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    Vps33a VPS33A CORVET/HOPS core subunit [ Mus musculus (house mouse) ]

    Gene ID: 77573, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Vps33aprovided by MGI
    Official Full Name
    VPS33A CORVET/HOPS core subunitprovided by MGI
    Primary source
    MGI:MGI:1924823
    See related
    Ensembl:ENSMUSG00000029434 AllianceGenome:MGI:1924823
    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
    Also known as
    bf; 3830421M04Rik
    Summary
    Acts upstream of or within pigmentation; platelet formation; and regulation of developmental pigmentation. Located in autophagosome and lysosome. Part of CORVET complex. Is expressed in ganglia. Used to study Hermansky-Pudlak syndrome. Orthologous to human VPS33A (VPS33A core subunit of CORVET and HOPS complexes). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 12.1), frontal lobe adult (RPKM 11.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Vps33a in Genome Data Viewer
    Location:
    5 F; 5 63.03 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (123666820..123711104, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (123528757..123573043, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2175 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene diablo, IAP-binding mitochondrial protein Neighboring gene microRNA 7647 Neighboring gene STARR-positive B cell enhancer mm9_chr5:123993667-123993967 Neighboring gene STARR-positive B cell enhancer ABC_E2176 Neighboring gene CAP-GLY domain containing linker protein 1 Neighboring gene STARR-seq mESC enhancer starr_14324 Neighboring gene predicted gene, 24840 Neighboring gene STARR-seq mESC enhancer starr_14325 Neighboring gene zinc finger, CCHC domain containing 8 Neighboring gene STARR-seq mESC enhancer starr_14326

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. Effect of a coat color locus on kidney lysosomal glycosidases in the house mouse. Håkansson EM, et al. Biochem Genet, 1977 Feb. PMID 849254
    2. The Vps33a gene regulates behavior and cerebellar Purkinje cell number. Chintala S, et al. Brain Res, 2009 Apr 17. PMID 19254700, Free PMC Article
    3. Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A(D251E) mutation. Zhen Y, et al. Autophagy, 2015. PMID 26259518, Free PMC Article
    4. Vps33a mediates RANKL storage in secretory lysosomes in osteoblastic cells. Kariya Y, et al. J Bone Miner Res, 2009 Oct. PMID 19419298
    5. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Suzuki T, et al. Proc Natl Acad Sci U S A, 2003 Feb 4. PMID 12538872, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VPS33A(D251E) mutation plays dual roles by increasing the HOPS complex assembly and its association with the autophagic SNARE complex, which selectively affects the autophagosome-lysosome fusion.
      Title: Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A(D251E) mutation.
    2. Knockdown of Vps33a expression reduced the lysosomal storage of RANKL and caused the accumulation of newly synthesized RANKL in the Golgi apparatus, indicating that Vps33a is involved in transporting RANKL from the Golgi apparatus to secretory lysosomes.
      Title: Vps33a mediates RANKL storage in secretory lysosomes in osteoblastic cells.
    3. These studies suggest that loss of Purkinje neurons is the most obvious neurological atrophy in the buff mutant mouse, a structural change that generates motor coordination deficits and impaired postural phenotypes.
      Title: The Vps33a gene regulates behavior and cerebellar Purkinje cell number.
    4. VPS33A is mutated in Hermansky-Pudlak syndrome and may have a role in melanogenesis
      Title: The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Spontaneous (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagosome maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagosome maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome to lysosome transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in melanosome localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in melanosome localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lysosomal lumen pH ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of lysosomal lumen pH ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of AP-3 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of CORVET complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of CORVET complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HOPS complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of HOPS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of clathrin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of clathrin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar protein sorting-associated protein 33A
    Names
    buff
    vacuolar protein sorting 33A
    vacuolar sorting protein 33a

    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_001359513.1 → NP_001346442.1  vacuolar protein sorting-associated protein 33A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC129569
      UniProtKB/TrEMBL
      Q80XK7
      Conserved Domains (1) summary
      pfam00995
      Location:34 → 540
      Sec1; Sec1 family

    2. NM_029929.3 → NP_084205.3  vacuolar protein sorting-associated protein 33A isoform 1

      See identical proteins and their annotated locations for NP_084205.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK041982, AK140553, BB852750, BU703144
      Consensus CDS
      CCDS19666.1
      UniProtKB/Swiss-Prot
      Q8BGT3, Q9D2N9
      UniProtKB/TrEMBL
      Q80XK7
      Related
      ENSMUSP00000031388.9, ENSMUST00000031388.13
      Conserved Domains (1) summary
      pfam00995
      Location:34 → 586
      Sec1; Sec1 family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      123666820..123711104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530504.2 → XP_006530567.1  vacuolar protein sorting-associated protein 33A isoform X1

      Conserved Domains (1) summary
      pfam00995
      Location:34 → 329
      Sec1; Sec1 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D2N9.2 GenPept UniProtKB/Swiss-Prot:Q9D2N9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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