1. Gene
  2. VDAC3 - voltage dependent anion channel 3 Gene

VDAC3 - voltage dependent anion channel 3 Gene

中文名称:电压依赖性阴离子通道 3

种属: Homo sapiens

同用名: VDAC-3; HD-VDAC3

基因 ID: 7419 | 基因类型: protein coding

关于 VDAC3

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,391,761-42,405,937 (from NCBI)

This gene has 12 transcripts (splice variants), 304 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 97.4), testis (RPKM 53.6) and 25 other tissues.

功能概要

该基因编码电压依赖性阴离子通道 (VDAC) ,属于线粒体孔蛋白家族。 VDAC 是小的完整膜蛋白,可穿过线粒体外膜并传导 ATP 和其他小代谢物。已知它们结合多种中间代谢激酶,被认为参与腺嘌呤核苷酸的易位,并被假设形成线粒体通透性转换孔的一部分,导致细胞色素 c 在凋亡细胞死亡开始时释放。或者,已经为该基因描述了编码不同亚型的转录变体。[RefSeq 提供,2011 年 10 月]

This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and Other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

VDAC3 基因产物(12)

mRNA Protein Name
NM_001135694.3 NP_001129166.1 voltage-dependent anion-selective channel protein 3 isoform 2
NM_001413552.1 NP_001400481.1 voltage-dependent anion-selective channel protein 3 isoform 1
NM_001413553.1 NP_001400482.1 voltage-dependent anion-selective channel protein 3 isoform 3
NM_001413554.1 NP_001400483.1 voltage-dependent anion-selective channel protein 3 isoform 4
NM_001413555.1 NP_001400484.1 voltage-dependent anion-selective channel protein 3 isoform 5
NM_001413556.1 NP_001400485.1 voltage-dependent anion-selective channel protein 3 isoform 6
NM_001413557.1 NP_001400486.1 voltage-dependent anion-selective channel protein 3 isoform 7
NM_001413558.1 NP_001400487.1 voltage-dependent anion-selective channel protein 3 isoform 1
NM_001413559.1 NP_001400488.1 voltage-dependent anion-selective channel protein 3 isoform 8
NM_001413560.1 NP_001400489.1 voltage-dependent anion-selective channel protein 3 isoform 9
NM_001413561.1 NP_001400490.1 voltage-dependent anion-selective channel protein 3 isoform 10
NM_005662.7 NP_005653.3 voltage-dependent anion-selective channel protein 3 isoform 1
基因本体论
  • 分子功能
  • 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
29128334 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
27641616 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

VDAC3 蛋白结构

Porin_3

Porin_3: Eukaryotic porin (3 - 276)

  • 0
  • 100
  • 200
  • 283 a.a.
蛋白主名 其他名称

voltage-dependent anion-selective channel protein 3

outer mitochondrial membrane protein porin 3

VDAC3 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
VDAC3 Q9Y277 VDAC2 Homo sapiens P45880 35271311
种属内
VDAC3 Q9Y277 VDAC1 Homo sapiens P21796 35271311
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
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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 VDAC3 VGNC VGNC:82523
Mus musculus VDAC3 MGD MGI:106922
Macaca mulatta VDAC3 VGNC VGNC:84135
Rattus norvegicus VDAC3 RGD RGD:621577
Canis familiaris VDAC3 VGNC VGNC:48248