SCNN1D - sodium channel epithelial 1 subunit delta Gene

中文名称：钠通道上皮 1 亚基三角洲

种属: Homo sapiens

同用名: ENaCd; SCNED; dNaCh; ENaCdelta

基因 ID: 6339 | 基因类型: protein coding

关于 SCNN1D

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,280,436-1,292,025 (from NCBI)

This gene has 8 transcripts (splice variants), 113 orthologues and 8 paralogues. Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues.

功能概要

预测可启用配体门控钠通道活性。预计参与钠离子跨膜转运。位于肌动蛋白细胞骨架和质膜中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable ligand-gated Sodium Channel activity. Predicted to be involved in sodium ion transmembrane transport. Located in actin Cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SCNN1D 基因产物(1)

mRNA	Protein	Name
NM_001130413.4	NP_001123885.2	amiloride-sensitive sodium channel subunit delta

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 protein binding	IPI IPI: 通过物理相互作用推断	14645214	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to acidic pH	IDA IDA: 通过直接分析推断	16423824	GOA
involved in intracellular sodium ion homeostasis	IDA IDA: 通过直接分析推断	16423824	GOA
involved in sodium ion import across plasma membrane	IDA IDA: 通过直接分析推断	16423824	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in membrane	IDA IDA: 通过直接分析推断	19812697	GOA
part of sodium channel complex	IDA IDA: 通过直接分析推断	16423824	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

SCNN1D 蛋白结构

ASC

0
100
200
300
400
500
600
638 a.a.

蛋白主名

其他名称

amiloride-sensitive sodium channel subunit delta

delta-ENaC

SCNN1D 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
种属内	SCNN1D	P51172	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	14645214
种属内	SCNN1D	P51172	COMMD1	Homo sapiens	Q8N668	Y2H	14645214

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

Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Abdominal Obesity-Metabolic Syndrome	Abdominal Obesity Metabolic Syndrome
Metabolic Syndrome X	Aoms2
Aoms1

Liddle Syndrome 1

Liddle Syndrome	Pseudoaldosteronism
Liddle'S Syndrome	LIDLS1
Lidls	Pseudohyperaldosteronism
Pseudoprimary Hyperaldosteronism	Pseudohyperaldosteronism Type 1
Liddles Syndrome

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1	PKD1
Adpkd	Polycystic Kidney Disease, Adult, Type I
Apkd1	Potter Type Iii Polycystic Kidney Disease
Polycystic Kidney Disease, Adult	Potter Type Iii Polycystic Kidney Disease, Formerly
Polycystic Kidney Disease, Type 1	Adpkd1
Adult Polycystic Kidney Disease Type 1	Autosomal Dominant Polycystic Kidney Disease 1
Pkd-1	Polycystic Kidney Disease Adult
Polycystic Kidney Disease Type I	Polycystic Kidneys
Polycystic Kidney Disease, Adult Type I	Polycystic Kidney Type 1 Autosomal Dominant Disease
Kidney Disease, Polycystic, Type 1	Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Type 1 Autosomal Dominant Disease	Polycystic Kidney Diseases

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SCNN1D - sodium channel epithelial 1 subunit delta Gene

关于 SCNN1D

功能概要

SCNN1D 基因产物(1)

SCNN1D 蛋白结构

SCNN1D 蛋白互作信息

关联疾病

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SCNN1D - sodium channel epithelial 1 subunit delta Gene

关于 SCNN1D

功能概要

SCNN1D 基因产物(1)

SCNN1D 蛋白结构

SCNN1D 蛋白互作信息

关联疾病

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热门区域

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F

G

H

J

L

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Q

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