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MRTFA
HPA
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  • MRTFA
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MRTFA
Synonyms BSAC, KIAA1438, MAL, MKL, MKL1, MRTF-A
Gene descriptioni

Full gene name according to HGNC.

Myocardin related transcription factor A
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 22
Cytoband
Chromosome location (bp) 40410281 - 40636719
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

13
Ensembl ENSG00000196588 (version 109)
Entrez gene 57591
HGNC HGNC:14334
UniProt Q969V6 (UniProt - Evidence at protein level)
neXtProt NX_Q969V6
GeneCards MRTFA
Antibodypedia MRTFA antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration 1. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Actin-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MRTFA-201
ENSP00000347847
ENST00000355630
A0A499FIJ6
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
1031 aa
109.5 kDa
No 0
MRTFA-202
ENSP00000385584
ENST00000402042
B0QY83
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
981 aa
104.2 kDa
No 0
MRTFA-203
ENSP00000385076
ENST00000402630
B0QY84
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005737 [cytoplasm]
Show all
161 aa
18.4 kDa
No 0
MRTFA-204
ENSP00000385835
ENST00000407029
Q969V6
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0030036 [actin cytoskeleton organization]
GO:0043522 [leucine zipper domain binding]
GO:0044319 [wound healing, spreading of cells]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0051145 [smooth muscle cell differentiation]
GO:1902895 [positive regulation of miRNA transcription]
Show all
931 aa
98.9 kDa
No 0
MRTFA-205
ENSP00000398478
ENST00000422851
B0QY74
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005737 [cytoplasm]
Show all
73 aa
8.8 kDa
No 0
MRTFA-206
ENSP00000498788
ENST00000463769
A0A494C0Z8
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005737 [cytoplasm]
Show all
100 aa
10.6 kDa
No 0
MRTFA-209
ENSP00000484786
ENST00000614754
A0A087X287
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
799 aa
85.2 kDa
No 0
MRTFA-210
ENSP00000478420
ENST00000620651
A0A087WU73
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
882 aa
93.7 kDa
No 0
MRTFA-213
ENSP00000498277
ENST00000651595
A0A494BZX7
[Direct mapping] Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
898 aa
95.7 kDa
No 0
MRTFA-214
ENSP00000499030
ENST00000651694
A0A494C1G6
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
Show all
47 aa
5.4 kDa
No 0
MRTFA-215
ENSP00000498671
ENST00000652095
W0Z7M9
[Direct mapping] Mkl1 variant 1 Mkl1_S; Myocardin-related transcription factor A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
Show all
966 aa
103 kDa
No 0
MRTFA-216
ENSP00000501275
ENST00000673719
A0A669KBG1
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005737 [cytoplasm]
Show all
111 aa
13 kDa
No 0
MRTFA-217
ENSP00000514741
ENST00000699988
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003713 [transcription coactivator activity]
GO:0003785 [actin monomer binding]
GO:0005737 [cytoplasm]
Show all
261 aa
29 kDa
No 0

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