1. Gene
  2. Scn4a - sodium voltage-gated channel alpha subunit 4 Gene

Scn4a - sodium voltage-gated channel alpha subunit 4 Gene

中文名称:钠电压门控通道 α 亚基 4

种属: Rattus norvegicus

同用名: NCHVS; Nav1.4; microI

基因 ID: 25722 | 基因类型: protein coding

关于 Scn4a

Primary_assembly 10: 91,246,936-91,296,545 reverse strand.mRatBN7.2:CM026983.1

This gene has 1 transcript (splice variant), 191 orthologues, 26 paralogues and is associated with 25 phenotypes. Restricted expression toward (RPKM 389.5).

功能概要

预测该基因编码的蛋白编码的蛋白可启动电压门控钠通道活动。参与胆碱运输;钾离子运输;和钠离子跨膜转运。是质膜的组成部分。该基因的人类直系同源基因与先天性肌无力综合征 16 有关;高血钾性周期性麻痹;和 Von Eulenburg 的先天性副肌强直。与人类 SCN4A(钠电压门控通道 α 亚基 4)同源。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable voltage-gated Sodium Channel activity. Involved in choline transport; potassium ion transport; and sodium ion transmembrane transport. Is integral component of plasma membrane. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4). [provided by Alliance of Genome Resources, Apr 2022]

Scn4a 基因产物(1)

mRNA Protein Name
NM_013178.2 NP_037310.2 sodium channel protein type 4 subunit alpha
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in choline transport IMP
IMP: 通过突变表型推断
20926383 RGD
involved in monoatomic cation transport IMP
IMP: 通过突变表型推断
20926383 RGD
involved in potassium ion transport IMP
IMP: 通过突变表型推断
20926383 RGD
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
16303569 RGD
involved in sodium ion transport IDA
IDA: 通过直接分析推断
20926383 RGD
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
16303569 RGD
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

Scn4a 蛋白结构

Ion_trans

Ion_trans: pfam00520 (129 - 450)

Ion_trans

Ion_trans: pfam00520 (570 - 783)

Na_trans_assoc

Na_trans_assoc: pfam06512 (809 - 1018)

Ion_trans

Ion_trans: pfam00520 (1022 - 1296)

Na_channel_gate

Na_channel_gate: cd13433 (1288 - 1340)

Ion_trans

Ion_trans: pfam00520 (1345 - 1601)

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  • 1840 a.a.
蛋白主名 其他名称

sodium channel protein type 4 subunit alpha

Sodium channel voltage-gated type IV alpha polypeptide

mu-1

skM1

sodium channel protein skeletal muscle subunit alpha

sodium channel protein type IV subunit alpha

sodium channel, voltage-gated, type 4, alpha polypeptide

sodium channel, voltage-gated, type 4, alpha subunit

sodium channel, voltage-gated, type IV, alpha polypeptide

sodium channel, voltage-gated, type IV, alpha subunit

voltage-gated sodium channel subunit alpha Nav1.4

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Scn4a NCBI NCBI:6329