VPS11 - VPS11 core subunit of CORVET and HOPS complexes Gene

中文名称：CORVET 和 HOPS 复合体的 VPS11 核心亚基

种属: Homo sapiens

同用名: END1; PEP5; HLD12; RNF108; hVPS11; HLD12; DYT32

基因 ID: 55823 | 基因类型: protein coding

关于 VPS11

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,067,818-119,081,972 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 16.0), bone marrow (RPKM 14.4) and 25 other tissues.

功能概要

囊泡介导的蛋白质分选在将细胞内分子分离到不同的细胞器中起着重要作用。酵母的遗传研究已经确定了 40 多个液泡蛋白分选 (VPS) 基因参与囊泡向液泡的运输。该基因编码酵母 C 类 Vps11 蛋白的人类同系物。哺乳动物 C 类 Vps 蛋白主要与晚期内体/溶酶体相关，并且像它们的酵母对应物一样，可能介导内体/溶酶体途径中的囊泡运输步骤。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

VPS11 基因产物(6)

mRNA	Protein	Name
NM_001290185.2	NP_001277114.1	vacuolar protein sorting-associated protein 11 homolog isoform 2
NM_001378218.1	NP_001365147.1	vacuolar protein sorting-associated protein 11 homolog isoform 3
NM_001378219.1	NP_001365148.1	vacuolar protein sorting-associated protein 11 homolog isoform 4
NM_001378220.1	NP_001365149.1	vacuolar protein sorting-associated protein 11 homolog isoform 5
NM_001378221.1	NP_001365150.1	vacuolar protein sorting-associated protein 11 homolog isoform 6
NM_021729.6	NP_068375.3	vacuolar protein sorting-associated protein 11 homolog 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 protein binding	IPI IPI: 通过物理相互作用推断	11382755	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	21148287	GOA
enables syntaxin binding	IDA IDA: 通过直接分析推断	11382755	GOA
enables ubiquitin protein ligase activity	IMP IMP: 通过突变表型推断	31015428	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endosomal vesicle fusion	IMP IMP: 通过突变表型推断	21148287	GOA
involved in endosome to lysosome transport	IMP IMP: 通过突变表型推断	25783203	GOA
involved in negative regulation of intracellular estrogen receptor signaling pathway	IGI IGI: 通过遗传相互作用推断	31015428	GOA
involved in positive regulation of early endosome to late endosome transport	IMP IMP: 通过突变表型推断	21148287	GOA
involved in positive regulation of protein catabolic process	IMP IMP: 通过突变表型推断	21148287	GOA
involved in protein ubiquitination	IMP IMP: 通过突变表型推断	31015428	GOA
involved in regulation of organelle assembly	IMP IMP: 通过突变表型推断	21148287	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of HOPS complex	IDA IDA: 通过直接分析推断	19109425	GOA
colocalizes with early endosome	IDA IDA: 通过直接分析推断	21148287	GOA
located in endocytic vesicle	IDA IDA: 通过直接分析推断	20682791	GOA
located in endosome	IDA IDA: 通过直接分析推断	20682791	GOA
colocalizes with late endosome	IDA IDA: 通过直接分析推断	21148287	GOA
located in late endosome	IDA IDA: 通过直接分析推断	11382755	GOA
colocalizes with lysosome	IDA IDA: 通过直接分析推断	21148287	GOA
located in lysosome	IDA IDA: 通过直接分析推断	11382755	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

VPS11 蛋白结构

Clathrin

zf-C3HC4_2

VPS11_C

0
200
400
600
800
940 a.a.

蛋白主名

其他名称

vacuolar protein sorting-associated protein 11 homolog

RING finger protein 108

VPS11 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	VPS11	Q9H270	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
种属内	VPS11	Q9H270	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
种属内	VPS11	Q9H270	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
种属内	VPS11	Q9H270	VPS39	Homo sapiens	Q96JC1	Anti Tag CoIP	33422265
种属内	VPS11	Q9H270	VPS39	Homo sapiens	Q96JC1	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	VPS39	Homo sapiens	Q96JC1	Y2H	23901104
种属内	VPS11	Q9H270	VPS18	Homo sapiens	Q9P253	Anti Bait CoIP	11382755
种属内	VPS11	Q9H270	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	VPS18	Homo sapiens	Q9P253	Y2H	23901104
种属内	VPS11	Q9H270	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	28514442
种属内	VPS11	Q9H270	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	26496610
种属内	VPS11	Q9H270	VPS41	Homo sapiens	P49754	Anti Tag CoIP	33422265
种属内	VPS11	Q9H270	VPS41	Homo sapiens	P49754	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	BMI1	Homo sapiens	P35226	Anti Tag CoIP	22493164
种属内	VPS11	Q9H270	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	26496610
种属内	VPS11	Q9H270	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	VPS16	Homo sapiens	Q9H269	Anti Bait CoIP	11382755
种属内	VPS11	Q9H270	VPS16	Homo sapiens	Q9H269	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	VPS16	Homo sapiens	Q9H269	Anti Tag CoIP	26496610
种属内	VPS11	Q9H270	TGFBRAP1	Homo sapiens	Q8WUH2	Anti Tag CoIP	33961781
种属内	VPS11	Q9H270	TGFBRAP1	Homo sapiens	Q8WUH2	Anti Tag CoIP	28514442
种属内	VPS11	Q9H270	TGFBRAP1	Homo sapiens	Q8WUH2	Anti Tag CoIP	26496610
种属内	VPS11	Q9H270	STX7	Homo sapiens	O15400	Anti Tag CoIP	11382755
种属内	VPS11	Q9H270	STX7	Homo sapiens	O15400	Anti Bait CoIP	11382755
种属内	VPS11	Q9H270	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
种属内	VPS11	Q9H270	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
种属内	VPS11	Q9H270	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
种属内	VPS11	Q9H270	HRAS	Homo sapiens	P01112	Validated Y2H	32814053
种属内	VPS11	Q9H270	HRAS	Homo sapiens	P01112	Y2H Array	32814053
种属内	VPS11	Q9H270	HRAS	Homo sapiens	P01112	Y2H Pooling	32814053
种属内	VPS11	Q9H270	GSN	Homo sapiens	P06396	Y2H Array	32814053
种属内	VPS11	Q9H270	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
种属内	VPS11	Q9H270	GSN	Homo sapiens	P06396	Validated Y2H	32814053
种属内	VPS11	Q9H270	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
种属内	VPS11	Q9H270	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
种属内	VPS11	Q9H270	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
种属内	VPS11	Q9H270	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
种属内	VPS11	Q9H270	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
种属内	VPS11	Q9H270	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
种属间	VPS11	Q9H270	Vps33a	Rattus norvegicus	Q63615	Anti Bait CoIP	11382755
种属间	VPS11	Q9H270	Vps33a	Rattus norvegicus	Q63615	Anti Tag CoIP	11382755

种属间: 跨种属相互作用 种属内: 同种属相互作用

VPS11 抗体

目录号	产品名	应用	反应物种
HY-P82692	VPS11 Antibody (YA2437)	WB, IHC-P, FC	Human, Mouse

关联疾病

疾病名称

别名

Leukodystrophy, Hypomyelinating, 12

Hypomyelinating Leukodystrophy 12	HLD12
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Dystonia 32

DYT32

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Chronic Apical Periodontitis

Apical Periodontitis Nos	Apex Periodontitis
Periapical Infection Nos

Leukodystrophy

Leukodystrophies

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

Visual Pathway Disease

Disorder Of Visual Pathways

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Microcephaly

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

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

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-RS15671	VPS11 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	VPS11	RGD	RGD:1308038
Mus musculus	VPS11	MGD	MGI:1918982
Macaca mulatta	VPS11	VGNC	VGNC:78965
Bos taurus	VPS11	VGNC	VGNC:36809
Canis familiaris	VPS11	VGNC	VGNC:48273
Felis catus	VPS11	VGNC	VGNC:66953

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