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VPS33B Gene

protein-coding   GIFtS: 53

GC15M067652
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
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
vacuolar protein sorting 33 homolog B (yeast)1 2
FLJ148481 2
hVPS33B2 3
vacuolar protein sorting 33B (yeast homolog)1
vacuolar protein sorting-associated protein 33B2
vacuolar protein sorting 33B2

External Ids:    HGNC: 127121   Entrez Gene: 262762   Ensembl: ENSG000001840567   UniProtKB: Q9H2673   

Export aliases for VPS33B gene to outside databases

Previous GC identifers: GC15P087731 GC15M084982 GC15M089129 GC15M089271 GC15M089342 GC15M091541


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

Entrez Gene 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. Mediates phagolysosomal fusion in macrophages

Gene Wiki entry for VPS33B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VPS33B gene promoter:
         CUTL1   MEF-2A   IRF-1   RORalpha1   POU2F1   p53   YY1   GCNF-1   GCNF-2   POU2F2B   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for VPS33B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for VPS33B 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
VPS33B gene location

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M067652:  view genomic region     (about GC identifiers)

Start:
67,652,646 bp from pter
End:
67,676,700 bp from pter
Size:
24,055 bases
Orientation:
minus strand

1 alternative location:
Chr15- 91,541,646-91,565,833     
RefSeq DNA sequence:
NC_000015.9  NT_010274.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 33B  
Size: 617 amino acids; 70585 Da
Subunit: Interacts with RAB11A and VIPAR. Interacts with M.tuberculosis PtpA
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. Colocalizes with M.tuberculosis PtpA in the cytosol of tuberculosis-infected macrophages and
associates with phagosomes
Caution: Acccording to PubMed:18474358, it is autophosphorylated. However, it is not related with protein kinases,
suggesting it is phosphorylated by another protein
Secondary accessions: Q96K14 Q9NRP6 Q9NSF3

Explore the universe of human proteins at neXtProt for VPS33B: NX_Q9H267 

Post-translational modifications:

  • Phosphorylated on tyrosine residues. Dephosphorylation by M.tuberculosis PtpA is necessary to induce the reduction of
  • host phagolysosome fusion in M.tuberculosis-infected macrophages1


    REFSEQ proteins: NP_061138.3  

    ENSEMBL proteins: 
    ENSP00000327650 


    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
    OriGene Purified Protein: VPS33B
    OriGene Protein Over-expression Lysate: VPS33B
    GenScript Custom Purified and Recombinant Proteins Services for VPS33B 
    Novus Biologicals Proteins for VPS33B
    Novus Biologicals Lysates for VPS33B
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/9 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IDA15052268
    GO:0005764 lysosome IDA15052268
    GO:0005765 lysosomal membrane IEA--
    GO:0005770 late endosome IDA15052268
    GO:0016020 membrane IEA--
    About this table

    VPS33B for ontologies           About GeneDecksing



    Antibodies for VPS33B: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for VPS33B
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for VPS33B 
    Novus Biologicals Antibodies for VPS33B
    Browse antibodies at Epitomics

    Assays for VPS33B: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VPS33B 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for VPS33B 


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

    VPS33B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001619 Sec1-like

    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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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. Mediates phagolysosomal fusion in macrophages

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for VPS33B
    Sigma-Aldrich shRNA for VPS33B
    OriGene 29mer shRNA kits in GFP-retroviral vector: VPS33B
    OriGene shRNA RFP: VPS33B
    OriGene basic RS shRNA: VPS33B
    OriGene siRNA: VPS33B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VPS33B 
    miRNA:Sigma-Aldrich microRNA Mimics for VPS33B
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VPS33B 
    6 SABiosciences Assays for microRNAs that regulate VPS33B:
    hsa-miR-424 hsa-miR-15a hsa-miR-497 hsa-miR-195 hsa-miR-16 hsa-miR-15b

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: VPS33B
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: VPS33B
    OriGene untagged cDNA clones in CMV expression vector (see all 2): VPS33B
    OriGene 3'-UTR clone: VPS33B 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for VPS33B 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for VPS33B 

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI19109425
    About this table

    VPS33B for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for VPS33B 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VPS33B

    5/758 Interacting proteins for VPS33B (Q9H2671, 2) via UniProtKB, MINT, and/or STRING (see all 758)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf133Q9H9C11, 2EBI-749072,EBI-749080 MINT-67422
    VIPARQ9H9C11, 2
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    ABCF3Q9NUQ82MINT-7945693 MINT-7947479
    ACTBP607092MINT-7945693 MINT-7947479
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006904 vesicle docking involved in exocytosis IEA--
    GO:0006944 cellular membrane fusion IMP15052268
    GO:0015031 protein transport IMP15052268
    GO:0016192 vesicle-mediated transport IDA15790593
    GO:0032400 melanosome localization IDA15790593
    About this table

    VPS33B for ontologies           About GeneDecksing



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

    Browse Tocris compounds for VPS33B


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for VPS33B
    Sigma-Aldrich shRNA for VPS33B
    OriGene 29mer shRNA kits in GFP-retroviral vector: VPS33B
    OriGene shRNA RFP: VPS33B
    OriGene basic RS shRNA: VPS33B
    OriGene siRNA: VPS33B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VPS33B 
    miRNA: Sigma-Aldrich microRNA Mimics for VPS33B
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VPS33B 
    6 SABiosciences Assays for microRNAs that regulate VPS33B:
    hsa-miR-424 hsa-miR-15a hsa-miR-497 hsa-miR-195 hsa-miR-16 hsa-miR-15b
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: VPS33B
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: VPS33B
    OriGene untagged cDNA clones in CMV expression vector (see all 2): VPS33B
    OriGene 3'-UTR Clone: VPS33B 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for VPS33B 
    Primers: OriGene genome-wide validated SYBR primer pairs: VPS33B
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VPS33B: PPH17023A

    REFSEQ mRNAs for VPS33B gene: 

    NM_018668.3  

    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.97842704 
    DT.100776664  DT.121031276  DT.121031348  DT.92433072  DT.100774402  DT.121031283  DT.121031395 

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

    AA700425 BP357794 CR604260 BM828487 AI631066 AA626231 BX281265 NM_018668 
    CF132227 AI127886 BM713195 AI271343 AA463624 BC016445 AA452072 AI589203 
    BQ898937 BI554047 BM988158 CA429118 BU741299 AW139485 AK074863 BQ066026 

    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.728254  [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, and UCSC links where relevant:
    ENST00000333371(uc002bqp.1 uc002bqq.1 uc010uqu.1)

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    VPS33B expression in normal and diseased human tissues

    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

    VPS33B for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    VPS33B gene expression
    VPS33B gene electronic northern expression
    VPS33B gene sage expression
    About these images

    CGAP SAGE TAG: CTGCTAAGAT

    SOURCE GeneReport for Unigene cluster: Hs.728254

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

    Primers: OriGene genome-wide validated SYBR primer pairs: VPS33B
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VPS33B: PPH17023A
        SABiosciences Custom PCR Arrays for VPS33B 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, 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 7 (45.59 cM)5
    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 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for VPS33B gene
    VPS33A2  

    VPS33B for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/375 NCBI SNPs in VPS33B are shown (see all 375)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs8731301,2
    C,F,O,A,H,91560078(+) TGAAAT/CTGTAA 1 -- int19Minor allele frequency- C:0.20MN NS EA NA WA 812
    rs8768741,2
    C,F,O,A,91541735(-) tcctcT/Aaccat 1 -- ng3110Minor allele frequency- A:0.26MN NS EA NA WA 814
    rs11083511,2
    C,F,91562937(+) TAAAAC/ACATCC 1 -- int118Minor allele frequency- A:0.35NS EA NA WA 1480
    rs18672241,2
    --91564068(-) AGTGGC/TGCGAT 1 -- int10--------
    rs18672251,2
    C,F,A,91563829(-) CCGGCC/TTCTTT 1 -- int1 trp312Minor allele frequency- T:0.30NA NS EA WA 642
    rs19729261,2
    C,A,H,91557186(-) caggcG/Atgaac 1 -- int11Minor allele frequency- A:0.50NA 2
    rs22896171,2
    C,F91565486(-) GTGACC/GGCTGC 1 -- ut51 ese35Minor allele frequency- G:0.03EA NS 1914
    rs28920681,2
    C,91559921(+) CTTGCG/AGGTTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs30804631,2
    --91560653(+) tatat-/ATATA 
            
    tCTGT
    1 -- int10--------
    rs31774281,2
    C,F91543763(-) CGTCTT/CCGGTG 2 /S /F mis1 ref1 ese34Minor allele frequency- C:0.09NS EA 418
    About this table

    HapMap Linkage Disequilibrium images for VPS33B (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for VPS33B
         2 CNVs: 4910 4909

    QIAGEN SeqTarget long-range PCR primers for resequencing VPS33B 

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

    VPS33B for disorders           About GeneDecksing

    OMIM: 608552   disorders: 208085  

    UniProtKB/Swiss-Prot: VP33B_HUMAN, Q9H267

  • Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1)
  • [MIM:208085]. ARCS1 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 (HGMD): VPS33B
    Human Genome Epidemiology (HuGE) Navigator: VPS33B (1 document)

    Export disorders and mutations for VPS33B gene to outside databases


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

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

    10/21 PubMed articles for VPS33B gene, integrated from 7 sources (see all 21):
    (articles sorted by number of sources associating them with VPS33B)
    1. Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B. (PubMed id 18474358)1, 2, 7 Bach H....Av-Gay Y. (2008)
    2. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. (PubMed id 15052268)1, 2 Gissen P.... Maher E.R. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33. (PubMed id 11250079)1, 2 Huizing M.... Kraemer H. (2001)
    6. Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. (PubMed id 10894945)1, 2 Carim-Todd L.... Escarceller M. (2000)
    7. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. (PubMed id 8996080)1, 3 Pevsner J.... Scheller R.H. (1996)
    8. Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. (PubMed id 15790593)1, 7 Gissen P....Maher E.R. (2005)
    9. Mutations in VIPAR cause an arthrogryposis, renal dys function and cholestasis syndrome phenotype with defects in epithelial polariza tion. (PubMed id 20190753)2 Cullinane A.R....Gissen P. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26276 HGNC: 12712 AceView: VPS33B Ensembl:ENSG00000184056 euGenes: HUgn26276
    ECgene: VPS33B H-InvDB: VPS33B

    (According to HUGE)
    About This Section
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    (Patent information from GeneIP,
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