VPS33B - VPS33B late endosome and lysosome associated Gene

中文名称：VPS33B 晚期内体和溶酶体相关

种属: Homo sapiens

同用名: KDIDAR; PFIC12

基因 ID: 26276 | 基因类型: protein coding

关于 VPS33B

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:90,998,416-91,022,621 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 5.8), testis (RPKM 4.9) 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。该基因是 Sec-1 结构域家族的成员，编码大鼠 Vps33b 的人类直系同源物，它与酵母 C 类 Vps33 蛋白同源。哺乳动物 C 类液泡蛋白分选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。该基因的突变与关节挛缩症-肾功能不全-胆汁淤积综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 1 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 is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

VPS33B 基因产物(3)

mRNA	Protein	Name
NM_001289148.1	NP_001276077.1	vacuolar protein sorting-associated protein 33B isoform 2
NM_001289149.1	NP_001276078.1	vacuolar protein sorting-associated protein 33B isoform 3
NM_018668.5	NP_061138.3	vacuolar protein sorting-associated protein 33B 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	16189514	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	21411634	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
NOT involved in autophagosome maturation	IMP IMP: 通过突变表型推断	25783203	GOA
acts upstream of or within collagen metabolic process	IMP IMP: 通过突变表型推断	27435297	GOA
involved in endosome organization	IMP IMP: 通过突变表型推断	23918659	GOA
NOT involved in endosome to lysosome transport	IMP IMP: 通过突变表型推断	25783203	GOA
involved in lysosome localization	IDA IDA: 通过直接分析推断	15790593	GOA
involved in melanosome localization	IDA IDA: 通过直接分析推断	15790593	GOA
involved in membrane fusion	IMP IMP: 通过突变表型推断	15052268	GOA
acts upstream of or within peptidyl-lysine hydroxylation	IMP IMP: 通过突变表型推断	27435297	GOA
involved in platelet alpha granule organization	IMP IMP: 通过突变表型推断	16123220	GOA
involved in protein transport	IMP IMP: 通过突变表型推断	15052268	GOA
involved in skin morphogenesis	IMP IMP: 通过突变表型推断	28017832	GOA
acts upstream of or within vesicle-mediated transport	IDA IDA: 通过直接分析推断	15790593	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	27435297	GOA
NOT part of HOPS complex	IDA IDA: 通过直接分析推断	25783203	GOA
part of HOPS complex	IDA IDA: 通过直接分析推断	19109425	GOA
located in clathrin-coated vesicle	IDA IDA: 通过直接分析推断	21411634	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	15052268	GOA
located in early endosome membrane	IDA IDA: 通过直接分析推断	21411634	GOA
located in endosome	IDA IDA: 通过直接分析推断	23918659	GOA
located in late endosome	IDA IDA: 通过直接分析推断	15052268	GOA
located in lysosome	IDA IDA: 通过直接分析推断	15052268	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	19109425	GOA
located in platelet alpha granule	IDA IDA: 通过直接分析推断	16123220	GOA
part of vesicle tethering complex	IPI IPI: 通过物理相互作用推断	23918659	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

VPS33B 蛋白结构

Sec1

0
100
200
300
400
500
617 a.a.

蛋白主名

其他名称

vacuolar protein sorting-associated protein 33B

vacuolar protein sorting 33 homolog B

VPS33B 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	VPS33B	Q9H267	C14orf133	Homo sapiens	Q6IA61	Y2H Prey Pooling	25416956
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Y2H Prey Pooling	26871637
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Y2H Prey Pooling	32296183
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Validated Y2H	26871637
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Y2H Array	25416956
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Y2H Array	26871637
Intra	VPS33B	Q9H267	TNIP1	Homo sapiens	Q15025	Y2H Array	32296183
Intra	VPS33B	Q9H267	VIPAS39	Homo sapiens	Q9H9C1	Anti Bait CoIP	19109425
Intra	VPS33B	Q9H267	VIPAS39	Homo sapiens	Q9H9C1	Y2H Pooling	16189514

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

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

Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive

KDIDAR

Cholestasis, Progressive Familial Intrahepatic, 12

PFIC12

Cholestasis, Isolated Low-Ggt

Cholestasis

Obstruction Of Bile Duct	Bile Duct Obstruction
Bile Occlusion	Extrahepatic Biliary Obstruction
Extrahepatic Bile Duct Obstruction	Bile Stasis
Biliary Stasis	Obstructive Hyperbilirubinemia
Obstructed Jaundice	Bile Duct Obstructed
Bile Ductal Obstruction	Biliary Duct Obstruction
Obstructed Bile Ductal	Obstructed Biliary Duct
Obstructed Biliary Ductal	Jaundice Regurgitation
Obstructive Jaundice	Cholestatic Jaundice
Cholestatic Jaundice Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis 2

ARCS2	Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 2
Arthrogryposis Renal Dysfunction And Cholestasis 2

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome	CEDNIK
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome	Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma	Neurocutaneous Syndromes

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency	GPS
Bdplt4	Bleeding Disorder, Platelet-Type, 4
Grey Platelet Syndrome	Platelet-Type Bleeding Disorder 4
Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins	Deficient Alpha Granule Syndrome
Platelet Alpha Granule Deficiency	Platelet Granule Defect
Alpha Storage Pool Deficiency	Bleeding Disorder Platelet-Type 4

Pseudo-Von Willebrand Disease

Bdplt3	Von Willebrand Disease, Platelet-Type
VWDP	Platelet-Type Bleeding Disorder 3
Platelet Type-Von Willebrand Disease	Pt-Vwd
Von Willebrand Disease Platelet-Type	Von Willebrand Disease, Platelet Type
Pseudo Von Willebrand Disease	Bleeding Disorder, Platelet-Type, 3
Pseudo-Von Willebrand Disease Type 2b	Bleeding Disorder Platelet-Type 3
Pseudo-Vwd

Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis	Punctate Keratosis Palmoplantaris
Punctate Ppk

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

Obstructive Jaundice

Jaundice, Obstructive	Cholestatic Jaundice
Cholestatic Jaundice Syndrome	Obstructive Hyperbilirubinemia
Jaundice Obstructive	Jaundice Cholestatic

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

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-RS15684	VPS33B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	VPS33B	VGNC	VGNC:36817
Canis familiaris	VPS33B	VGNC	VGNC:48284
Rattus norvegicus	VPS33B	RGD	RGD:620644
Felis catus	VPS33B	VGNC	VGNC:80808
Mus musculus	VPS33B	MGD	MGI:2446237

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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）

VPS33B - VPS33B late endosome and lysosome associated Gene

关于 VPS33B

功能概要

VPS33B 基因产物(3)

VPS33B 蛋白结构

VPS33B 蛋白互作信息

关联疾病

直系同源

热门区域

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VPS33B - VPS33B late endosome and lysosome associated Gene

关于 VPS33B

功能概要

VPS33B 基因产物(3)

VPS33B 蛋白结构

VPS33B 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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C

F

G

H

J

L

N

Q

S

T

X

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