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

EDF1 - endothelial differentiation related factor 1 Gene

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

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

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