1. Gene
  2. RUNX1T1 - RUNX1 partner transcriptional co-repressor 1 Gene

RUNX1T1 - RUNX1 partner transcriptional co-repressor 1 Gene

中文名称:RUNX1 伙伴转录辅抑制因子 1

种属: Homo sapiens

同用名: CDR; ETO; MTG8; AML1T1; ZMYND2; CBFA2T1; AML1-MTG8

基因 ID: 862 | 基因类型: protein coding

关于 RUNX1T1

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:91,954,967-92,103,385 (from NCBI)

This gene has 52 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 92 phenotypes. Ubiquitous expression in endometrium (RPKM 1.9), brain (RPKM 1.3) and 22 other tissues.

功能概要

该基因编码骨髓易位基因家族的一个成员,该家族与 DNA 结合的转录因子相互作用并募集一系列辅抑制因子以促进转录抑制。 t (8;21) (q22;q22) 易位是急性髓性白血病中最常见的核型异常之一。易位产生一个嵌合基因,该基因由 runt 相关转录因子 1 基因的 5' 区域与该基因的 3' 区域融合而成。嵌合蛋白被认为与核辅阻遏物/组蛋白脱乙酰酶复合物相关联以阻断造血分化。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 11 月]

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

RUNX1T1 基因产物(16)

mRNA Protein Name
NM_001198625.2 NP_001185554.1 protein CBFA2T1 isoform A
NM_001198626.2 NP_001185555.1 protein CBFA2T1 isoform B
NM_001198627.2 NP_001185556.1 protein CBFA2T1 isoform B
NM_001198628.2 NP_001185557.1 protein CBFA2T1 isoform B
NM_001198629.2 NP_001185558.1 protein CBFA2T1 isoform B
NM_001198630.2 NP_001185559.1 protein CBFA2T1 isoform B
NM_001198631.2 NP_001185560.1 protein CBFA2T1 isoform B
NM_001198632.2 NP_001185561.1 protein CBFA2T1 isoform A
NM_001198633.2 NP_001185562.1 protein CBFA2T1 isoform D
NM_001198634.2 NP_001185563.1 protein CBFA2T1 isoform E
NM_001198679.3 NP_001185608.1 protein CBFA2T1 isoform F
NM_001395209.1 NP_001382138.1 protein CBFA2T1 isoform G
NM_004349.4 NP_004340.1 protein CBFA2T1 isoform A
NM_175634.3 NP_783552.1 protein CBFA2T1 isoform B
NM_175635.3 NP_783553.1 protein CBFA2T1 isoform C
NM_175636.2 NP_783554.1 protein CBFA2T1 isoform C
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
10688654 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10973986 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
10688654 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
23251453 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear matrix IDA
IDA: 通过直接分析推断
10973986 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RUNX1T1 蛋白结构

TAFH

TAFH: NHR1 homology to TAF (121 - 214)

NHR2

NHR2: NHR2 domain like (337 - 403)

zf-MYND

zf-MYND: MYND finger (515 - 551)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 604 a.a.
蛋白主名 其他名称

protein CBFA2T1

RUNX1 translocation partner 1

RUNX1T1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra RUNX1T1 Q06455 NCOR1 Homo sapiens O75376
NMR
17572682
Intra RUNX1T1 Q06455 NCOR1 Homo sapiens O75376
Anti Bait CoIP
18952841
Intra RUNX1T1 Q06455 NCOR1 Homo sapiens O75376
Y2H
17572682
Intra RUNX1T1 Q06455 NCOR1 Homo sapiens O75376
Anti Tag CoIP
18952841
Intra RUNX1T1 Q06455 PRDM14 Homo sapiens Q9GZV8
Y2H Array
20211142
Cross RUNX1T1 Q06455 Son Mus musculus Q9QX47
Y2H
18952841
Cross RUNX1T1 Q06455 Son Mus musculus Q9QX47
Anti Tag CoIP
18952841
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation

Aml With T(8

21)(Q22

Q22) Translocation

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Nk-Cell Enteropathy
Core Binding Factor Acute Myeloid Leukemia

Cbf Acute Myeloid Leukemia

Cbf-Aml

Core-Binding Factor Aml

Hematologic Cancer

Hematologic Neoplasm

Hematologic Neoplasms

Hematologic Malignancies

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Childhood Leukemia
Myeloid Leukemia Associated With Down Syndrome
Myeloid Sarcoma

Granulocytic Sarcoma

Chloroma

Extramedullary Myeloid Tumor

Sarcoma, Granulocytic

Sarcoma Granulocytic

Sarcoma, Myeloid

Myelosarcoma

Myeloid Sarcoma Disease

Myeloid Sarcoma Nos

Myeloid Sarcoma Without Mention Of Remission

Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia

Acute Leukemia Of Ambiguous Lineage

Acute Undifferentiated Leukemia

Acute Leukemia Of Indeterminate Lineage

Hybrid Acute Leukemia

Mixed Lineage Acute Leukemia

All With Myeloid Markers

Aml With Lymphoid Markers

Acute Leukemia Of Undetermined Lineage

Bal

Biphenotypic Acute Leukemia

Undifferentiated Acute Leukemia

Mpal

Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

Leukemia, Biphenotypic, Acute

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

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, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus RUNX1T1 MGD MGI:104793
Macaca mulatta RUNX1T1 VGNC VGNC:80259
Bos taurus RUNX1T1 VGNC VGNC:55756
Canis familiaris RUNX1T1 VGNC VGNC:80256
Rattus norvegicus RUNX1T1 RGD RGD:1305490
Felis catus RUNX1T1 VGNC VGNC:80263