RAB3GAP1 - RAB3 GTPase activating protein catalytic subunit 1 Gene

中文名称：RAB3 GTP 酶激活蛋白催化亚基 1

种属: Homo sapiens

同用名: P130; MARTS2; WARBM1; RAB3GAP; RAB3GAP130

基因 ID: 22930 | 基因类型: protein coding

关于 RAB3GAP1

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,052,292-135,176,396 (from NCBI)

This gene has 25 transcripts (splice variants), 207 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 16.8), thyroid (RPKM 15.9) and 25 other tissues.

功能概要

该基因编码 Rab GTPase 激活蛋白的催化亚基。编码的蛋白质与非催化亚基形成异二聚体，以特异性调节小 G 蛋白 Rab3 亚家族成员的活性。该蛋白质介导 GTP 结合 Rab3 水解为 GDP 结合形式。该基因的突变与 Warburg 微综合征有关。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 2 月]

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

RAB3GAP1 基因产物(2)

mRNA	Protein	Name
NM_001172435.2	NP_001165906.1	rab3 GTPase-activating protein catalytic subunit isoform 1
NM_012233.3	NP_036365.1	rab3 GTPase-activating protein catalytic subunit 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 GTPase activator activity	IDA IDA: 通过直接分析推断	9030515	GOA
enables GTPase activator activity	IMP IMP: 通过突变表型推断	24891604	GOA
contributes to guanyl-nucleotide exchange factor activity	IMP IMP: 通过突变表型推断	24891604	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22337587	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	10859313	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in brain development	IMP IMP: 通过突变表型推断	20512159	GOA
involved in camera-type eye development	IMP IMP: 通过突变表型推断	20512159	GOA
involved in establishment of protein localization to endoplasmic reticulum membrane	IMP IMP: 通过突变表型推断	24891604	GOA
involved in face morphogenesis	IMP IMP: 通过突变表型推断	20512159	GOA
involved in hypothalamus development	IMP IMP: 通过突变表型推断	20512159	GOA
acts upstream of or within lipid droplet organization	IMP IMP: 通过突变表型推断	24239381	GOA
involved in positive regulation of GTPase activity	IMP IMP: 通过突变表型推断	24891604	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: 通过突变表型推断	25495476	GOA
involved in positive regulation of endoplasmic reticulum tubular network organization	IMP IMP: 通过突变表型推断	24891604	GOA
involved in positive regulation of protein lipidation	IMP IMP: 通过突变表型推断	25495476	GOA
involved in regulation of GTPase activity	IDA IDA: 通过直接分析推断	10859313	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	25495476	GOA
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	25495476	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	24891604	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

RAB3GAP1 蛋白结构

Rab3-GTPase_cat

0
200
400
600
800
981 a.a.

蛋白主名

其他名称

rab3 GTPase-activating protein catalytic subunit

RAB3 GTPase activating protein subunit 1 (catalytic)

关联疾病

疾病名称

别名

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

Martsolf Syndrome 2

MARTS2

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Martsolf Syndrome 1

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

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Hypertrichosis

Movement Disease

Movement Disorders

Movement Disorder

Spasticity

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

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

Rab18 Deficiency

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Irregular Astigmatism

Megaesophagus

Esophageal Achalasia

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Corneal Ectasia

Microcephaly

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

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

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Lens Disease

Lens Diseases

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

Polymicrogyria

Pmg

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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-RS11559	RAB3GAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	RAB3GAP1	VGNC	VGNC:45286
Macaca mulatta	RAB3GAP1	VGNC	VGNC:76498
Bos taurus	RAB3GAP1	VGNC	VGNC:33653
Felis catus	RAB3GAP1	VGNC	VGNC:107611
Rattus norvegicus	RAB3GAP1	RGD	RGD:1306487
Mus musculus	RAB3GAP1	MGD	MGI:2445001

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

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）

RAB3GAP1 - RAB3 GTPase activating protein catalytic subunit 1 Gene

关于 RAB3GAP1

功能概要

RAB3GAP1 基因产物(2)

RAB3GAP1 蛋白结构

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

RAB3GAP1 - RAB3 GTPase activating protein catalytic subunit 1 Gene

关于 RAB3GAP1

功能概要

RAB3GAP1 基因产物(2)

RAB3GAP1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z