VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene

中文名称：CORVET 和 HOPS 复合体的 VPS33A 核心亚基

种属: Homo sapiens

同用名: MPSPS

基因 ID: 65082 | 基因类型: protein coding

关于 VPS33A

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,229,564-122,266,494 (from NCBI)

This gene has 9 transcripts (splice variants), 213 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码同型融合和蛋白质分选 (HOPS) 复合物的束缚蛋白和核心亚基。啤酒花复合体和称为 C 类核心液泡/内体束缚 (CORVET) 复合体的第二内体束缚复合体在内吞作用中发挥多种功能，包括膜束缚、RabGTPase 相互作用、突触可溶性 N-乙基马来酰亚胺敏感因子附着受体的激活和校对 (SNARE) 组装以驱动膜融合和内体到细胞骨架的附着。 HOPS 复合物控制内体成熟以及内体到溶酶体的交通。这种复合物对于液泡融合是必不可少的，并且是从高尔基体到液泡的衔接蛋白复合物 3 依赖性转运所必需的。编码的蛋白质属于 SNARE 介导的膜融合调节因子的 Sec1/Munc18 (SM) 家族。该基因中自然发生的突变与一种新型粘多糖贮积症样疾病有关。[RefSeq 提供，2017 年 4 月]

This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]

VPS33A 基因产物(5)

mRNA	Protein	Name
NM_001351018.2	NP_001337947.1	vacuolar protein sorting-associated protein 33A isoform 2
NM_001351019.2	NP_001337948.1	vacuolar protein sorting-associated protein 33A isoform 3
NM_001351020.2	NP_001337949.1	vacuolar protein sorting-associated protein 33A isoform 4
NM_001351021.2	NP_001337950.1	vacuolar protein sorting-associated protein 33A isoform 5
NM_022916.6	NP_075067.2	vacuolar protein sorting-associated protein 33A isoform 1

VPS33A 蛋白结构

Sec1

0
100
200
300
400
500
596 a.a.

蛋白主名

其他名称

vacuolar protein sorting-associated protein 33A

VPS33A, CORVET/HOPS core subunit

VPS33A 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	VPS33A	Q96AX1	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	24554770
种属内	VPS33A	Q96AX1	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	25783203
种属内	VPS33A	Q96AX1	ROPN1	Homo sapiens	Q9HAT0	Validated Y2H	32296183
种属内	VPS33A	Q96AX1	ROPN1	Homo sapiens	Q9HAT0	Y2H Prey Pooling	32296183
种属内	VPS33A	Q96AX1	ROPN1	Homo sapiens	Q9HAT0	Y2H Array	32296183
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	GMS	23901104
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	Pull Down	23901104
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	Anti Tag CoIP	20190753
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	Y2H	23901104
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	X-Ray Diffraction	23901104
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	Anti Tag CoIP	29778605
种属内	VPS33A	Q96AX1	VPS16	Homo sapiens	Q9H269	Anti Tag CoIP	35271311
种属内	VPS33A	Q96AX1	STX17	Homo sapiens	P56962	Anti Tag CoIP	24554770
种属内	VPS33A	Q96AX1	STX17	Homo sapiens	P56962	Confocal	24554770
种属内	VPS33A	Q96AX1	UVRAG	Homo sapiens	Q9P2Y5	Anti Tag CoIP	24554770
种属内	VPS33A	Q96AX1	VPS11	Homo sapiens	Q9H270	GMS	29778605
种属内	VPS33A	Q96AX1	VPS11	Homo sapiens	Q9H270	Anti Tag CoIP	35271311

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

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
MPSPS	Mucopolysaccharidoses
Mps	Mucopolysaccharidosis-Like Plus Disease
Disorders Of Glycosaminoglycan Metabolism

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Dysostosis

Dysostoses

Mucopolysaccharidosis, Type Iiic

Mucopolysaccharidosis Type Iiic	MPS3C
Mps Iiic	Sanfilippo Syndrome C
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency	Hgsnat Deficiency
Mpsiiic	Mucopolysaccharidosis Type 3c
Sanfilippo Syndrome Type C	Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
Mucopoly-Saccharidosis Type 3c	Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency	Mps 3c
Mps Iii-C	Mucopolysaccharidosis 3c
Mucopolysaccharidosis Iii	Mps Iii C

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome	ARCS1
Arthrogryposis Renal Dysfunction Cholestasis Syndrome	Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Arcs	Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome
Arthrogryposis, Renal Dysfunction, And Cholestasis	Arthrogryposis-Renal Dysfunction-Cholestasis
Arthrogryposis - Renal Dysfunction - Cholestasis	Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis
Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1	Arthrogryposis Renal Dysfunction And Cholestasis 1
Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome	Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1
Kidney Failure	Renal Insufficiency

Hurler Syndrome

Mucopolysaccharidosis Ih	Mucopolysaccharidosis Type Ih
Mps1-H	MPS1H
Hurler Disease	Mpsih
Mucopolysaccharidosis Type 1h	Alpha-L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome	L-Iduronidase Deficiency, Hurler Type
Mucopolysaccharidosis Type I Severe Form	Mucopolysaccharidosis 1h
Hurler'S Syndrome	Mps Ih
Mps-Ih	Pfaundler-Hurler Syndrome
Mucopolysaccharidosis I

Mucopolysaccharidosis, Type Ii

Hunter Syndrome	Iduronate 2-Sulfatase Deficiency
Mucopolysaccharidosis Ii	Mps Ii
Mucopolysaccharidosis Type Ii	MPS2
Sulfoiduronate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Ii
Ids Deficiency	Sids Deficiency
I2s Deficiency	Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 2, Severe Form	Deficiency Of Iduronate-2-Sulphatase
Hunter'S Syndrome	Mps Ii - Hunter Syndrome
Iduronate-2-Sulfatase Deficiency	Attenuated Mps
Mps 2	Severe Mps Ii
Mpsii	Mucopolysaccharidosis Type 2, Attenuated Form
Hunter Syndrome Type B	Iduronate 2-Sulfatase Deficiency Type B
Mps2b	Mpsiib
Mucopolysaccharidosis Type 2b	Mucopolysaccharidosis Type Ii, Attenuated Form
Mucopolysaccharidosis Type Iib	Hunter Syndrome Type A
Iduronate 2-Sulfatase Deficiency Type A	Mps2a
Mpsiia	Mucopolysaccharidosis Type 2a
Mucopolysaccharidosis Type Ii, Severe Form	Mucopolysaccharidosis Type Iia
Mucopolysaccharidosis 2	Hunters Syndrome
Iduronate 2-Sulphatase Deficiency	Iduronate Sulfatase Deficiency
Iduronate Sulphatase Deficiency	Sulfo-Iduronate Sulfatase Deficiency
Sulfoiduronidate Sulfatase Deficiency	Sulpho-Iduronate Sulphatase Deficiency
Sulphoiduronidate Sulphatase Deficiency	Mps2 - [Mucopolysaccharidosis 2]

Hermansky-Pudlak Syndrome

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

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

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-RS15683	VPS33A 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	VPS33A	VGNC	VGNC:110105
Rattus norvegicus	VPS33A	RGD	RGD:620643
Mus musculus	VPS33A	MGD	MGI:1924823
Felis catus	VPS33A	VGNC	VGNC:110161
Bos taurus	VPS33A	VGNC	VGNC:110073

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene

关于 VPS33A

功能概要

VPS33A 基因产物(5)

VPS33A 蛋白结构

VPS33A 蛋白互作信息

关联疾病

直系同源

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VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene

关于 VPS33A

功能概要

VPS33A 基因产物(5)

VPS33A 蛋白结构

VPS33A 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

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