RAB18 - RAB18, member RAS oncogene family Gene

中文名称：RAB18，RAS 致癌基因家族成员

种属: Homo sapiens

同用名: WARBM3; RAB18LI1

基因 ID: 22931 | 基因类型: protein coding

关于 RAB18

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,504,304-27,542,239 (from NCBI)

This gene has 45 transcripts (splice variants), 183 orthologues, 68 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 Ras 相关小 GTP 酶家族的成员，该家族调节细胞器和运输囊泡中的膜运输。斑马鱼的敲低研究表明，这种蛋白质可能在眼睛和大脑发育中起作用。该基因的突变与 3 型 Warburg 微综合征有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 1 月]

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

RAB18 基因产物(4)

mRNA	Protein	Name
NM_001256410.2	NP_001243339.1	ras-related protein Rab-18 isoform 2
NM_001256411.2	NP_001243340.1	ras-related protein Rab-18 isoform 3
NM_001256412.2	NP_001243341.1	ras-related protein Rab-18 isoform 5
NM_021252.5	NP_067075.1	ras-related protein Rab-18 isoform 1

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 GDP binding	IDA IDA: 通过直接分析推断	20937701	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23935497	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endoplasmic reticulum tubular network organization	IMP IMP: 通过突变表型推断	24891604	GOA
acts upstream of or within lipid droplet organization	IMP IMP: 通过突变表型推断	24239381	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum tubular network	IDA IDA: 通过直接分析推断	24891604	GOA
located in lipid droplet	IDA IDA: 通过直接分析推断	30970241	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

RAB18 蛋白结构

Ras

0
100
206 a.a.

蛋白主名

其他名称

ras-related protein Rab-18

RAB18 small GTPase

RAB18 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	RAB18	Q9NP72	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
种属内	RAB18	Q9NP72	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
种属内	RAB18	Q9NP72	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
种属内	RAB18	Q9NP72	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
种属内	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Y2H Prey Pooling	25416956
种属内	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Y2H Array	25416956
种属内	RAB18	Q9NP72	TAX1BP1	Homo sapiens	Q86VP1	Validated Y2H	25416956
种属间	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	EM	23935497
种属间	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Imaging	23935497
种属间	RAB18	Q9NP72	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Pull Down	23935497

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

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Rab18 Deficiency

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome	MRD38
Prelds	Autosomal Dominant Non-Syndromic Intellectual Disability 38
Mental Retardation, Autosomal Dominant 38	Autosomal Dominant Intellectual Developmental Disorder 38
Autosomal Dominant Mental Retardation 38	Mental Retardation, Autosomal Dominant, Type 38

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2

Carpenter Syndrome 1

Carpenter Syndrome	Acrocephalopolysyndactyly Type Ii
Acps Ii	CRPT1
Acrocephalopolysyndactyly Type 2	Acrocephalosyndactyly, Type Ii
Acrocephalopolysyndactyly 2	Acps2
Acps 2	Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1	Apert-Crouzon Disease

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11526	RAB18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	RAB18	VGNC	VGNC:33624
Felis catus	RAB18	VGNC	VGNC:97582
Macaca mulatta	RAB18	VGNC	VGNC:106095
Canis familiaris	RAB18	VGNC	VGNC:45257
Mus musculus	RAB18	MGD	MGI:102790
Rattus norvegicus	RAB18	RGD	RGD:1308905

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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