1. Gene
  2. SCNN1A - sodium channel epithelial 1 subunit alpha Gene

SCNN1A - sodium channel epithelial 1 subunit alpha Gene

中文名称:钠通道上皮 1 亚基 α

种属: Homo sapiens

同用名: BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha

基因 ID: 6337 | 基因类型: protein coding

关于 SCNN1A

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,346,847-6,377,359 (from NCBI)

This gene has 23 transcripts (splice variants), 152 orthologues, 8 paralogues and is associated with 7 phenotypes. Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues.

功能概要

非电压门控、阿米洛利敏感的钠通道控制液体和电解质在许多器官中跨上皮细胞的转运。这些通道是由 3 个亚基组成的异聚复合物:α、β 和γ。该基因编码 α 亚基,该基因的突变与 1 型假性醛固酮增多症 (PHA1) 有关,这是一种罕见的盐消耗性疾病,由靶器官对盐皮质激素无反应引起。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2009 年 4 月]

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

SCNN1A 基因产物(3)

mRNA Protein Name
NM_001038.6 NP_001029.1 amiloride-sensitive sodium channel subunit alpha isoform 1
NM_001159575.2 NP_001153047.1 amiloride-sensitive sodium channel subunit alpha isoform 3
NM_001159576.2 NP_001153048.1 amiloride-sensitive sodium channel subunit alpha isoform 2
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 WW domain binding IPI
IPI: 通过物理相互作用推断
10642508 GOA
contributes to ligand-gated sodium channel activity IDA
IDA: 通过直接分析推断
24124190 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11244092 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 multicellular organismal-level water homeostasis IDA
IDA: 通过直接分析推断
24124190 GOA
involved in sodium ion homeostasis IDA
IDA: 通过直接分析推断
24124190 GOA
involved in sodium ion import across plasma membrane IDA
IDA: 通过直接分析推断
16423824 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
24124190 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
22207244 GOA
located in ciliary membrane IDA
IDA: 通过直接分析推断
22207244 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
28130590 GOA
located in extracellular exosome IDA
IDA: 通过直接分析推断
15326289 GOA
located in motile cilium IDA
IDA: 通过直接分析推断
22207244 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24124190 GOA
part of sodium channel complex IDA
IDA: 通过直接分析推断
16423824 GOA
part of sodium channel complex IPI
IPI: 通过物理相互作用推断
21775436 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

SCNN1A 蛋白结构

ASC

ASC: Amiloride-sensitive sodium channel (62 - 572)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
蛋白主名 其他名称

amiloride-sensitive sodium channel subunit alpha

alpha ENaC-2

SCNN1A 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
SCNN1A P37088 SCNN1G Homo sapiens P51170 21775436
种属内
SCNN1A P37088 SCNN1G Homo sapiens P51170
AFM
21775436
种属间: 跨种属相互作用 种属内: 同种属相互作用

SCNN1A 抗体

目录号 产品名 应用 反应物种
HY-P81204 Alpha-ENaC Antibody WB, ELISA, IHC-P, IHC-F, FC, ICC/IF Human, Mouse, Rat

关联疾病

疾病名称 别名
Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive

Liddle Syndrome 3

LIDLS3

Bronchiectasis With Or Without Elevated Sweat Chloride 2

BESC2

Cystic Fibrosis-Like Syndrome

Bronchiectasis, With/Without Elevated Sweat Chloride, Type 2

Idiopathic Bronchiectasis
Pseudohypoaldosteronism
Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Miliaria Rubra

Miliaria

Prickly Heat

Miliaria Crystallina

Chronic Tubotympanic Suppurative Otitis Media

Chronic Tubotympanic Disease

Benign Chronic Suppurative Otitis Media

Chronic Atticoantral Disease

Chronic Atticoantral Suppurative Otitis Media

Persistent Mucosal Disease

Chronic Atticoantral Disorder

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis

HYCHL

Carbonic Anhydrase Xii Deficiency

Miliaria

Eccrine Miliaria

Heat Rash

Sweat Rash

Sweat Retention Syndrome

Pseudohypoaldosteronism, Type I, Autosomal Dominant

Autosomal Dominant Pseudohypoaldosteronism Type 1

PHA1A

Pseudohypoaldosteronism Type I, Autosomal Dominant

Pseudohypoaldosteronism Type 1 Autosomal Dominant

Renal Pha1

Renal Pseudohypoaldosteronism Type 1

Pha I, Autosomal Dominant

Autosomal Dominant Pha 1

Pseudohypoaldosteronism Type 1, Dominant

Autosomal Dominant Pha1

Pseudohypoaldosteronism 1, Autosomal Dominant

Pha Type I, Autosomal Dominant

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D

Mcc2 Deficiency

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Ii

Methylcrotonylglycinuria, Type Ii

3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Type Ii

Mcgii

Methylcrotonylglycinuria Type Ii

Metabolic Acidosis
Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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
Felis catus SCNN1A VGNC VGNC:97617
Bos taurus SCNN1A VGNC VGNC:49961
Canis familiaris SCNN1A VGNC VGNC:45925
Rattus norvegicus SCNN1A RGD RGD:3639
Macaca mulatta SCNN1A VGNC VGNC:76991
Mus musculus SCNN1A MGD MGI:101782