2. Gene
  3. VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene

VPS33A - VPS33A core subunit of CORVET and HOPS complexes Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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

Sec1: Sec1 family (34 - 591)

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

相关产品

Pre-clinical Phase
生物活性分子 (1)
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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