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Vps33b vacuolar protein sorting 33B [ Mus musculus (house mouse) ]

Gene ID: 233405, updated on 8-Dec-2022

Summary

Official Symbol
Vps33bprovided by MGI
Official Full Name
vacuolar protein sorting 33Bprovided by MGI
Primary source
MGI:MGI:2446237
See related
Ensembl:ENSMUSG00000030534 AllianceGenome:MGI:2446237
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Involved in megakaryocyte development; platelet alpha granule organization; and regulation of platelet aggregation. Acts upstream of or within several processes, including collagen fibril organization; collagen metabolic process; and peptidyl-lysine hydroxylation. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and perinuclear region of cytoplasm. Predicted to be part of CORVET complex. Predicted to be active in lysosome. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vestibulo-cochlear ganglion. Used to study ARC syndrome. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita; arthrogryposis, renal dysfunction, and cholestasis 1; cholestasis; and kidney disease. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 8.7), CNS E14 (RPKM 7.5) and 28 other tissues See more
Orthologs
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Genomic context

See Vps33b in Genome Data Viewer
Location:
7; 7 D2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (79919369..79941327)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (80269621..80291579)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase-like family, member 13 Neighboring gene neugrin, neurite outgrowth associated Neighboring gene RCC1 domain containing 1 Neighboring gene protein regulator of cytokinesis 1 Neighboring gene unc-45 myosin chaperone A

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC36556

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within collagen metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within collagen metabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in endosome organization ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lysosome localization ISO
Inferred from Sequence Orthology
more info
 
involved_in megakaryocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in melanosome localization ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane fusion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within peptidyl-lysine hydroxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within peptidyl-lysine hydroxylation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in platelet alpha granule organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in platelet alpha granule organization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
PubMed 
Component Evidence Code Pubs
part_of CORVET complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in clathrin-coated vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endosome ISO
Inferred from Sequence Orthology
more info
 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in platelet alpha granule ISO
Inferred from Sequence Orthology
more info
 
is_active_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 
part_of vesicle tethering complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 33B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_178070.4NP_835171.2  vacuolar protein sorting-associated protein 33B

    See identical proteins and their annotated locations for NP_835171.2

    Status: VALIDATED

    Source sequence(s)
    AK032076, AU257277, BC028783, CD560991
    Consensus CDS
    CCDS39997.1
    UniProtKB/Swiss-Prot
    P59016
    UniProtKB/TrEMBL
    Q8C076
    Related
    ENSMUSP00000032749.6, ENSMUST00000032749.12
    Conserved Domains (1) summary
    pfam00995
    Location:37605
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    79919369..79941327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242473.1XP_030098333.1  vacuolar protein sorting-associated protein 33B isoform X1

    Conserved Domains (1) summary
    pfam00995
    Location:37368
    Sec1; Sec1 family