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VPS35 Gene

protein-coding   GIFtS: 63
GCID: GC16M046691

Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)

(Previous names: vacuolar protein sorting 35 (yeast homolog), vacuolar protein...)
  See VPS35-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)1 2     Vacuolar Protein Sorting 35 (Yeast Homolog)1
MEM32 3 5     Vacuolar Protein Sorting 35 (Yeast)1
Maternal-Embryonic 32 3     Vacuolar Protein Sorting-Associated Protein 352
hVPS352 3     Vesicle Protein Sorting 353
PARK172 5     

External Ids:    HGNC: 134871   Entrez Gene: 557372   Ensembl: ENSG000000693297   OMIM: 6015015   UniProtKB: Q96QK13   

Export aliases for VPS35 gene to outside databases

Previous GC identifers: GC16M037104 GC16M046634 GC16M046433 GC16M046475 GC16M046474 GC16M045251 GC16M032582


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS35 Gene:
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. (provided by
RefSeq, Jul 2008)

GeneCards Summary for VPS35 Gene:
VPS35 (vacuolar protein sorting 35 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS35 include vps35-related parkinson disease, and parkinson disease 17.

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors
(IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the
polymeric immunoglobulin receptor (pIgR-pIgA)

Gene Wiki entry for VPS35 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS35 gene promoter:
         STAT1   STAT4   STAT1beta   STAT5A   Nkx2-5   Cdc5   STAT1alpha   FAC1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS35 promoter sequence
   Search Chromatin IP Primers for VPS35

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS35


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12   Ensembl cytogenetic band:  16q11.2   HGNC cytogenetic band: 16q12

VPS35 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS35 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M046691:  view genomic region     (about GC identifiers)

Start:
46,690,054 bp from pter      End:
46,723,430 bp from pter
Size:
33,377 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 35  
Size: 796 amino acids; 91707 Da
Subunit: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2.
Interacts directly with VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35
and SFN. Interacts with GOLPH3
Sequence caution: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14626.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for VPS35:
2R17 (3D)    
Secondary accessions: Q561W2 Q9H016 Q9H096 Q9H4P3 Q9H8J0 Q9NRS7 Q9NVG2 Q9NX80 Q9NZK2

Explore the universe of human proteins at neXtProt for VPS35: NX_Q96QK1

Explore proteomics data for VPS35 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys24, Lys396
  • Modification sites at PhosphoSitePlus

  • See VPS35 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060676.2  
    ENSEMBL proteins: 
     ENSP00000299138   ENSP00000456274   ENSP00000461469   ENSP00000461423  
    Reactome Protein details: Q96QK1

    VPS35 Human Recombinant Protein Products:

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    antibodies-online proteins for VPS35 (6 products) 

     
    antibodies-online peptides for VPS35

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    2 InterPro protein domains:
     IPR016024 ARM-type_fold
     IPR005378 Vps35

    Graphical View of Domain Structure for InterPro Entry Q96QK1

    ProtoNet protein and cluster: Q96QK1

    1 Blocks protein domain: IPB005378 Vacuolar protein sorting-associated protein 35

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Similarity: Belongs to the VPS35 family


    Find genes that share domains with VPS35           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPS35_HUMAN, Q96QK1
    Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors
    (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the
    polymeric immunoglobulin receptor (pIgR-pIgA)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI11102511
         
    Find genes that share ontologies with VPS35           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS35:
     Cell cycle / mitosis defect 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vps35):
     behavior/neurological  mortality/aging  nervous system  normal  other 

    Find genes that share phenotypes with VPS35           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VPS35

    miRNA
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    miRTarBase miRNAs that target VPS35:
    hsa-mir-590-3p (MIRT016199), hsa-mir-24-3p (MIRT030421), hsa-mir-27a-3p (MIRT028711), hsa-mir-15b-5p (MIRT046485), hsa-mir-342-3p (MIRT043692)

    Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
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    SwitchGear 3'UTR luciferase reporter plasmidVPS35 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPS35_HUMAN, Q96QK1: Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome4
    golgi apparatus2
    lysosome2
    nucleus2
    vacuole2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome IDA--
    GO:0005829cytosol TAS--
    GO:0030904retromer complex IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with VPS35           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VPS35 About    
    See pathways by source

    SuperPathContained pathways About
    1beta-catenin independent WNT signaling
    Signaling by Wnt0.79
    2Signaling by GPCR
    Signal Transduction0.58
    3Wnt Pathway
    WNT ligand biogenesis and trafficking0.56


    Find genes that share SuperPaths with VPS35           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for VPS35
        WNT ligand biogenesis and trafficking


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VPS35
    Interactions:

        GeneGlobe Interaction Network for VPS35

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VPS35 (Q96QK12, 3 ENSP000002991384) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60836 I2D: score=2 
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015031protein transport IEA--
    GO:0042147retrograde transport, endosome to Golgi NAS11102511

    Find genes that share ontologies with VPS35           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VPS35



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VPS35 gene: 
    NM_018206.4  

    Unigene Cluster for VPS35:

    Vacuolar protein sorting 35 homolog (S. cerevisiae)
    Hs.454528  [show with all ESTs]
    Unigene Representative Sequence: AK025774
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299138(uc002eef.4) ENST00000568784(uc002eed.3 uc002eee.3)
    ENST00000562420 ENST00000568642 ENST00000569950 ENST00000565228 ENST00000563884
    ENST00000568612 ENST00000561713 ENST00000568191 ENST00000563984
    miRNA
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    Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
    hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidVPS35 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF175265.1 AF183418.1 AF186382.1 AF191298.2 AK000395.1 AK001614.1 AK023650.1 AK025774.1 
    AK223218.1 AL136888.1 AL512769.1 AY007112.1 BC002414.2 BC010362.1 BC041367.2 BC093036.1 

    Selected DOTS entries (see all 33):

    DT.454462  DT.100881305  DT.95369874  DT.100881306  DT.100725496  DT.100881303  DT.100881298  DT.100881299 
    DT.211205  DT.95369860  DT.120665384  DT.120665392  DT.120665380  DT.120665354  DT.120665387  DT.95369869 
    DT.97860347  DT.101959592  DT.120665357  DT.120665389  DT.120665427  DT.100881297  DT.100881300  DT.100881308 

    Selected AceView cDNA sequences (see all 621):

    BM450432 BU686147 BG319524 AI302924 BQ431694 BP378317 CR602924 BM833729 
    CR626386 CR618276 N51792 AI245882 BU623352 CN484592 BQ645934 AI692468 
    AA149212 CB216653 BM996006 BM991546 AA251150 BC002414 BE093063 BQ433648 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS35 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                          -                 -     -                 -     -                                                                                 
    SP2:                                            -     -                 -     -                                                                                 
    SP3:                                            -     -     -     -     -                                                                                       
    SP4:                          -           -     -     -     -           -     -                                                                                 
    SP5:              -     -     -                 -     -                 -     -                                                                                 

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for VPS35

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VPS35 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCCTCTG
    VPS35 Expression
    About this image


    VPS35 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Stomach (Gastrointestinal Tract)
    VPS35 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS35 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.454528

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus,
    testis, ovary, small intestine, kidney and colon

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS35

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VPS35 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps351 , 5 vacuolar protein sorting 351, 5 91.46(n)1
    99.37(a)1
      8 (41.61 cM)5
    651141  NM_022997.41  NP_075373.11 
     852603925 
    chicken
    (Gallus gallus)
    Aves VPS351 vacuolar protein sorting 35 homolog (S. cerevisiae) less 84.21(n)
    97.99(a)
      415750  NM_001005842.1  NP_001005842.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS356
    vacuolar protein sorting 35 homolog (S. cerevisiae...
    92(a)
    1 ↔ 1
    LGc(3597898-3632336)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81442 Xenopus laevis transcribed sequence with strong similarity to protein refNP_060676.2 (H.sapiens) vacuolar protein sorting 35 (yeast); maternal-embryonic 3 [Homo sapiens] less 80.55(n)    CA988274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vps351 vacuolar protein sorting 35 (yeast) 76.76(n)
    93.97(a)
      561697  NM_001025517.2  NP_001020688.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56253
    Vps351
    vesicle-mediated transport3
    Vacuolar protein sorting 351
    58(a)3
    60.03(n)1
    63.33(a)1
      58C73
    375361  NM_137807.31  NP_611651.41 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-351 vps-35 55.04(n)
    49.94(a)
      174000  NM_062779.4  NP_495180.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS35(YJL154C)4
    VPS351
    Endosomal subunit of membrane-associated retromer complex required for retrograde transport; receptor that recognizes retrieval signals on cargo proteins, forms subcomplex with Vps26p and Vps29p that selects cargo proteins for retrieval less4
    VPS351
    52.12(n)1
    41.81(a)1
      10(133935-131101)4
    8532871, 4  NP_012381.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS35B1 VPS35B 52.62(n)
    44.88(a)
      843918  NM_106235.4  NP_177713.3 
    rice
    (Oryza sativa)
    Liliopsida AK069591.12   -- 72.38(n)    AK069591.1 


    ENSEMBL Gene Tree for VPS35 (if available)
    TreeFam Gene Tree for VPS35 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS35 gene
    1 SIMAP similar gene for VPS35 using alignment to 4 protein entries:     VPS35_HUMAN (see all proteins):
    DKFZp686O2462

    Find genes that share paralogs with VPS35           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for VPS35
    PGOHUM00000249099


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VPS35 (see all 554)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666594
    Parkinson disease 17 (PARK17)4--see VAR_0666592 D N mis40--------
    rs1882869431,2
    C,Fpathogenic147706410(+) GGAATC/TGCTGA 2 N D mis13Minor allele frequency- T:0.00EU 5092
    rs1842770921,2
    Cunknown147712965(+) AATCCG/ACTGAT 2 /R /W mis13Minor allele frequency- A:0.00EU 5096
    rs1850986741,2
    C--32591716(+) TAAAGA/-AAAAA 1 -- int12Minor allele frequency- -:0.00EU 3754
    rs58165591,2
    C--32597653(+) GTGGTA/-ACTGA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs3697560921,2
    C--46694101(+) GTTTT-/TTTGTTTT 2 -- ut310--------
    rs593708391,2
    C--46694124(+) TTTTT-/T/TT/ 
    TTT
    /TTTT
    ACAGA
    4 -- ut31 cds11NA 2
    rs582884361,2
    C--46712218(+) AAAAA-/AAAA  
      AAAAAA
    GCAAA
    1 -- int11Minor allele frequency- AAAAAAAAAA:0.00NA 2
    rs30405551,2
    C--46714944(+) CACAC-/A/AC/C
            
    TGTAT
    1 -- int11NA 2
    rs669448771,2
    C--46718147(+) GACCA-/ATCGAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for VPS35 (46690054 - 46723430 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VPS35:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428327CNV Gain18775914
    nsv526656CNV Gain19592680

    Human Gene Mutation Database (HGMD): VPS35
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS35
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS35

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601501   
    OMIM disorders: 614203  
    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
  • Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease.
    Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular
    rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa.
    The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies
    (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for VPS35:    
    About MalaCards
    vps35-related parkinson disease    parkinson disease 17    eales disease    parkinson's disease
    parkinson disease 1

    1 disease from the University of Copenhagen DISEASES database for VPS35:
    Parkinson's disease

    Find genes that share disorders with VPS35           About GenesLikeMe


    Export disorders for VPS35 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VPS35 gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with VPS35)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. VPS35 mutations in Parkinson disease. (PubMed id 21763482)1, 2, 3 Vilarino-Guell C.... Farrer M.J. (Am. J. Hum. Genet. 2011)
    2. Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21. (PubMed id 11112353)1, 2, 3 Zhang P.... Zhao S. (Genomics 2000)
    3. Human homologues of yeast vacuolar protein sorting 29 and 35. (PubMed id 11062004)1, 2, 9 Edgar A.J. and Polak J.M. (Biochem. Biophys. Res. Commun. 2000)
    4. Identification of VPS35 mutations replicated in French families with Parkinson disease. (PubMed id 22517097)1, 2 Lesage S.... Brice A. (Neurology 2012)
    5. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PubMed id 21763483)1, 2 Zimprich A.... Strom T.M. (Am. J. Hum. Genet. 2011)
    6. GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. (PubMed id 19553991)1, 2 Scott K.L.... Chin L. (Nature 2009)
    7. Functional architecture of the retromer cargo-recognition complex. (PubMed id 17891154)1, 2 Hierro A.... Hurley J.H. (Nature 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Exportin 7 defines a novel general nuclear export pathway. (PubMed id 15282546)1, 2 Mingot J.-M.... Goerlich D. (EMBO J. 2004)
    10. The mammalian retromer regulates transcytosis of the polymeric immunoglobulin receptor. (PubMed id 15247922)1, 2 Verges M.... Mostov K.E. (Nat. Cell Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55737 HGNC: 13487 AceView: VPS35 Ensembl:ENSG00000069329 euGenes: HUgn55737
    ECgene: VPS35 H-InvDB: VPS35

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VPS35 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for VPS35 gene:
    Search GeneIP for patents involving VPS35

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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