VPS33B - VPS33B late endosome and lysosome associated Gene

Also Known as KDIDAR; PFIC12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26276

About 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.

Summary

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 Products (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

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	IPI IPI: Inferred from physical interaction	21411634	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
involved in endosome organization	IMP IMP: Inferred from mutant phenotype	23918659	GOA
NOT involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	25783203	GOA
involved in lysosome localization	IDA IDA: Inferred from direct assay	15790593	GOA
involved in melanosome localization	IDA IDA: Inferred from direct assay	15790593	GOA
involved in membrane fusion	IMP IMP: Inferred from mutant phenotype	15052268	GOA
acts upstream of or within peptidyl-lysine hydroxylation	IMP IMP: Inferred from mutant phenotype	27435297	GOA
involved in platelet alpha granule organization	IMP IMP: Inferred from mutant phenotype	16123220	GOA
involved in protein transport	IMP IMP: Inferred from mutant phenotype	15052268	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	28017832	GOA
acts upstream of or within vesicle-mediated transport	IDA IDA: Inferred from direct assay	15790593	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
part of HOPS complex	IDA IDA: Inferred from direct assay	19109425	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	21411634	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15052268	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	21411634	GOA
located in endosome	IDA IDA: Inferred from direct assay	23918659	GOA
located in late endosome	IDA IDA: Inferred from direct assay	15052268	GOA
located in lysosome	IDA IDA: Inferred from direct assay	15052268	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	19109425	GOA
located in platelet alpha granule	IDA IDA: Inferred from direct assay	16123220	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

VPS33B Protein Structure

Sec1

0
100
200
300
400
500
617 a.a.

Protein Preferred Names	Protein Names
vacuolar protein sorting-associated protein 33B	vacuolar protein sorting 33 homolog B

VPS33B Protein-protein interaction Information

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

Cross: Cross-species interaction Intra: Intraspecies interaction

VPS33B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89649	VPS33B Antibody (YA8993)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
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

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-RS15684	VPS33B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	VPS33B	NCBI