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    VPS33B VPS33B, late endosome and lysosome associated [ Homo sapiens (human) ]

    Gene ID: 26276, updated on 8-Oct-2017
    Official Symbol
    VPS33Bprovided by HGNC
    Official Full Name
    VPS33B, late endosome and lysosome associatedprovided by HGNC
    Primary source
    HGNC:HGNC:12712
    See related
    Ensembl:ENSG00000184056 MIM:608552; Vega:OTTHUMG00000149835
    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
    Summary
    Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    15q26.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (90998416..91022621, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91541774..91565833, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RCC1 domain containing 1 Neighboring gene PRC1 antisense RNA 1 Neighboring gene protein regulator of cytokinesis 1 Neighboring gene uncharacterized LOC105370970 Neighboring gene VPS33B divergent transcript Neighboring gene golgin A2 pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Arthrogryposis renal dysfunction cholestasis syndrome
    MedGen: C1859722 OMIM: 208085 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ14848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    collagen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    megakaryocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-lysine hydroxylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet alpha granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle docking involved in exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with AP-3 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT HOPS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with HOPS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with clathrin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    vacuolar protein sorting-associated protein 33B
    Names
    vacuolar protein sorting 33 homolog B
    vacuolar protein sorting 33-like protein B

    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_012162.1 RefSeqGene

      Range
      4983..29188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_884

    mRNA and Protein(s)

    1. NM_001289148.1NP_001276077.1  vacuolar protein sorting-associated protein 33B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK074863, AK293688, CB048637, DC397488
      Consensus CDS
      CCDS73783.1
      UniProtKB/Swiss-Prot
      Q9H267
      UniProtKB/TrEMBL
      B7Z1N4, F5H008
      Related
      ENSP00000444053.1, OTTHUMP00000246709, ENST00000535906.1, OTTHUMT00000414774
      Conserved Domains (1) summary
      pfam00995
      Location:32578
      Sec1; Sec1 family
    2. NM_001289149.1NP_001276078.1  vacuolar protein sorting-associated protein 33B isoform 3

      See identical proteins and their annotated locations for NP_001276078.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK074863, CB048637, DC397488
      UniProtKB/Swiss-Prot
      Q9H267
      Conserved Domains (1) summary
      pfam00995
      Location:10514
      Sec1; Sec1 family
    3. NM_018668.4NP_061138.3  vacuolar protein sorting-associated protein 33B isoform 1

      See identical proteins and their annotated locations for NP_061138.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF201694, AF308803, CB048637, DC397488
      Consensus CDS
      CCDS10369.1
      UniProtKB/Swiss-Prot
      Q9H267
      UniProtKB/TrEMBL
      A0A0S2Z577
      Related
      ENSP00000327650.3, OTTHUMP00000194751, ENST00000333371.7, OTTHUMT00000313496
      Conserved Domains (1) summary
      pfam00995
      Location:37605
      Sec1; Sec1 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      90998416..91022621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521448.1XP_011519750.1  vacuolar protein sorting-associated protein 33B isoform X1

      See identical proteins and their annotated locations for XP_011519750.1

      UniProtKB/Swiss-Prot
      Q9H267
      Conserved Domains (1) summary
      pfam00995
      Location:10514
      Sec1; Sec1 family
    2. XM_017022076.1XP_016877565.1  vacuolar protein sorting-associated protein 33B isoform X3

    3. XM_017022075.1XP_016877564.1  vacuolar protein sorting-associated protein 33B isoform X3

    4. XM_011521449.2XP_011519751.1  vacuolar protein sorting-associated protein 33B isoform X2

      Conserved Domains (1) summary
      pfam00995
      Location:23497
      Sec1; Sec1 family
    5. XM_005254887.1XP_005254944.1  vacuolar protein sorting-associated protein 33B isoform X1

      See identical proteins and their annotated locations for XP_005254944.1

      UniProtKB/Swiss-Prot
      Q9H267
      Conserved Domains (1) summary
      pfam00995
      Location:10514
      Sec1; Sec1 family

    RNA

    1. XR_001751213.1 RNA Sequence

      Related
      ENST00000574755.5, OTTHUMT00000414773

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      91383216..91407410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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