Mrtfa myocardin related transcription factor A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mrtfaprovided by MGI
Official Full Name: myocardin related transcription factor Aprovided by MGI
Primary source: MGI:MGI:2384495
See related: Ensembl:ENSMUSG00000042292 AllianceGenome:MGI:2384495
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mal; AMKL; Bsac; Mkl1; Mrtf-A
Summary: Enables several functions, including actin monomer binding activity; transcription cis-regulatory region binding activity; and transcription coactivator activity. Involved in actin cytoskeleton organization and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including negative regulation of apoptotic signaling pathway; negative regulation of cysteine-type endopeptidase activity; and nervous system development. Located in cytoplasm and nucleus. Is expressed in several structures, including early conceptus; epithelium; gonad; skeletal muscle; and telencephalon. Human ortholog(s) of this gene implicated in acute megakaryocytic leukemia and immunodeficiency 66. Orthologous to human MRTFA (myocardin related transcription factor A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 34.3), thymus adult (RPKM 29.0) and 27 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15 E1; 15 37.98 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (80896482..81074937, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (81012281..81190736, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Macrophage MKL1 contributes to cardiac fibrosis in a mouse model of myocardial infarction.
Title: Macrophage MKL1 contributes to cardiac fibrosis in a mouse model of myocardial infarction.
The actin-binding protein CAP1 represses MRTF-SRF-dependent gene expression in mouse cerebral cortex.
Title: The actin-binding protein CAP1 represses MRTF-SRF-dependent gene expression in mouse cerebral cortex.
MRTF-A gain-of-function in mice impairs homeostatic renewal of the intestinal epithelium.
Title: MRTF-A gain-of-function in mice impairs homeostatic renewal of the intestinal epithelium.
An MRTF-A-ZEB1-IRF9 axis contributes to fibroblast-myofibroblast transition and renal fibrosis.
Title: An MRTF-A-ZEB1-IRF9 axis contributes to fibroblast-myofibroblast transition and renal fibrosis.
Myocardin-related transcription factor A, regulated by serum response factor, contributes to diabetic cardiomyopathy in mice.
Title: Myocardin-related transcription factor A, regulated by serum response factor, contributes to diabetic cardiomyopathy in mice.
MKL1 fuels ROS-induced proliferation of vascular smooth muscle cells by modulating FOXM1 transcription.
Title: MKL1 fuels ROS-induced proliferation of vascular smooth muscle cells by modulating FOXM1 transcription.
MRTF-A-mediated protection against amyloid-beta-induced neuronal injury correlates with restoring autophagy via miR-1273g-3p/mTOR axis in Alzheimer models.
Title: MRTF-A-mediated protection against amyloid-β-induced neuronal injury correlates with restoring autophagy via miR-1273g-3p/mTOR axis in Alzheimer models.
Myocardin-related transcription factor A regulates integrin beta 2 transcription to promote macrophage infiltration and cardiac hypertrophy in mice.
Title: Myocardin-related transcription factor A regulates integrin beta 2 transcription to promote macrophage infiltration and cardiac hypertrophy in mice.
Lamina-associated polypeptide 2alpha is required for intranuclear MRTF-A activity.
Title: Lamina-associated polypeptide 2α is required for intranuclear MRTF-A activity.
MRTF-A regulates myoblast commitment to differentiation by targeting PAX7 during muscle regeneration.
Title: MRTF-A regulates myoblast commitment to differentiation by targeting PAX7 during muscle regeneration.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:237357

RH125357 (e-PCR)
- UniSTS:162179

NoName (e-PCR)
- UniSTS:548524

BB175482 (e-PCR)
- UniSTS:186032

11.MMHAP54FRD8.seq (e-PCR)
- UniSTS:186316

RH125181 (e-PCR)
- UniSTS:162003

AW743281 (e-PCR)
- UniSTS:209113

RH118361 (e-PCR)
- UniSTS:160987

AW821984 (e-PCR)
- UniSTS:209120

Mkl1 (e-PCR), detects polymorphism
- UniSTS:507360

AI852829 (e-PCR)
- UniSTS:164587

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin monomer binding	IDA Inferred from Direct Assay more info	PubMed
enables leucine zipper domain binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in smooth muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in smooth muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in wound healing, spreading of cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: myocardin-related transcription factor A

Names: MKL (megakaryoblastic leukemia)/myocardin-like 1; MKL/myocardin-like protein 1; basic SAP and coiled-coil domains; basic SAP coiled-coil transcription activator; megakaryoblastic leukemia (translocation) 1 homolog; megakaryocytic acute leukemia protein homolog; myocardial related transcription factor A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001082536.2 → NP_001076005.2 myocardin-related transcription factor A isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1. This variant uses a non-AUG translation start codon.

Source sequence(s)

AC102198, AC141880

Consensus CDS

CCDS49674.2

UniProtKB/TrEMBL

A0A5F8MQ33, D3YUI2

Related

ENSMUSP00000159052.2, ENSMUST00000239114.2

Conserved Domains (2) summary

smart00707
Location:168 → 193

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

pfam02037
Location:453 → 483

SAP; SAP domain
NM_153049.3 → NP_694629.2 myocardin-related transcription factor A isoform 1

See identical proteins and their annotated locations for NP_694629.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (1).

Source sequence(s)

AF532597, BC050941, BY208699

Consensus CDS

CCDS37147.1

UniProtKB/Swiss-Prot

Q642U1, Q8K4J6

UniProtKB/TrEMBL

Q3U1I6

Related

ENSMUSP00000105207.3, ENSMUST00000109579.9

Conserved Domains (2) summary

smart00707
Location:103 → 128

RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

pfam02037
Location:385 → 418

SAP; SAP domain