Human Gene VPS33B (ENST00000333371.8_7) from GENCODE V47lift37
  Description: VPS33B late endosome and lysosome associated, transcript variant 1 (from RefSeq NM_018668.5)
Gencode Transcript: ENST00000333371.8_7
Gencode Gene: ENSG00000184056.15_9
Transcript (Including UTRs)
   Position: hg19 chr15:91,541,903-91,565,824 Size: 23,922 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr15:91,542,205-91,565,479 Size: 23,275 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:91,541,903-91,565,824)mRNA (may differ from genome)Protein (617 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: VP33B_HUMAN
DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 33B; Short=hVPS33B;
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.
SUBUNIT: Interacts with RAB11A and VIPAS39. Interacts with M.tuberculosis PtpA.
INTERACTION: Q9H9C1:SPE39; NbExp=17; IntAct=EBI-749072, EBI-749080;
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. Colocalizes in clusters with VIPAS39 at cytoplasmic organelles.
TISSUE SPECIFICITY: Ubiquitous; highly expressed in testis and low expression in the lung.
PTM: Phosphorylated on tyrosine residues. Dephosphorylation by M.tuberculosis PtpA is necessary to induce the reduction of host phagolysosome fusion in M.tuberculosis-infected macrophages.
DISEASE: 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.
SIMILARITY: Belongs to the STXBP/unc-18/SEC1 family.
CAUTION: According to PubMed:18474358, it is autophosphorylated. However, it is not related with protein kinases, suggesting it is phosphorylated by another protein.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: VPS33B
Diseases sorted by gene-association score: arthrogryposis, renal dysfunction, and cholestasis 1* (1320), vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome* (100), cholestasis (25), neurogenic arthrogryposis multiplex congenita (14), bile duct disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.48 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 375.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -148.20345-0.430 Picture PostScript Text
3' UTR -84.60302-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001619 - Sec1-like

Pfam Domains:
PF00995 - Sec1 family

SCOP Domains:
56815 - Sec1/munc18-like (SM) proteins

ModBase Predicted Comparative 3D Structure on Q9H267
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
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 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006904 vesicle docking involved in exocytosis
GO:0007032 endosome organization
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0017185 peptidyl-lysine hydroxylation
GO:0032400 melanosome localization
GO:0032418 lysosome localization
GO:0032963 collagen metabolic process
GO:0061025 membrane fusion
GO:0070889 platelet alpha granule organization
GO:0008333 endosome to lysosome transport
GO:0097352 autophagosome maturation

Cellular Component:
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0030136 clathrin-coated vesicle
GO:0031091 platelet alpha granule
GO:0031410 cytoplasmic vesicle
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0030123 AP-3 adaptor complex
GO:0030897 HOPS complex
GO:0071439 clathrin complex


-  Descriptions from all associated GenBank mRNAs
  AL357472 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 41400.
BC016445 - Homo sapiens vacuolar protein sorting 33 homolog B (yeast), mRNA (cDNA clone MGC:17462 IMAGE:3449387), complete cds.
AF201694 - Homo sapiens vacuolar protein sorting 33B (VPS33B) mRNA, complete cds.
AF308803 - Homo sapiens vacuolar protein sorting protein 33B (VPS33B) mRNA, complete cds.
AK074863 - Homo sapiens cDNA FLJ90382 fis, clone NT2RP2005069, highly similar to Vacuolar protein sorting 33B.
AK293688 - Homo sapiens cDNA FLJ55636 complete cds, highly similar to Vacuolar protein sorting 33B.
AK027754 - Homo sapiens cDNA FLJ14848 fis, clone PLACE1000492, highly similar to Rat vacuolar protein sorting homolog r-vps33b mRNA.
AK300608 - Homo sapiens cDNA FLJ56248 complete cds, highly similar to Vacuolar protein sorting 33B.
AK315721 - Homo sapiens cDNA, FLJ96823.
KJ898617 - Synthetic construct Homo sapiens clone ccsbBroadEn_08011 VPS33B gene, encodes complete protein.
KU178590 - Homo sapiens vacuolar protein sorting 33-like protein B isoform 1 (VPS33B) mRNA, partial cds.
KU178591 - Homo sapiens vacuolar protein sorting 33-like protein B isoform 2 (VPS33B) mRNA, complete cds, alternatively spliced.
KU178592 - Homo sapiens vacuolar protein sorting 33-like protein B isoform 3 (VPS33B) mRNA, complete cds, alternatively spliced.
DQ594794 - Homo sapiens piRNA piR-60906, complete sequence.
CU677627 - Synthetic construct Homo sapiens gateway clone IMAGE:100019948 5' read VPS33B mRNA.
AK308480 - Homo sapiens cDNA, FLJ98521.
JD122646 - Sequence 103670 from Patent EP1572962.
JD113504 - Sequence 94528 from Patent EP1572962.
JD271689 - Sequence 252713 from Patent EP1572962.
JD100940 - Sequence 81964 from Patent EP1572962.
JD222959 - Sequence 203983 from Patent EP1572962.
JD057838 - Sequence 38862 from Patent EP1572962.
JD220688 - Sequence 201712 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQF6, ENST00000333371.1, ENST00000333371.2, ENST00000333371.3, ENST00000333371.4, ENST00000333371.5, ENST00000333371.6, ENST00000333371.7, NM_018668, Q96K14, Q9H267, Q9NRP6, Q9NSF3, uc317tqt.1, uc317tqt.2, VP33B_HUMAN
UCSC ID: ENST00000333371.8_7
RefSeq Accession: NM_018668.5
Protein: Q9H267 (aka VP33B_HUMAN or VP3B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.