RILP - Rab interacting lysosomal protein Gene

中文名称：Rab 相互作用溶酶体蛋白

种属: Homo sapiens

同用名: PP10141

基因 ID: 83547 | 基因类型: protein coding

关于 RILP

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,646,150-1,649,866 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 185 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 11.4), duodenum (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码一种与 RAB7 相互作用的溶酶体蛋白，RAB7 是一种控制转运至内吞降解区室的小 GTP 酶。使用这两种蛋白质的突变形式的研究表明，这种蛋白质代表 RAB7 的下游效应子，并且这两种蛋白质在晚期内吞运输的调节中共同作用。这种蛋白质的一个独特区域也被证明参与溶酶体形态的调节。[RefSeq 提供，2011 年 9 月]

This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]

RILP 基因产物(1)

mRNA	Protein	Name
NM_031430.3	NP_113618.2	rab-interacting lysosomal protein

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 dynein light intermediate chain binding	IPI IPI: 通过物理相互作用推断	25272277	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15933719	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	18272684	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in early endosome to late endosome transport	IMP IMP: 通过突变表型推断	17959629	GOA
involved in endosome to lysosome transport	IMP IMP: 通过突变表型推断	18272684	GOA
involved in endosome transport via multivesicular body sorting pathway	IDA IDA: 通过直接分析推断	17010938	GOA
involved in intralumenal vesicle formation	IMP IMP: 通过突变表型推断	17959629	GOA
involved in negative regulation of protein catabolic process	IDA IDA: 通过直接分析推断	17010938	GOA
involved in positive regulation of protein catabolic process	IMP IMP: 通过突变表型推断	17959629	GOA
involved in regulation of multivesicular body size	IDA IDA: 通过直接分析推断	17010938	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in late endosome	IDA IDA: 通过直接分析推断	17010938	GOA
located in lysosome	IDA IDA: 通过直接分析推断	18272684	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

RILP 蛋白结构

Jnk-SapK_ap_N

RILP

0
100
200
300
401 a.a.

蛋白主名

其他名称

rab-interacting lysosomal protein

RILP 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	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Pull Down	25500191
种属内	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Y2H	15933719
种属内	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Anti Tag CoIP	33961781
种属内	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	GMS	30721249
种属内	RILP	Q96NA2	RAB7A	Homo sapiens	P51149	Pull Down	18787122
种属内	RILP	Q96NA2	VPS41	Homo sapiens	P49754	Pull Down	25445562
种属内	RILP	Q96NA2	VPS41	Homo sapiens	P49754	IF	25445562

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

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b	CMT2B
Hmsn Iib	Hmsn2b
Charcot-Marie-Tooth Disease, Type 2b	Hereditary Motor And Sensory Neuropathy Iib
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b	Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b	Charcot-Marie-Tooth Neuropathy, Type 2b
Hereditary Motor And Sensory Nueropathy Iib	Cmt 2b
Charcot Marie Tooth Disease Type 2b	Charcot-Marie-Tooth Disease, Neuronal, Type 2b
Hereditary Motor And Sensory Neuropathy 2 B	Peripheral Sensory Neuropathy, Autosomal Dominant
Charcot-Marie-Tooth Disease 2b	Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Disease Neuronal Type 2b	Peripheral Sensory Neuropathy Autosomal Dominant
Psn

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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-RS11973	RILP 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	RILP	VGNC	VGNC:82422
Rattus norvegicus	RILP	RGD	RGD:1307691
Macaca mulatta	RILP	VGNC	VGNC:76866
Bos taurus	RILP	VGNC	VGNC:33966
Mus musculus	RILP	MGD	MGI:2144271
Canis familiaris	RILP	VGNC	VGNC:45576

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RILP - Rab interacting lysosomal protein Gene

关于 RILP

功能概要

RILP 基因产物(1)

RILP 蛋白结构

RILP 蛋白互作信息

关联疾病

直系同源

热门区域

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RILP - Rab interacting lysosomal protein Gene

关于 RILP

功能概要

RILP 基因产物(1)

RILP 蛋白结构

RILP 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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