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    VPS33A VPS33A core subunit of CORVET and HOPS complexes [ Homo sapiens (human) ]

    Gene ID: 65082, updated on 4-Jul-2021

    Summary

    Official Symbol
    VPS33Aprovided by HGNC
    Official Full Name
    VPS33A core subunit of CORVET and HOPS complexesprovided by HGNC
    Primary source
    HGNC:HGNC:18179
    See related
    Ensembl:ENSG00000139719 MIM:610034
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPSPS
    Summary
    This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 7.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See VPS33A in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122229564..122266494, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122714111..122751041, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC101593348 Neighboring gene CAP-Gly domain containing linker protein 1 Neighboring gene coiled-coil domain containing 150 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DIABLO

    Homology

    Clone Names

    • FLJ22395, FLJ23187

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    vacuolar protein sorting-associated protein 33A
    Names
    VPS33A, CORVET/HOPS core subunit
    vacuolar protein sorting 33 homolog A
    vacuolar protein sorting 33A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_054909.1 RefSeqGene

      Range
      5028..41958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351018.2NP_001337947.1  vacuolar protein sorting-associated protein 33A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC048338, AI830457
      Conserved Domains (1) summary
      pfam00995
      Location:23573
      Sec1; Sec1 family
    2. NM_001351019.2NP_001337948.1  vacuolar protein sorting-associated protein 33A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC048338, AI830457
      Conserved Domains (1) summary
      pfam00995
      Location:18568
      Sec1; Sec1 family
    3. NM_001351020.2NP_001337949.1  vacuolar protein sorting-associated protein 33A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the central coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC048338, AI830457
      Conserved Domains (1) summary
      pfam00995
      Location:34477
      Sec1; Sec1 family
    4. NM_001351021.2NP_001337950.1  vacuolar protein sorting-associated protein 33A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 3' coding region, includes an alternate penultimate exon, and differs in the 3' UTR, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC048338, BF510648, BX337807, CK024047
      Consensus CDS
      CCDS86339.1
      Related
      ENSP00000442951.1, ENST00000451053.3
      Conserved Domains (1) summary
      pfam00995
      Location:34165
      Sec1; Sec1 family
    5. NM_022916.6NP_075067.2  vacuolar protein sorting-associated protein 33A isoform 1

      See identical proteins and their annotated locations for NP_075067.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC048338, AI830457, BC016617, BP199163
      Consensus CDS
      CCDS9231.1
      UniProtKB/Swiss-Prot
      Q96AX1
      Related
      ENSP00000267199.3, ENST00000267199.9
      Conserved Domains (1) summary
      pfam00995
      Location:34584
      Sec1; Sec1 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      122229564..122266494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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