RBSN - rabenosyn, RAB effector Gene

中文名称：rabenosyn, RAB 效应子

种属: Homo sapiens

同用名: ZFYVE20; Rabenosyn-5

基因 ID: 64145 | 基因类型: protein coding

关于 RBSN

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,070,073-15,099,148 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 10.8), thyroid (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码属于 FYVE 锌指蛋白家族的一种蛋白质。编码的蛋白质与调节膜运输的 Ras 相关蛋白质相互作用。该基因的错义突变与早期内吞途径的缺陷有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

RBSN 基因产物(2)

mRNA	Protein	Name
NM_001302378.2	NP_001289307.1	rabenosyn-5
NM_022340.4	NP_071735.2	rabenosyn-5

基因本体论

分子功能
生物过程

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	15020713	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi to lysosome transport	IMP IMP: 通过突变表型推断	19139087	GOA
involved in early endosome to Golgi transport	IMP IMP: 通过突变表型推断	19139087	GOA
involved in regulation of Golgi organization	IMP IMP: 通过突变表型推断	19139087	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

RBSN 蛋白结构

FYVE

Rbsn

0
200
400
600
784 a.a.

蛋白主名

其他名称

rabenosyn-5

110 kDa protein

RBSN 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
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Y2H Prey Pooling	25416956
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	35271311
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Y2H Array	25416956
Intra	RBSN	Q9H1K0	VPS45	Homo sapiens	Q9NRW7	Anti Tag CoIP	28514442
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Y2H	15020713
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	EHD3	Homo sapiens	Q9NZN3	Anti Tag CoIP	28514442
Intra	RBSN	Q9H1K0	EHD1	Homo sapiens	Q9H4M9	Anti Tag CoIP	33961781
Intra	RBSN	Q9H1K0	EHD1	Homo sapiens	Q9H4M9	Anti Tag CoIP	28514442

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

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency	Scn5

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type	Gd Iii
Gaucher Disease, Chronic Neuronopathic Type	Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease Type 3	GD3
Gaucher'S Disease Type Iii	Gaucher Disease Type Iii
Gd 3	Cerebral Juvenile And Adult Form Of Gaucher Disease
Chronic Neuronopathic Gaucher Disease	Gaucher Disease 3
Cerebral, Juvenile And Adult, Gaucher Disease	Gaucher Disease Chronic Neuronopathic Type
Gaucher Disease Type Ii	Subacute Neuronopathic Gaucher Disease
Type 3 Gaucher Disease	Gaucher Disease, Type 3
Gaucher Disease, Type 2

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11775	RBSN 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	RBSN	RGD	RGD:1305397
Macaca mulatta	RBSN	VGNC	VGNC:76784
Mus musculus	RBSN	MGD	MGI:1925537
Canis familiaris	RBSN	VGNC	VGNC:97217
Bos taurus	RBSN	VGNC	VGNC:33818
Felis catus	RBSN	VGNC	VGNC:64539

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