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FLASH GENE
Symbol VPS11 contributors: mct - updated : 05-07-2017
HGNC name vacuolar protein sorting 11 homolog (S. cerevisiae)
HGNC id 14583
Corresponding disease
HLD12 hypomyelinating leukodystrophy-12
Location 11q23.3      Physical location : 118.938.492 - 118.952.686
Synonym name
  • vacuolar protein sorting 11 (yeast homolog)
  • RING finger protein 108
  • Synonym symbol(s) END1, PEP5, RNF108, PP3476, hVPS11, HLD12
    DNA
    TYPE functioning gene
    STRUCTURE 14.23 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KIAA0638 11q23.3 ubiquitin specific protease 2 TREH 11q23.3 trehalase (brush-border membrane glycoprotein) DDX6 11q23.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 LOC338656 11q23.3 similar to protein phosphatase 2A inhibitor-2 I-2PP2A BLR1 11q23.3 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) BCL9L 11q23.3 B-cell CLL/lymphoma 9-like UPK2 11q23 uroplakin 2 LOC283150 11q23.3 hypothetical protein LOC283150 DLNB14 11q23.3 similar to DLNB14 RPS25 11q23.3 ribosomal protein S25 TRAPPC4 11q23.3 trafficking protein particle complex 4 SLC37A4 11q23.3 solute carrier family 37 (glycerol-6-phosphate transporter), member 4 HYOU1 11q23.1-q23.3 hypoxia up-regulated 1 VPS11 11q23 vacuolar protein sorting 11 (yeast) HMBS 11q23.3 hydroxymethylbilane synthase H2AFX 11q23.3 H2A histone family, member X DPAGT1 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) KIAA0285 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) MIZF 11q23.3 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein ABCG4 11q23.3 ATP-binding cassette, sub-family G (WHITE), member 4 NOD9 11q23.3 NOD9 protein PDZK2 11q23.3 PDZ domain containing 2 LOC387812 11 LOC387812 CBL 11q23.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence MCAM 11q23.3 melanoma cell adhesion molecule RNF26 11q23 ring finger protein 26 C1QTNF5 11q23.3 C1q and tumor necrosis factor related protein 5 MFRP 11q23 membrane frizzled-related protein USP2 11q23.3 ubiquitin specific protease 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3279 107.7 941 - 2001 11250079
    16 - 3486 - 931 - 2001 11250079
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina    Other speciesFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Other speciesFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Other speciesFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • a 7-fold repeat common to clathrin and VPS proteins (two repeats)
  • an ATP/GTP binding site
  • a RING zinc finger motif
  • VPS11 C-terminal domain is a key integrator of VPS-C complex assembly, RAB signaling, and endosomal and lysosomal traffic
  • HOMOLOGY
    Homologene
    FAMILY
  • VPS11 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • delivery of protein to lysosomes
  • is not required for normal retinal development or initiation of melanin biosynthesis, but is required for melanosome maturation and healthy maintenance of the RPE and photoreceptors (PMId: 21622697)
  • is involved in regulation of glycolipid degradation and retrograde toxin transport
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • ECM29 binding VPS11, RAB11FIP4, and rabaptin
  • VPS18 N-terminal domain can interact with the N-terminal part of VPS11 and also binds to lipids
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLD12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to an impaired autophagic activity in human cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS