2. Gene
  3. EDF1 - endothelial differentiation related factor 1 Gene

EDF1 - endothelial differentiation related factor 1 Gene

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

中文名称：内皮分化相关因子 1

种属: Homo sapiens

同用名: MBF1; EDF-1; CFAP280

基因 ID: 8721 | 基因类型: protein coding

关于 EDF1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,862,119-136,866,308 (from NCBI)

This gene has 3 transcripts (splice variants) and 223 orthologues. Ubiquitous expression in duodenum (RPKM 113.1), small intestine (RPKM 111.7) and 25 other tissues.

功能概要

该基因编码的蛋白质可能调节内皮细胞分化、脂质代谢和激素诱导的心肌细胞肥大。还发现编码的蛋白质通过将一般转录因子 TATA 元件结合蛋白 (TBP) 和基因特异性激活剂相互连接来充当转录共激活剂。交替剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

EDF1 基因产物(5)

mRNA Protein Name
NM_001281297.2 NP_001268226.1 endothelial differentiation-related factor 1 isoform 3
NM_001281298.2 NP_001268227.1 endothelial differentiation-related factor 1 isoform 4
NM_001281299.2 NP_001268228.1 endothelial differentiation-related factor 1 isoform 5
NM_003792.4 NP_003783.1 endothelial differentiation-related factor 1 isoform alpha
NM_153200.3 NP_694880.1 endothelial differentiation-related factor 1 isoform beta
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 TFIID-class transcription factor complex binding IDA
IDA: 通过直接分析推断
12040021 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10567391 GOA
enables transcription coactivator activity IMP
IMP: 通过突变表型推断
10567391 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA binding IDA
IDA: 通过直接分析推断
10567391 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10567391 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
10567391 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10567391 GOA
located in nucleus IMP
IMP: 通过突变表型推断
10567391 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

EDF1 蛋白结构

MBF1

MBF1: Multiprotein bridging factor 1 (4 - 73)

HTH_3

HTH_3: Helix-turn-helix (81 - 132)

  • 0
  • 100
  • 148 a.a.
蛋白主名 其他名称

endothelial differentiation-related factor 1

multiprotein bridging factor 1

重组 EDF1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70209 EDF1/MBF1 Protein, Human (His) O60869 (A2-K148) ≥95%

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 50

DFNA50

Autosomal Dominant Nonsyndromic Deafness 50

Autosomal Dominant Deafness 50

Deafness, Autosomal Dominant, Type 50
Brachydactyly, Type A1

Brachydactyly Type A1

BDA1

Farabee-Type Brachydactyly

Farabee Type Brachydactyly

Brachydactyly Farabee Type

Brachydactyly, Farabee Type

Brachydactyly A1

Brachydactyly
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04160 EDF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris EDF1 VGNC VGNC:40197
Bos taurus EDF1 VGNC VGNC:28325
Mus musculus EDF1 MGD MGI:1891227
Felis catus EDF1 VGNC VGNC:61725
Macaca mulatta EDF1 VGNC VGNC:72154
Rattus norvegicus EDF1 RGD RGD:1308073
Others EDF1 NCBI
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