2. Gene
  3. RTN3 - reticulon 3 Gene

RTN3 - reticulon 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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

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

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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12331 RTN3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

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
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