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    VPS26A VPS26, retromer complex component A [ Homo sapiens (human) ]

    Gene ID: 9559, updated on 4-Feb-2018
    Official Symbol
    VPS26Aprovided by HGNC
    Official Full Name
    VPS26, retromer complex component Aprovided by HGNC
    Primary source
    HGNC:HGNC:12711
    See related
    Ensembl:ENSG00000122958 MIM:605506; Vega:OTTHUMG00000018376
    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
    HB58; PEP8A; VPS26; Hbeta58
    Summary
    This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 20.4), esophagus (RPKM 15.7) and 25 other tissues See more
    Orthologs
    Location:
    10q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (69124153..69174416)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70883908..70932617)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378342 Neighboring gene serglycin Neighboring gene ribosomal protein S12 pseudogene 17 Neighboring gene Suv3 like RNA helicase Neighboring gene uncharacterized LOC101928994 Neighboring gene hexokinase domain containing 1

    • 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?

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
    NHGRI GWA Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Depletion of VPS26 by siRNA increases plasma membrane expression of HIV-1 gp120/gp41 and incorporation into viral particles, indicating that VPS26 regulates gp120/gp41 trafficking in cells PubMed
    Envelope transmembrane glycoprotein gp41 env The gp41 cytoplasmic tail binds directly to retromer components VPS26 and VPS35 in HIV-1-infected cells PubMed
    env Depletion of VPS26 by siRNA increases plasma membrane expression of HIV-1 gp120/gp41 and incorporation into viral particles, indicating that VPS26 regulates gp120/gp41 trafficking in cells PubMed
    env The gp41 cytoplasmic tail determines sensitivity to VPS26 depletion in HIV-1-infected cells, and the cytoplasmic tail alone is sufficient for trafficking of Env through the retromer-containing compartment PubMed

    Go to the HIV-1, Human Interaction Database

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • WNT ligand biogenesis and trafficking, organism-specific biosystem (from REACTOME)
      WNT ligand biogenesis and trafficking, organism-specific biosystem19 WNT proteins have been identified in human cells. The WNTs are members of a conserved metazoan family of secreted morphogens that activate several signaling pathways in the responding cell: the c...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde transport, endosome to Golgi NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retrograde transport, endosome to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
     
    retromer complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retromer complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retromer, cargo-selective complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retromer, cargo-selective complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    tubular endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    vacuolar protein sorting-associated protein 26A
    Names
    VPS26 retromer complex comonent A
    vacuolar protein sorting 26 homolog A
    vesicle protein sorting 26A

    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_001035260.2NP_001030337.1  vacuolar protein sorting-associated protein 26A isoform 2

      See identical proteins and their annotated locations for NP_001030337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift and early translation termination, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF054179, AL596223, BQ068008, BX647725, DA498726
      Consensus CDS
      CCDS41536.1
      UniProtKB/Swiss-Prot
      O75436
      Related
      ENSP00000378532.1, ENST00000395098.5
      Conserved Domains (1) summary
      pfam03643
      Location:8243
      Vps26; Vacuolar protein sorting-associated protein 26
    2. NM_001318944.1NP_001305873.1  vacuolar protein sorting-associated protein 26A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional exon in the 5' region, and it thus differs in its 5' UTR 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)
      AK309021, AL596223, BX647725, DA498726
      Conserved Domains (1) summary
      pfam03643
      Location:45276
      Vps26; Vacuolar protein sorting-associated protein 26
    3. NM_001318945.1NP_001305874.1  vacuolar protein sorting-associated protein 26A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK297142, AL596223, BX647725, DA498726
      UniProtKB/TrEMBL
      B4DLT1
      Conserved Domains (1) summary
      pfam03643
      Location:34266
      Vps26; Vacuolar protein sorting-associated protein 26
    4. NM_001318946.1NP_001305875.1  vacuolar protein sorting-associated protein 26A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (5) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AF054179, AL596223, BX647725, DA498726
      UniProtKB/Swiss-Prot
      O75436
      Conserved Domains (1) summary
      pfam03643
      Location:1172
      Vps26; Vacuolar protein sorting-associated protein 26
    5. NM_004896.4NP_004887.2  vacuolar protein sorting-associated protein 26A isoform 1

      See identical proteins and their annotated locations for NP_004887.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF054179, AL596223, BX647725, DA498726
      Consensus CDS
      CCDS7286.1
      UniProtKB/Swiss-Prot
      O75436
      Related
      ENSP00000263559.6, ENST00000263559.10
      Conserved Domains (1) summary
      pfam03643
      Location:8283
      Vps26; Vacuolar protein sorting-associated protein 26

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      69124153..69174416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      71165665..71215913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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