1. Gene
  2. RTN4IP1 - reticulon 4 interacting protein 1 Gene

RTN4IP1 - reticulon 4 interacting protein 1 Gene

中文名称:网状细胞 4 相互作用蛋白 1

种属: Homo sapiens

同用名: NIMP; OPA10

基因 ID: 84816 | 基因类型: protein coding

关于 RTN4IP1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:106,570,771-106,630,491 (from NCBI)

This gene has 4 transcripts (splice variants), 270 orthologues, 17 paralogues and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 10.5), placenta (RPKM 7.8) and 24 other tissues.

功能概要

该基因编码一种与网状细胞 4 相互作用的线粒体蛋白,网状细胞是脊髓损伤后再生的有效抑制剂。这种相互作用对于网状细胞诱导的神经突生长抑制可能很重要。该基因的突变可导致视神经萎缩 10 ,伴或不伴共济失调、认知障碍和癫痫发作。该基因在 12 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 1 月]

This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

RTN4IP1 基因产物(2)

mRNA Protein Name
NM_001318746.1 NP_001305675.1 reticulon-4-interacting protein 1, mitochondrial isoform 2
NM_032730.5 NP_116119.2 reticulon-4-interacting protein 1, mitochondrial isoform 1 precursor
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 NADPH dehydrogenase (quinone) activity IDA
IDA: 通过直接分析推断
37884807 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29892012 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ubiquinone biosynthetic process IDA
IDA: 通过直接分析推断
37884807 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrial matrix IDA
IDA: 通过直接分析推断
37884807 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
26593267 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

RTN4IP1 蛋白结构

ADH_N

ADH_N: Alcohol dehydrogenase GroES-like domain (71 - 145)

ADH_zinc_N_2

ADH_zinc_N_2: Zinc-binding dehydrogenase (247 - 393)

  • 0
  • 100
  • 200
  • 300
  • 396 a.a.
蛋白主名 其他名称

reticulon-4-interacting protein 1, mitochondrial

NOGO-interacting mitochondrial protein

RTN4IP1 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
RTN4IP1 Q8WWV3 RELA Homo sapiens Q96CP1
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 HDX Homo sapiens Q7Z353
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 HDX Homo sapiens Q7Z353
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 CTAG1A Homo sapiens P78358
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 SCAF1 Homo sapiens Q9H7N4
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 PPP1R8 Homo sapiens Q12972-2
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 PPP1R8 Homo sapiens Q12972-2
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 SORBS1 Homo sapiens Q9BX66-7
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 SORBS1 Homo sapiens Q9BX66-7
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 SORBS1 Homo sapiens Q9BX66-7
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 MARCHF5 Homo sapiens Q9NX47
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 MARCHF5 Homo sapiens Q9NX47
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 MARCHF5 Homo sapiens Q9NX47
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 PYM1 Homo sapiens Q9BRP8
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 PYM1 Homo sapiens Q9BRP8
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 PYM1 Homo sapiens Q9BRP8
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 ARFGAP3 Homo sapiens Q9NP61
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 ARFGAP3 Homo sapiens Q9NP61
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 ARFGAP3 Homo sapiens Q9NP61
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 SMURF2 Homo sapiens Q9HAU4
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 SMURF2 Homo sapiens Q9HAU4
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 SMURF2 Homo sapiens Q9HAU4
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 ZYX Homo sapiens Q15942
Y2H Array
29892012
种属内
RTN4IP1 Q8WWV3 ZYX Homo sapiens Q15942
Y2H Array
31515488
种属内
RTN4IP1 Q8WWV3 ZYX Homo sapiens Q15942
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 ZYX Homo sapiens Q15942
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 GGA2 Homo sapiens Q9UJY4
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 GGA2 Homo sapiens Q9UJY4
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 GGA2 Homo sapiens Q9UJY4
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 CENPK Homo sapiens Q9BS16
Y2H Prey Pooling
32296183
种属内
RTN4IP1 Q8WWV3 CENPK Homo sapiens Q9BS16
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 CENPK Homo sapiens Q9BS16
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 WWTR1 Homo sapiens Q9GZV5
Y2H Array
32296183
种属内
RTN4IP1 Q8WWV3 WWTR1 Homo sapiens Q9GZV5
Validated Y2H
32296183
种属内
RTN4IP1 Q8WWV3 WWTR1 Homo sapiens Q9GZV5
Y2H Prey Pooling
32296183
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
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10

Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

Optic Atrophy 10

Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Autosomal Recessive Isolated Optic Atrophy

Autosomal Recessive Non-Syndromic Optic Atrophy

Spinal Cord Injury

Spinal Cord Injuries

Optic Atrophy 9

OPA9

Atrophy, Optic, Type 9

Optic Atrophy 7 With Or Without Auditory Neuropathy

Optic Atrophy 7

OPA7

Autosomal Recessive Optic Atrophy, Opa7 Type

Optic Atrophy-7

Atrophy, Optic, Type 7, With/Without Auditory Neuropathy

Infantile Cerebellar-Retinal Degeneration

ICRD

Infantile Cerebellar Retinal Degeneration

Degeneration, Cerebellar-Retinal, Infantile

Optic Atrophy 5

OPA5

Atrophy, Optic, Type 5

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330

Optic Atrophy 6

OPA6

Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive

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

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy

ADCADN

Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy

Adca-Dn Syndrome

Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome

Adca-Dn

Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome

Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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
Macaca mulatta RTN4IP1 VGNC VGNC:77049
Canis familiaris RTN4IP1 VGNC VGNC:45796
Mus musculus RTN4IP1 MGD MGI:2178759
Bos taurus RTN4IP1 VGNC VGNC:34205
Rattus norvegicus RTN4IP1 RGD RGD:1563384
Felis catus RTN4IP1 VGNC VGNC:64812