muscle cells into lipid-laden foam cells. Alajbegovic A, et al. Vascul Pharmacol, 2021 Jun. PMID 33516965
  5. MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization. Sprenkeler EGG, et al. Blood, 2020 Jun 11. PMID 32128589

See all (181) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Role of CRP2-MRTF interaction in functions of myofibroblasts.
    Title: Role of CRP2-MRTF interaction in functions of myofibroblasts.
  3. SRF/MRTF-A and liver cirrhosis: Pathologic associations.
    Title: SRF/MRTF-A and liver cirrhosis: Pathologic associations.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. MRTF-A regulates Ca(2+) release through CACNA1S.
    Title: MRTF-A regulates Ca(2+) release through CACNA1S.
Submit: New GeneRIF Correction See all GeneRIFs (125)

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
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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)

Genotypes

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_2023_10

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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