2. Gene
  3. MRTFA - myocardin related transcription factor A Gene

MRTFA - myocardin related transcription factor A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MAL; MKL; BSAC; MKL1; MRTF-A

Gene ID: 57591 | Gene type: protein coding

About MRTFA

Cytogenetic location: 22q13.1-q13.2 Genomic coordinates (GRCh38): 22:40,410,289-40,636,719 (from NCBI)

This gene has 17 transcripts (splice variants), 58 orthologues, 2 paralogues and is associated with 81 phenotypes. Ubiquitous expression in bone marrow (RPKM 14.0), testis (RPKM 9.1) and 25 other tissues.

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]

MRTFA Products(5)

mRNA Protein Name
NM_001282660.2 NP_001269589.1 myocardin-related transcription factor A isoform 1
NM_001282661.3 NP_001269590.2 myocardin-related transcription factor A isoform 2
NM_001282662.3 NP_001269591.2 myocardin-related transcription factor A isoform 3
NM_001318139.2 NP_001305068.1 myocardin-related transcription factor A isoform 4
NM_020831.6 NP_065882.2 myocardin-related transcription factor A isoform 5

MRTFA Protein Structure

RPEL

RPEL: RPEL repeat (24 - 49)

RPEL

RPEL: RPEL repeat (68 - 91)

SAP

SAP: SAP domain (348 - 380)

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  • 931 a.a.
Protein Preferred Names Protein Names

myocardin-related transcription factor A

MKL/myocardin-like protein 1

Related Diseases

Diseases Alias
Immunodeficiency 66

IMD66
Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(P13;Q13)

Megakaryoblastic Aml With T(1

22)(P13

Q13)
Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

Neutrophil Immunodeficiency Syndrome

IMD73A

Immunodeficiency 73a With Defective Neutrophil Chemotaxix And Leukocytosis

Immunodeficiency, Type 73a, With Defective Neutrophil Chemotaxix And Leukocytosis

Rac 2 Deficiency
Neonatal Leukemia
Spondylometaphyseal Dysplasia, Sedaghatian Type

SMDS

Sedaghatian Chondrodysplasia

Spondylometaphyseal Dysplasia Sedaghatian Type

Congenital Lethal Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia, Congenital Lethal

Lethal Metaphyseal Dysplasia
Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome
Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs
Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-120855 CCG-100602 Inhibitor 99.85% Unkown
HY-13991A (S)-CCG-1423 / Unkown
HY-RS08693 MRTFA Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MRTFA VGNC VGNC:97519
Canis familiaris MRTFA VGNC VGNC:55392
Macaca mulatta MRTFA VGNC VGNC:74753
Bos taurus MRTFA VGNC VGNC:55393
Mus musculus MRTFA MGD MGI:2384495
Rattus norvegicus MRTFA RGD RGD:1304873