2. Gene
  3. RUBCN - rubicon autophagy regulator Gene

RUBCN - rubicon autophagy regulator Gene

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

中文名称：Rubicon 自噬调节因子

种属: Homo sapiens

同用名: SCAR15; RUBICON; KIAA0226

基因 ID: 9711 | 基因类型: protein coding

关于 RUBCN

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:197,668,867-197,749,820 (from NCBI)

This gene has 10 transcripts (splice variants), 133 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.0), brain (RPKM 6.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质是自噬和内吞运输的负调节因子，并控制内体成熟。该蛋白包含两个保守结构域，一个 N 端 RUN 结构域和一个 C 端 DUF4206 结构域。 RUN 结构域参与 Ras 样 GTPase 信号传导，而 DUF4206 结构域包含二酰甘油 (DAG) 结合样基序。该基因的突变导致 DAG 结合样基序的缺失并导致隐性共济失调。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2014 年 4 月]

The protein encoded by this gene is a negative regulator of Autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

RUBCN 基因产物(3)

mRNA Protein Name
NM_001145642.5 NP_001139114.1 run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 1
NM_001346873.2 NP_001333802.1 run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 3
NM_014687.4 NP_055502.1 run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 2
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 phosphatidylinositol 3-kinase inhibitor activity IDA
IDA: 通过直接分析推断
21062745 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19270696 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of autophagosome maturation IMP
IMP: 通过突变表型推断
21062745 GOA
involved in negative regulation of autophagy IMP
IMP: 通过突变表型推断
19270696 GOA
involved in negative regulation of endocytosis IMP
IMP: 通过突变表型推断
19270696 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
21062745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT colocalizes with Golgi apparatus IDA
IDA: 通过直接分析推断
19270696 GOA
located in early endosome IDA
IDA: 通过直接分析推断
19270696 GOA
located in late endosome IDA
IDA: 通过直接分析推断
19270696 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

RUBCN 蛋白结构

RUN

RUN: RUN domain (56 - 176)

zf-RING_9

zf-RING_9: Putative zinc-RING and/or ribbon (737 - 938)

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

run domain Beclin-1-interacting and cysteine-rich domain-containing protein

RUN and cysteine rich domain containing beclin 1 interacting protein

RUBCN 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
RUBCN Q92622 PIK3C3 Homo sapiens Q8NEB9
Pull Down
21062745
种属内
RUBCN Q92622 PIK3C3 Homo sapiens Q8NEB9
Anti Tag CoIP
21062745
种属内
RUBCN Q92622 PIK3C3 Homo sapiens Q8NEB9
TAP
21062745
种属内
RUBCN Q92622 PIK3C3 Homo sapiens Q8NEB9
Anti Tag CoIP
33961781
种属内
RUBCN Q92622 ANKRD11 Homo sapiens X5D778
Validated Y2H
32296183
种属内
RUBCN Q92622 UVRAG Homo sapiens Q9P2Y5
Anti Tag CoIP
33961781
种属内
RUBCN Q92622 UVRAG Homo sapiens Q9P2Y5
Anti Tag CoIP
22493499
种属内
RUBCN Q92622 UVRAG Homo sapiens Q9P2Y5
Anti Tag CoIP
21062745
种属内
RUBCN Q92622 UVRAG Homo sapiens Q9P2Y5
TAP
21062745
种属内
RUBCN Q92622 EGFR Homo sapiens P00533
Anti Bait CoIP
25594178
种属内
RUBCN Q92622 DPF2 Homo sapiens Q92785
Validated Y2H
32296183
种属内
RUBCN Q92622 ENKD1 Homo sapiens Q9H0I2
Validated Y2H
32296183
种属内
RUBCN Q92622 NME7 Homo sapiens Q9Y5B8
Validated Y2H
32296183
种属内
RUBCN Q92622 BECN1 Homo sapiens Q14457
Anti Tag CoIP
22493499
种属内
RUBCN Q92622 BECN1 Homo sapiens Q14457
Anti Tag CoIP
33961781
种属内
RUBCN Q92622 BECN1 Homo sapiens Q14457
TAP
21062745
种属内
RUBCN Q92622 BECN1 Homo sapiens Q14457
Anti Bait CoIP
25594178
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
Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15

SCAR15

Salih Ataxia

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia, Autosomal Recessive, 15

Ataxia, Spinocerebellar, Autosomal Recessive, Type 15
Hypotonia
Spinocerebellar Ataxia, Autosomal Recessive 22

SCAR22

Autosomal Recessive Spinocerebellar Ataxia 22

Spinocerebellar Ataxia, Autosomal Recessive, 22

Ataxia, Spinocerebellar, Autosomal Recessive, Type 22
Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27

Autosomal Recessive Spinocerebellar Ataxia 27

Spinocerebellar Ataxia, Autosomal Recessive, 27
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-RS12343 RUBCN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RUBCN VGNC VGNC:64816
Mus musculus RUBCN MGD MGI:1915160
Rattus norvegicus RUBCN RGD RGD:1305422
Canis familiaris RUBCN VGNC VGNC:45801
Bos taurus RUBCN VGNC VGNC:34212
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