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

Also Known as SPE39; VIPAR; SPE-39; VPS16B; hSPE-39; C14orf133

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63894

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	19109425	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	25783203	GOA
acts upstream of or within collagen metabolic process	IMP IMP: Inferred from mutant phenotype	27435297	GOA
NOT involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	25783203	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	19109425	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	19109425	GOA
acts upstream of or within peptidyl-lysine hydroxylation	IMP IMP: Inferred from mutant phenotype	27435297	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	27435297	GOA
NOT part of HOPS complex	IDA IDA: Inferred from direct assay	25783203	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	20190753	GOA
located in early endosome	IDA IDA: Inferred from direct assay	19109425	GOA
located in endosome	IDA IDA: Inferred from direct assay	23918659	GOA
located in late endosome	IDA IDA: Inferred from direct assay	19109425	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	19109425	GOA
part of vesicle tethering complex	IPI IPI: Inferred from physical interaction	23918659	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VIPAS39 Protein Structure

Golgin_A5

0
100
200
300
400
493 a.a.

Protein Preferred Names	Protein Names
spermatogenesis-defective protein 39 homolog	VPS33B-interacting protein involved in polarity and apical protein restriction

VIPAS39 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15654	VIPAS39 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	VIPAS39	NCBI