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

Gene ID: 57591, updated on 1-Aug-2020

Summary

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
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

Genomic context

See MRTFA in Genome Data Viewer
Location:
22q13.1-q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (40410289..40636719, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40806292..41032690, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene SGSM3 antisense RNA 1 Neighboring gene adenylosuccinate lyase Neighboring gene small G protein signaling modulator 3 Neighboring gene MRTFA antisense RNA 1 Neighboring gene uncharacterized LOC105373037 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 3 Neighboring gene ribosomal protein L4 pseudogene 6 Neighboring gene uncharacterized LOC105373038 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2152 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
IMMUNODEFICIENCY 66
MedGen: CN280119 OMIM: 618847 GeneReviews: Not available
Compare labs

NHGRI 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.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001282660.2NP_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
    Q969V6
    UniProtKB/TrEMBL
    A4FUJ8
    Related
    ENSP00000385835.1, ENST00000407029.7
    Conserved Domains (2) summary
    smart00707
    Location:2449
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:347380
    SAP; SAP domain
  2. NM_001282661.3NP_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
    CCDS74865.1
    Related
    ENSP00000385584.2, ENST00000402042.6
    Conserved Domains (3) summary
    smart00707
    Location:124149
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:397430
    SAP; SAP domain
    cl28310
    Location:383525
    Rho; Transcription termination factor Rho [Transcription]
  3. NM_001282662.3NP_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
    CCDS74866.1
    Related
    ENSP00000498277.1, ENST00000651595.1
    Conserved Domains (2) summary
    smart00707
    Location:124149
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:447480
    SAP; SAP domain
  4. NM_001318139.2NP_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
    A4FUJ8, W0Z7M9
    Related
    ENSP00000498671.1, ENST00000652095.2
    Conserved Domains (2) summary
    smart00707
    Location:5984
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:382415
    SAP; SAP domain
  5. NM_020831.6NP_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
    Related
    ENSP00000347847.4, ENST00000355630.9
    Conserved Domains (3) summary
    smart00707
    Location:124149
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:447480
    SAP; SAP domain
    cl28310
    Location:433575
    Rho; Transcription termination factor Rho [Transcription]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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