V3 here soon-try beta now
Gene Search (GeneCards Home) | GeneCards Guide | User Feedback | Terms of Use | Notice about third-party sites
 

VPS33B Gene

protein-coding   GIFtS: 59

GC15M089342
vacuolar protein sorting 33 homolog B (yeast)
(Previous name: vacuolar protein sorting 33B (yeast homolog) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
FLJ14848 1, 2
hVPS33B 3
Descriptions
vacuolar protein sorting 33 homolog B (yeast) 2
vacuolar protein sorting 33B 2
vacuolar protein sorting 33B (yeast homolog) 1
vacuolar protein sorting 33B (yeast homolog)) 2
External Ids
HGNC: 127121
Entrez Gene: 262762
UniProtKB: Q9H2673
Ensembl: ENSG000001840567
Search outside databases for aliases for VPS33B gene

Previous GC identifers: GC15P087731 GC15M084982 GC15M089129 GC15M089271

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for VPS33B:
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 Vps proteins are predominantly associated with late
endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in
the endosome/lysosome pathway. [provided by RefSeq]

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267
Function: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in
membrane docking/fusion reactions of late endosomes/lysosomes (By similarity)

Gene Wiki entry for VPS33B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the VPS33B gene  

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

VPS33B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M089342:     (about GC identifiers)

Start:
89,342,778 bp from pter
End:
89,366,837 bp from pter
Size:
24,060 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000015.8  NT_010274.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 33B  
Size: 617 amino acids; 70615 Da
Subcellular location: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side.
Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic, peripheral
membrane protein associated with late endosomes/lysosomes
Secondary accessions: Q96K14 Q9NRP6 Q9NSF3

REFSEQ proteins: NP_061138.3  

ENSEMBL proteins: 
ENSP00000327650 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (VPS33B)
Human Recombinant Proteins from Abnova (VPS33B)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005765 lysosomal membrane IEA--
GO:0005768 endosome IEA--
GO:0016020 membrane IEA--
GO:0031902 late endosome membrane IEA--
About this table

Antibodies for VPS33B: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (VPS33B), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (VPS33B)
Novus Biologicals Antibodies for VPS33B

Assays for VPS33B: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro domain/family:
 IPR001619 Sec1-like


   GeneDecks  VPS33B for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9H267

ProtoNet protein and cluster: Q9H267

1 Blocks protein family: IPB001619 Sec1-like protein

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267
Similarity: Belongs to the STXBP/unc-18/SEC1 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (VPS33B)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018668

              Applied Biosystems Silencer® siRNAs for VPS33B

              Sigma-Aldrich siRNA for VPS33B  
                     Sigma-Aldrich shRNA for VPS33B  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for VPS33B
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018668
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018668
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_018668 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_018668

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267
Function: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in
membrane docking/fusion reactions of late endosomes/lysosomes (By similarity)

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



3 Interacting proteins for VPS33B (ENSP000003276503 Q9H2672) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
C14orf133Q9H9C12STRING (score=.88) MINT-67422
ONECUT1ENSP000003026303STRING (score=.921)
HNF1BENSP000002258933STRING (score=.904)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006904 vesicle docking during exocytosis IEA--
GO:0015031 protein transport IEA--
GO:0016192 vesicle-mediated transport IDA15790593
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for VPS33B

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (VPS33B)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018668

              Sigma-Aldrich siRNA for VPS33B  
                     Sigma-Aldrich shRNA for VPS33B  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_018668  

REFSEQ mRNAs for VPS33B gene: 

NM_018668.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_018668  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018668
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018668
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_018668 

Additional cDNA sequence: 

AF201694.1 AF308803.1 AK027754.1 AK074863.1 AK293688.1 AK300608.1 AK308480.1 AK315721.1 
AL357472.1 BC016445.1 CR604260.1 

15 DOTS entries:

DT.441610  DT.100694312  DT.100776662  DT.121031376  DT.101967521  DT.75103845  DT.121031325  DT.92433072 
DT.97842704  DT.100776664  DT.121031276  DT.121031348  DT.100774402  DT.121031283  DT.121031395 

24/146 AceView cDNA sequences (see all 146 ):

BM988158 BM828487 AW139485 BQ898937 AA463624 BQ066026 BE223017 AI589203 
BM014183 CR604260 AL357472 BQ014188 AA452072 AA700425 CF132227 BP357794 
AI271343 BC016445 CA429118 BQ642641 AA626231 BU741299 BM713195 BI554047 

highest scoring ESTs for VPS33B:

AA074575 AF201694 AF308803 AI672363 AK027754 AK074863 AL526736 AL530399 AL552186 AL556901 

Unigene Cluster for VPS33B:

Vacuolar protein sorting 33 homolog B (yeast)
Hs.718508  [show with all ESTs]
Unigene Representative Sequence: NM_018668


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for VPS33B

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:                                -                                                               
SP2:                                                                                                
SP3:                                -     -                                                         
SP4:                                                                                                
SP5:                          -     -     -                                                         

About this scheme

ECgene alternative splicing isoforms for VPS33B

1 Ensembl transcript including schematic representation:
ENST00000333371  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

VPS33B expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for VPS33B

1 / 2 / 3

5 probe-sets matching VPS33B gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

44111_at2, 3 U133-B 1 1.00 1.00 1.00 1.00 AI672363 0.80 1.00 0.91 1

44111_at2, 3 U133-A 1 1.00 1.00 -- -- AI672363 0.80 1.00 0.91 1

218415_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018668 0.60 1.00 0.82 1

44111_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

218415_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CTGCTAAGAT

SOURCE GeneReport for Unigene cluster: Hs.718508

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267
Tissue specificity: Ubiquitous; highly expressed in testis and low expression in the lung

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for VPS33B gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
VPS33B1   -- vacuolar protein sorting 33 homolog B (yeast) 92.49(n)
97.41(a)
479048  XM_536197.2  XP_536197.2 
chimpanzee
(Pan troglodytes)
VPS33B1   -- vacuolar protein sorting 33 homolog B (yeast) 99.51(n)
99.68(a)
453657  XM_001170269.1  XP_001170269.1 
cow
(Bos taurus)
VPS33B1   -- vacuolar protein sorting 33 homolog B (yeast) 91.25(n)
97.73(a)
526538  NM_001046284.1  NP_001039749.1 
rat
(Rattus norvegicus)
Vps33b1   -- vacuolar protein sorting 33 homolog B (yeast) 90.71(n)
96.6(a)
64060  NM_022286.2  NP_071622.1 
mouse
(Mus musculus)
Vps33b1, 5 75
vacuolar protein sorting 33B (yeast)1, 5 91.19(n)1
97.08(a)1
2334051  NM_178070.31  NP_835171.11 
 AA8216075  AA9583495  (see all 16)
About this table        Species with no ortholog for VPS33B

ENSEMBL Gene Tree for VPS33B
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for VPS33B gene
VPS33A2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/217 NCBI SNPs in VPS33B are shown (see all 217 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 57)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 15 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs8768741,2
A,F,H,O89342739(-) tcctcT/Aaccat 1 -- ng515Minor allele frequency- A:0.25MN EU EA WA 600
rs121489021,2
A,C,F,H89367509(+) ttcggG/Atattg 1 -- ng314Minor allele frequency- A:0.03EU EA WA 418
rs71626851,2
A,C,F,H89367866(+) tatttT/Ctatgt 1 -- ng314Minor allele frequency- C:0.24EU EA WA 418
rs110739641,2
A,C,F,H89344765(+) ACCACT/CGAAGA 1 S/G mis113Minor allele frequency- C:0.24EU EA WA NA 1158
rs129073811,2
C,F,H89342652(+) AAGTCA/GTTTTC 1 -- ng518Minor allele frequency- G:0.05EU EA WA 838
rs121488291,2
C,F,H89367228(+) tcaagC/Tctcaa 1 -- ng314Minor allele frequency- T:0.03EU EA WA 420
rs110739671,2
C,F,H89366808(+) CTTCTG/ACCAGA 1 -- ut5111Minor allele frequency- A:0.21NA EU EA WA 922
--
rs31774281,2
C,F89344767(-) CGTCTT/CCGGTG 1 S/F mis1 ese34Minor allele frequency- C:0.09EU EA WA 418
rs22896171,2
F,H89366490(-) GTGACC/GGCTGC 1 -- ut51 ese35Minor allele frequency- G:0.03EA EU WA 1914
--
rs115426381,2
C,F,H89362065(-) TGGATA/CGAATT 1 R/R syn1 ese34Minor allele frequency- C:0.30MN EU EA 484
About this table

HapMap Linkage Disequilibrium images for VPS33B (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608552   disorders: 208085  

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267

  • Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome
    (ARC) [MIM:208085]. ARC is an autosomal recessive multisystem disorder, characterized by
    neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis
    with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is
    common
  • Human Gene Mutation Database: VPS33B
    Human Genome Epidemiology Navigator: VPS33B (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for VPS33B gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 26276 HGNC: 12712 AceView: VPS33B Ensembl:ENSG00000184056 euGenes: HUgn26276
    ECgene: VPS33B H-InvDB: VPS33B
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for VPS33B:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for VPS33B-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for VPS33B Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for VPS33B Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (VPS33B)
     Antibodies (VPS33B)
     Search for Chimera RNAi
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (VPS33B)
     Antibodies (VPS33B)
     Search OriGene for VPS33B
     Search Tocris compounds for VPS33B




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for VPS33B

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

    Random Gene From GIFtS : about GIFtS

    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    VPS33B Gene at Home site.
    Version 2.41.1
    server5.xennexinc.com