TBC1D5 - TBC1 domain family member 5 Gene

中文名称：TBC1 域家族成员 5

种属: Homo sapiens

基因 ID: 9779 | 基因类型: protein coding

关于 TBC1D5

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:17,157,162-17,742,631 (from NCBI)

This gene has 31 transcripts (splice variants), 208 orthologues and 45 paralogues. Ubiquitous expression in thyroid (RPKM 11.6), brain (RPKM 10.8) and 25 other tissues.

功能概要

启用 AP-2 适配器复合物结合活动和逆转录酶复合物结合活动。参与多个过程，包括巨自噬；受体内化的正向调节；和逆行运输，内体到高尔基体。位于高尔基体；自噬体；和内体膜。逆转录酶复合体的一部分。与 AP-2 适配器复合物和 Atg1/ULK1 激酶复合物共定位。 [由基因组资源联盟提供，2022 年 4 月]

Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; autophagosome; and endosome membrane. Part of retromer complex. Colocalizes with AP-2 adaptor complex and Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D5 基因产物(21)

mRNA	Protein	Name
NM_001134381.2	NP_001127853.1	TBC1 domain family member 5 isoform a
NM_001349073.2	NP_001336002.1	TBC1 domain family member 5 isoform a
NM_001349074.2	NP_001336003.1	TBC1 domain family member 5 isoform a
NM_001349075.2	NP_001336004.1	TBC1 domain family member 5 isoform a
NM_001349076.2	NP_001336005.1	TBC1 domain family member 5 isoform b
NM_001349077.2	NP_001336006.1	TBC1 domain family member 5 isoform b
NM_001349078.2	NP_001336007.1	TBC1 domain family member 5 isoform b
NM_001349079.2	NP_001336008.1	TBC1 domain family member 5 isoform b
NM_001349080.2	NP_001336009.1	TBC1 domain family member 5 isoform b
NM_001349081.2	NP_001336010.1	TBC1 domain family member 5 isoform c
NM_001349082.2	NP_001336011.1	TBC1 domain family member 5 isoform d
NM_001349083.2	NP_001336012.1	TBC1 domain family member 5 isoform d
NM_001349084.2	NP_001336013.1	TBC1 domain family member 5 isoform d
NM_001349085.2	NP_001336014.1	TBC1 domain family member 5 isoform d
NM_001349086.2	NP_001336015.1	TBC1 domain family member 5 isoform d
NM_001349087.2	NP_001336016.1	TBC1 domain family member 5 isoform e
NM_001349088.2	NP_001336017.1	TBC1 domain family member 5 isoform e
NM_001349089.2	NP_001336018.1	TBC1 domain family member 5 isoform e
NM_001349090.2	NP_001336019.1	TBC1 domain family member 5 isoform e
NM_001349091.2	NP_001336020.1	TBC1 domain family member 5 isoform e
NM_014744.2	NP_055559.1	TBC1 domain family member 5 isoform b

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 AP-2 adaptor complex binding	IDA IDA: 通过直接分析推断	24603492	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein-containing complex binding	IDA IDA: 通过直接分析推断	19531583	GOA
enables retromer complex binding	IMP IMP: 通过突变表型推断	27385586	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in autophagy	IDA IDA: 通过直接分析推断	22354992	GOA
involved in macroautophagy	IMP IMP: 通过突变表型推断	24603492	GOA
involved in positive regulation of receptor internalization	IMP IMP: 通过突变表型推断	22354992	GOA
NOT involved in regulation of cilium assembly	IMP IMP: 通过突变表型推断	17646400	GOA
involved in response to starvation	IDA IDA: 通过直接分析推断	22354992	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: 通过突变表型推断	22354992	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of AP-2 adaptor complex	IDA IDA: 通过直接分析推断	24603492	GOA
part of Atg1/ULK1 kinase complex	IDA IDA: 通过直接分析推断	24603492	GOA
located in autophagosome	IDA IDA: 通过直接分析推断	22354992	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	20923837	GOA
part of retromer complex	IDA IDA: 通过直接分析推断	20923837	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

TBC1D5 蛋白结构

RabGAP-TBC

0
200
400
600
795 a.a.

蛋白主名

其他名称

TBC1 domain family member 5

TBC1D5 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	TBC1D5	Q92609	VPS35	Homo sapiens	Q96QK1	Anti Tag CoIP	20923837
种属内	TBC1D5	Q92609	VPS35	Homo sapiens	Q96QK1	Anti Tag CoIP	37172566
种属内	TBC1D5	Q92609	CHIA	Homo sapiens	Q9BZP6	Validated Y2H	32296183
种属内	TBC1D5	Q92609	AP2M1	Homo sapiens	Q96CW1	Pull Down	24603492
种属内	TBC1D5	Q92609	VPS29	Homo sapiens	Q9UBQ0	Anti Tag CoIP	20923837
种属内	TBC1D5	Q92609	VPS29	Homo sapiens	Q9UBQ0	Anti Tag CoIP	37172566
种属内	TBC1D5	Q92609	VPS29	Homo sapiens	Q9UBQ0	Anti Tag CoIP	24603492
种属内	TBC1D5	Q92609	GABARAPL2	Homo sapiens	P60520	Y2H Array	31515488
种属内	TBC1D5	Q92609	GABARAPL2	Homo sapiens	P60520	Y2H Pooling	16189514
种属内	TBC1D5	Q92609	GABARAPL1	Homo sapiens	Q9H0R8	Validated Y2H	32296183
种属间	TBC1D5	Q92609	Vps29	Mus musculus	Q9QZ88	Y2H	20923837
种属内	TBC1D5	Q92609	FBXL7	Homo sapiens	Q9UJT9	Validated Y2H	32296183
种属内	TBC1D5	Q92609	ATXN1	Homo sapiens	P54253	Y2H Array	16713569

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

Legionnaire Disease

Legionnaires' Disease	Legionnaires Disease
Legionnaire Disease, Susceptibility To	Legionella
Legionella Pneumonia	Infection By Legionella Pneumophilia
Legionnaire'S Disease	Legionellosis
Legionaire Disease, Susceptibility To	Legionnaires Pneumonia

Legionellosis

Legionella Infection	Pontiac Fever
Legionnaires' Disease	Infection By Legionella Pneumophilia
Legionella Pneumophila Infection

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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-RS14245	TBC1D5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	TBC1D5	MGD	MGI:1919488
Macaca mulatta	TBC1D5	VGNC	VGNC:81594
Felis catus	TBC1D5	VGNC	VGNC:97654
Bos taurus	TBC1D5	VGNC	VGNC:53608
Canis familiaris	TBC1D5	VGNC	VGNC:47150
Rattus norvegicus	TBC1D5	RGD	RGD:1561626

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