1. Gene
  2. ENSA - endosulfine alpha Gene

ENSA - endosulfine alpha Gene

中文名称:内硫素α

种属: Homo sapiens

同用名: ARPP-19e

基因 ID: 2029 | 基因类型: protein coding

关于 ENSA

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,621,246-150,629,612 (from NCBI)

This gene has 15 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 40.0), esophagus (RPKM 33.5) and 25 other tissues.

功能概要

该基因编码的蛋白质属于高度保守的 cAMP 调节磷蛋白 (ARPP) 家族。该蛋白被鉴定为磺酰脲类受体 ABCC8/SUR1 的内源性配体。 ABCC8 是 ATP 敏感性钾 (KATP) 通道的调节亚基,位于胰腺 β 细胞的质膜上,在控制胰腺 β 细胞释放胰岛素方面起着关键作用。这种蛋白质被认为是 KATP 通道的内源性调节剂。体外研究表明,该蛋白通过与 KATP 通道相互作用调节胰岛素分泌,该基因已被提议作为 2 型糖尿病的候选基因。已观察到至少八种编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of Insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates Insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

ENSA 基因产物(8)

mRNA Protein Name
NM_004436.4 NP_004427.1 alpha-endosulfine isoform 3
NM_207042.2 NP_996925.1 alpha-endosulfine isoform 1
NM_207043.2 NP_996926.1 alpha-endosulfine isoform 2
NM_207044.2 NP_996927.1 alpha-endosulfine isoform 4
NM_207045.2 NP_996928.1 alpha-endosulfine isoform 5
NM_207046.2 NP_996929.1 alpha-endosulfine isoform 6
NM_207047.2 NP_996930.1 alpha-endosulfine isoform 7
NM_207168.2 NP_997051.1 alpha-endosulfine isoform 8
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables potassium channel inhibitor activity IDA
IDA: 通过直接分析推断
9653196 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
enables signaling receptor binding IDA
IDA: 通过直接分析推断
9653196 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within regulation of insulin secretion IDA
IDA: 通过直接分析推断
9653196 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

ENSA 蛋白结构

Endosulfine

Endosulfine: cAMP-regulated phosphoprotein/endosulfine conserved region (32 - 83)

  • 0
  • 100
  • 121 a.a.
蛋白主名 其他名称

alpha-endosulfine

重组 ENSA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74175 ENSA Protein, Human (His) O43768-1 (M1-E121) ≥95%
HY-P77544 ENSA Protein, Human (Biotinylated, His) O43768-1 (M1-E121) ≥95%

关联疾病

疾病名称 别名
Type 1 Diabetes Mellitus 11

Diabetes Mellitus, Insulin-Dependent, 11

Iddm11

Insulin-Dependent Diabetes Mellitus 11

T1D11

Insulin-Dependent Diabetes Mellitus-11

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Rattus norvegicus ENSA RGD RGD:62007
Felis catus ENSA VGNC VGNC:61877
Mus musculus ENSA MGD MGI:1891189
Canis familiaris ENSA VGNC VGNC:40379
Macaca mulatta ENSA VGNC VGNC:99904
Bos taurus ENSA VGNC VGNC:50171
Others ENSA NCBI