1. Gene
  2. ASIC1 - acid sensing ion channel subunit 1 Gene

ASIC1 - acid sensing ion channel subunit 1 Gene

中文名称:酸感应离子通道亚基 1

种属: Homo sapiens

同用名: ASIC; ACCN2; BNaC2

基因 ID: 41 | 基因类型: protein coding

关于 ASIC1

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,057,596-50,083,622 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues and 8 paralogues. Biased expression in brain (RPKM 17.4), prostate (RPKM 1.9) and 3 other tissues.

功能概要

该基因编码酸敏感离子通道 (ASIC) 蛋白家族的成员,该蛋白属于退化蛋白/上皮钠通道 (DEG/ENaC) 超家族的一部分。 ASIC 家族的成员对阿米洛利敏感并在神经传递中发挥作用。编码的蛋白质在学习、疼痛传导、触觉以及记忆和恐惧的发展中发挥作用。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2012 年 2 月]

This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial Sodium Channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

ASIC1 基因产物(10)

mRNA Protein Name
NM_001095.4 NP_001086.2 acid-sensing ion channel 1 isoform b
NM_001256830.2 NP_001243759.1 acid-sensing ion channel 1 isoform c
NM_001412756.1 NP_001399685.1 acid-sensing ion channel 1 isoform d
NM_001412757.1 NP_001399686.1 acid-sensing ion channel 1 isoform b
NM_001412758.1 NP_001399687.1 acid-sensing ion channel 1 isoform e
NM_001412759.1 NP_001399688.1 acid-sensing ion channel 1 isoform f
NM_001412760.1 NP_001399689.1 acid-sensing ion channel 1 isoform f
NM_001412761.1 NP_001399690.1 acid-sensing ion channel 1 isoform g
NM_001412762.1 NP_001399691.1 acid-sensing ion channel 1 isoform g
NM_020039.4 NP_064423.2 acid-sensing ion channel 1 isoform a
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
NOT enables pH-gated monoatomic ion channel activity IDA
IDA: 通过直接分析推断
21036899 GOA
enables pH-gated monoatomic ion channel activity IDA
IDA: 通过直接分析推断
21036899 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11802773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to pH IDA
IDA: 通过直接分析推断
22760635 GOA
involved in sensory perception of sour taste IMP
IMP: 通过突变表型推断
19812697 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
22760635 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
32996060 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
32996060 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
21036899 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
22760635 GOA
is active in postsynaptic density membrane IDA
IDA: 通过直接分析推断
32996060 GOA
is active in postsynaptic density membrane IMP
IMP: 通过突变表型推断
32996060 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

ASIC1 蛋白结构

ASC

ASC: Amiloride-sensitive sodium channel (21 - 456)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 528 a.a.
蛋白主名 其他名称

acid-sensing ion channel 1

Cation channel, amiloride-sensitive, neuronal, 2

ASIC1 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
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
种属内
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
种属内
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
种属内
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
ASIC1 P78348 PICK1 Homo sapiens Q9NRD5
Y2H
11802773
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
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

Frozen Shoulder

Adhesive Capsulitis Of Shoulder

Bursitis

Adhesions-Capsulitis,Shoulder

Pericapsulitis Of Shoulder

Duplay Bursitis

Adhesive Shoulder Peritendinitis

Subscapular Adhesion

Shoulder Adhesion

Adhesive Enthesopathy Of Shoulder Region

Adhesive Peritendinitis

Adhesive Shoulder Tenosynovitis

Duplay Periarthritis

Adhesive Shoulder Tendinitis

Ischemia

Acute Coronary Syndrome

Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder

Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

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 ASIC1 VGNC VGNC:38177
Felis catus ASIC1 VGNC VGNC:59971
Rattus norvegicus ASIC1 RGD RGD:71062
Bos taurus ASIC1 VGNC VGNC:26210
Mus musculus ASIC1 MGD MGI:1194915
Macaca mulatta ASIC1 VGNC VGNC:70035