U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 223701, updated on 27-Nov-2024

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 negative regulation of apoptotic process; nervous system development; and positive regulation of DNA-templated transcription. 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, Nov 2024]
Expression
Ubiquitous expression in spleen adult (RPKM 34.3), thymus adult (RPKM 29.0) and 27 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Mrtfa in Genome Data Viewer
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_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene 6612 Neighboring gene adenylosuccinate lyase Neighboring gene small G protein signaling modulator 3 Neighboring gene STARR-seq mESC enhancer starr_39247 Neighboring gene predicted gene, 31462 Neighboring gene predicted gene, 25131 Neighboring gene STARR-seq mESC enhancer starr_39250 Neighboring gene RIKEN cDNA 4930483J18 gene Neighboring gene STARR-positive B cell enhancer ABC_E943 Neighboring gene predicted gene, 49537

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Targeted (2)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

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)

  1. NM_001082536.2NP_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:168193
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:453483
    SAP; SAP domain
  2. NM_153049.3NP_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:103128
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:385418
    SAP; SAP domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    80896482..81074937 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)