1. Gene
  2. RTN3 - reticulon 3 Gene

RTN3 - reticulon 3 Gene

中文名称:网状 3

种属: Homo sapiens

同用名: HAP; ASYIP; NSPL2; NSPLII; RTN3-A1

基因 ID: 10313 | 基因类型: protein coding

关于 RTN3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:63,681,450-63,759,891 (from NCBI)

This gene has 14 transcripts (splice variants), 263 orthologues and 4 paralogues. Broad expression in brain (RPKM 157.4), fat (RPKM 54.4) and 23 other tissues.

功能概要

该基因属于高度保守基因的网状家族,优先在神经内分泌组织中表达。该蛋白质家族与 β-淀粉样蛋白转化酶 1 (BACE1) 相互作用并调节其活性,以及 β-淀粉样蛋白的产生。任何网状蛋白表达的增加都会大大减少淀粉样蛋白-β 的产生,这表明网状蛋白是细胞中 BACE1 的负调节剂。已发现该基因编码不同亚型的选择性剪接转录变体,该基因的假基因位于 4 号和 12 号染色体上。[RefSeq 提供,2012 年 5 月]

This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting Enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]

RTN3 基因产物(7)

mRNA Protein Name
NM_001265589.2 NP_001252518.1 reticulon-3 isoform e
NM_001265590.2 NP_001252519.1 reticulon-3 isoform f
NM_001265591.2 NP_001252520.1 reticulon-3 isoform g
NM_006054.4 NP_006045.1 reticulon-3 isoform a
NM_201428.3 NP_958831.1 reticulon-3 isoform b
NM_201429.2 NP_958832.1 reticulon-3 isoform c
NM_201430.3 NP_958833.1 reticulon-3 isoform d
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 protein binding IPI
IPI: 通过物理相互作用推断
15286784 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum tubular network formation IDA
IDA: 通过直接分析推断
25612671 GOA
involved in endoplasmic reticulum tubular network organization IMP
IMP: 通过突变表型推断
18779370 GOA
involved in negative regulation of amyloid-beta formation IDA
IDA: 通过直接分析推断
15286784 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
15286784 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15286784 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
24262037 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

RTN3 蛋白结构

Reticulon

Reticulon: Reticulon (844 - 1013)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1032 a.a.
蛋白主名 其他名称

reticulon-3

ASY interacting protein

RTN3 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
RTN3 O95197 PTPN9 Homo sapiens Q6IQ43
Y2H Prey Pooling
25416956
种属内
RTN3 O95197 PTPN9 Homo sapiens Q6IQ43
Y2H Array
25416956
种属内
RTN3 O95197 PTPN9 Homo sapiens Q6IQ43
Validated Y2H
25416956
种属内
RTN3 O95197 PPP2R3C Homo sapiens Q969Q6
Y2H Array
25416956
种属内
RTN3 O95197 SNX1 Homo sapiens Q13596
Y2H Prey Pooling
25416956
种属内
RTN3 O95197 SNX1 Homo sapiens Q13596
Validated Y2H
25416956
种属内
RTN3 O95197 CDIPT Homo sapiens O14735
Y2H Array
25416956
种属内
RTN3 O95197 CDIPT Homo sapiens O14735
Y2H Prey Pooling
25416956
种属内
RTN3 O95197 TERF1 Homo sapiens P54274
Pull Down
21044950
种属内
RTN3 O95197 TERF1 Homo sapiens P54274
BiFC
21044950
种属内
RTN3 O95197 RTN4 Homo sapiens Q9NQC3
Anti Tag CoIP
33961781
种属内
RTN3 O95197 RTN4 Homo sapiens Q9NQC3
Y2H Pooling
16189514
种属内
RTN3 O95197 RTN4 Homo sapiens Q9NQC3
MAPPIT
25416956
种属内
RTN3 O95197 CERT1 Homo sapiens Q9Y5P4
Y2H Array
29892012
种属内
RTN3 O95197 CERT1 Homo sapiens Q9Y5P4
Y2H Array
31515488
种属内
RTN3 O95197 PTPN9 Homo sapiens P43378
Y2H Array
31515488
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
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Rattus norvegicus RTN3 RGD RGD:620988
Mus musculus RTN3 MGD MGI:1339970
Macaca mulatta RTN3 VGNC VGNC:76945
Felis catus RTN3 VGNC VGNC:81946
Canis familiaris RTN3 VGNC VGNC:59052
Others RTN3 NCBI