MRTFA - myocardin related transcription factor A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57591

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 931 a.a.
Protein Preferred Names Protein Names

myocardin-related transcription factor A

  • MKL/myocardin-like protein 1

MRTFA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
MRTFA Q969V6 SRF Homo sapiens P11831
Anti Tag CoIP
14565952
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (7)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-120855 CCG-100602 Inhibitor 99.29% Unkown
HY-13991A (S)-CCG-1423 / Unkown
HY-162968 MRTF-A-IN-1 Inhibitor / Unkown
HY-162969 MRTF-A-IN-2 Inhibitor / Unkown
HY-RS08693 MRTFA Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21655 Mrtfa Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28173 Mrtfa Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others MRTFA NCBI