TBC1D20 - TBC1 domain family member 20 Gene

中文名称：TBC1 域家族成员 20

种属: Homo sapiens

同用名: WARBM4; C20orf140

基因 ID: 128637 | 基因类型: protein coding

关于 TBC1D20

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:435,480-462,533 (from NCBI)

This gene has 31 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 14.1), thyroid (RPKM 13.3) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 Rab 样小 GTP 酶的 GTP 酶激活蛋白家族。编码的蛋白质及其同源 GTP 酶 Rab1 结合丙型肝炎病毒 (HCV) 的非结构蛋白 5A (NS5A) 以介导病毒复制。这种蛋白质的耗尽会抑制病毒的复制和 HCV 感染。该基因的突变与 Warburg 微综合征 4 相关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 3 月]

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV Infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

TBC1D20 基因产物(1)

mRNA	Protein	Name
NM_144628.4	NP_653229.1	TBC1 domain family member 20

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	17684057	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17684057	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	17684057	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in COPII-coated vesicle cargo loading	IMP IMP: 通过突变表型推断	17684057	GOA
involved in Golgi organization	IMP IMP: 通过突变表型推断	17684057	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: 通过突变表型推断	21680502	GOA
involved in positive regulation by host of viral genome replication	IMP IMP: 通过突变表型推断	17686842	GOA
involved in positive regulation by virus of viral protein levels in host cell	IMP IMP: 通过突变表型推断	17686842	GOA
involved in positive regulation of ER to Golgi vesicle-mediated transport	IMP IMP: 通过突变表型推断	17684057	GOA
involved in positive regulation of GTPase activity	IMP IMP: 通过突变表型推断	17684057	GOA
NOT involved in regulation of cilium assembly	IMP IMP: 通过突变表型推断	17646400	GOA
involved in virion assembly	IMP IMP: 通过突变表型推断	21680502	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi membrane	IDA IDA: 通过直接分析推断	17684057	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	22491470	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	17684057	GOA
located in nuclear membrane	IDA IDA: 通过直接分析推断	17684057	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

TBC1D20 蛋白结构

RabGAP-TBC

0
100
200
300
403 a.a.

蛋白主名

其他名称

TBC1 domain family member 20

TBC1D20 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	TBC1D20	Q96BZ9	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
种属内	TBC1D20	Q96BZ9	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
种属内	TBC1D20	Q96BZ9	APOC4	Homo sapiens	P55056	Y2H Prey Pooling	32296183
种属内	TBC1D20	Q96BZ9	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
种属内	TBC1D20	Q96BZ9	EBP	Homo sapiens	Q15125	Y2H Array	32296183
种属内	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
种属内	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
种属内	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
种属间	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Y2H	17686842
种属间	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	22491470
种属间	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	IF	22491470
种属间	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	17686842
种属间	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Crosslink	17686842

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 4

WARBM4

Micro Syndrome 4

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

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To	Hepatitis C Virus Infection, Response To Therapy Of
Hcv	Hcv, Susceptibility To
Hepatitis C Virus, Resistance To	Hepatitis C Virus, Response To Therapy Of
Resistance To Hepatitis C Virus

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Martsolf Syndrome 1

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

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

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

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

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Microcephaly

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

Lens Disease

Lens Diseases

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS14235	TBC1D20 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	TBC1D20	RGD	RGD:1303293
Mus musculus	TBC1D20	MGD	MGI:1914481
Felis catus	TBC1D20	VGNC	VGNC:65979
Canis familiaris	TBC1D20	VGNC	VGNC:47139
Macaca mulatta	TBC1D20	VGNC	VGNC:78132
Bos taurus	TBC1D20	VGNC	VGNC:35634

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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）

TBC1D20 - TBC1 domain family member 20 Gene

关于 TBC1D20

功能概要

TBC1D20 基因产物(1)

TBC1D20 蛋白结构

TBC1D20 蛋白互作信息

关联疾病

直系同源

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TBC1D20 - TBC1 domain family member 20 Gene

关于 TBC1D20

功能概要

TBC1D20 基因产物(1)

TBC1D20 蛋白结构

TBC1D20 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

Y

Z