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

Gene ID: 77573, updated on 5-Mar-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, Apr 2022]
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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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
  • 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. 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
  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. Effect of a coat color locus on kidney lysosomal glycosidases in the house mouse. Håkansson EM, et al. Biochem Genet, 1977 Feb. PMID 849254
  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 (47) 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)
  • Spontaneous (1) 
  • Gene trapped (1) 
  • Endonuclease-mediated (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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within autophagy 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 ISO
Inferred from Sequence Orthology
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 
acts_upstream_of_or_within 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 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 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 ISO
Inferred from Sequence Orthology
more info
  
located_in autophagosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of clathrin complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
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
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane 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

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