1. Gene
  2. VIPAS39 - VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Gene

VIPAS39 - VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Gene

中文名称:VPS33B 相互作用蛋白,顶端-基底侧极性调节因子,spe-39 同系物

种属: Homo sapiens

同用名: SPE39; VIPAR; SPE-39; VPS16B; hSPE-39; C14orf133

基因 ID: 63894 | 基因类型: protein coding

关于 VIPAS39

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,426,675-77,457,601 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 8.8), ovary (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码一种参与溶酶体蛋白分类的蛋白质。该基因的突变与 ARCS2 (关节弯曲、肾功能不全和胆汁淤积 2) 有关。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 7 月]

This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

VIPAS39 基因产物(19)

mRNA Protein Name
NM_001193314.2 NP_001180243.1 spermatogenesis-defective protein 39 homolog isoform 1
NM_001193315.2 NP_001180244.1 spermatogenesis-defective protein 39 homolog isoform 1
NM_001193316.2 NP_001180245.1 spermatogenesis-defective protein 39 homolog isoform 2
NM_001193317.2 NP_001180246.1 spermatogenesis-defective protein 39 homolog isoform 1
NM_001400324.1 NP_001387253.1 spermatogenesis-defective protein 39 homolog isoform 2
NM_001400325.1 NP_001387254.1 spermatogenesis-defective protein 39 homolog isoform 2
NM_001400326.1 NP_001387255.1 spermatogenesis-defective protein 39 homolog isoform 1
NM_001400327.1 NP_001387256.1 spermatogenesis-defective protein 39 homolog isoform 4
NM_001400330.1 NP_001387259.1 spermatogenesis-defective protein 39 homolog isoform 5
NM_001400331.1 NP_001387260.1 spermatogenesis-defective protein 39 homolog isoform 5
NM_001400332.1 NP_001387261.1 spermatogenesis-defective protein 39 homolog isoform 5
NM_001400333.1 NP_001387262.1 spermatogenesis-defective protein 39 homolog isoform 6
NM_001400334.1 NP_001387263.1 spermatogenesis-defective protein 39 homolog isoform 6
NM_001400335.1 NP_001387264.1 spermatogenesis-defective protein 39 homolog isoform 7
NM_001400336.1 NP_001387265.1 spermatogenesis-defective protein 39 homolog isoform 8
NM_001400337.1 NP_001387266.1 spermatogenesis-defective protein 39 homolog isoform 9
NM_001400338.1 NP_001387267.1 spermatogenesis-defective protein 39 homolog isoform 10
NM_001400339.1 NP_001387268.1 spermatogenesis-defective protein 39 homolog isoform 11
NM_022067.4 NP_071350.2 spermatogenesis-defective protein 39 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
16189514 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
19109425 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
NOT involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
25783203 GOA
involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
19109425 GOA
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
19109425 GOA
acts upstream of or within peptidyl-lysine hydroxylation IMP
IMP: 通过突变表型推断
27435297 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
located in cytoplasm IDA
IDA: 通过直接分析推断
20190753 GOA
located in early endosome IDA
IDA: 通过直接分析推断
19109425 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
19109425 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
19109425 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

VIPAS39 蛋白结构

Golgin_A5

Golgin_A5: Golgin subfamily A member 5 (26 - 471)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 493 a.a.
蛋白主名 其他名称

spermatogenesis-defective protein 39 homolog

VPS33B-interacting protein involved in polarity and apical protein restriction

VIPAS39 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 VIPAS39 Q9H9C1 VPS41 Homo sapiens P49754
Anti Bait CoIP
19109425
Intra VIPAS39 Q9H9C1 VPS41 Homo sapiens P49754
Anti Tag CoIP
19109425
Cross VIPAS39 Q9H9C1 Vps18 Mus musculus Q8R307
Anti Tag CoIP
19109425
Cross VIPAS39 Q9H9C1 Vps18 Mus musculus Q8R307
Anti Bait CoIP
19109425
Cross VIPAS39 Q9H9C1 Vps18 Mus musculus Q8R307
Cosedimentation
19109425
Cross VIPAS39 Q9H9C1 Vps11 Mus musculus Q91W86
Anti Tag CoIP
19109425
Cross VIPAS39 Q9H9C1 Vps11 Mus musculus Q91W86
Anti Bait CoIP
19109425
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Anti Bait CoIP
22677173
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Anti Bait CoIP
19109425
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Anti Tag CoIP
20190753
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Anti Tag CoIP
19109425
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Confocal
20190753
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
IF
23918659
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Y2H Prey Pooling
32296183
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Y2H Array
32296183
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Y2H
23901104
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Anti Tag CoIP
22677173
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
IF
22677173
Intra VIPAS39 Q9H9C1 VPS33B Homo sapiens Q9H267
Y2H
23918659
Cross VIPAS39 Q9H9C1 Vps16 Mus musculus Q920Q4
Cosedimentation
19109425
Cross VIPAS39 Q9H9C1 Vps16 Mus musculus Q920Q4
Anti Bait CoIP
19109425
Cross VIPAS39 Q9H9C1 Vps16 Mus musculus Q920Q4
Anti Tag CoIP
19109425
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 2

ARCS2

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 2

Arthrogryposis Renal Dysfunction And Cholestasis 2

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

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

Myasthenic Syndrome, Congenital, 4b, Fast-Channel

Congenital Myasthenic Syndrome 4b

CMS4B

Congenital Myasthenic Syndrome 4b Fast-Channel

Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

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

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

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

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c

CMS4C

Cms Id

Cms1d

Congenital Myasthenic Syndrome Type Id

Fim1

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type Id

Cms1d, Formerly

Cms Id, Formerly

Myasthenia, Familial Infantile, 1, Formerly

Fim1, Formerly

Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency

Familial Infantile Myasthenia 1

Cms1e

Cms-Achrd

Cms Ie

Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Type 1d

Congenital Myasthenic Syndrome Type 1e

Congenital Myasthenic Syndrome Type Ie

Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency

Myasthenia, Familial Infantile, 1

Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Ie

Obstructive Jaundice

Jaundice, Obstructive

Cholestatic Jaundice

Cholestatic Jaundice Syndrome

Obstructive Hyperbilirubinemia

Jaundice Obstructive

Jaundice Cholestatic

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]

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris VIPAS39 VGNC VGNC:48264
Mus musculus VIPAS39 MGD MGI:2144805
Macaca mulatta VIPAS39 VGNC VGNC:79246
Bos taurus VIPAS39 VGNC VGNC:36798
Felis catus VIPAS39 VGNC VGNC:66944
Rattus norvegicus VIPAS39 RGD RGD:1589291