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  3. MRTFA - myocardin related transcription factor A Gene

MRTFA - myocardin related transcription factor A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：心肌素相关转录因子 A

种属: Homo sapiens

同用名: MAL; MKL; BSAC; MKL1; MRTF-A

基因 ID: 57591 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质与转录因子心肌素相互作用，心肌素是平滑肌细胞分化的关键调节因子。编码的蛋白质主要是核蛋白，可能有助于将信号从细胞骨架转导至细胞核。该基因参与特定的易位事件，该事件导致该基因与 RNA 结合基序蛋白 15 基因融合。这种易位与急性巨核细胞白血病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 9 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

myocardin-related transcription factor A

MKL/myocardin-like protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-120855 CCG-100602 Inhibitor 99.85% 否
HY-13991A (S)-CCG-1423 / 否
HY-RS08693 MRTFA Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 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
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