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

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; 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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Role of CRP2-MRTF interaction in functions of myofibroblasts.
Title: Role of CRP2-MRTF interaction in functions of myofibroblasts.
SRF/MRTF-A and liver cirrhosis: Pathologic associations.
Title: SRF/MRTF-A and liver cirrhosis: Pathologic associations.
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.
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.
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.
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.
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.
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.
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	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 EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20649 (e-PCR)
- UniSTS:77059

A006A20 (e-PCR)
- UniSTS:77060

D22S279 (e-PCR)
- UniSTS:45572

D22S1120E (e-PCR)
- UniSTS:153970

stbK229A8.SP6 (e-PCR)
- UniSTS:146585

SHGC-81075 (e-PCR)
- UniSTS:103585

D22S279 (e-PCR)
- UniSTS:49338

D22S534 (e-PCR)
- UniSTS:42180

SGC30681 (e-PCR)
- UniSTS:21734

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

NG_065810.1 RefSeqGene

Range

5001..231431

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1427

mRNA and Protein(s)

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
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]
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
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
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]