Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VPS13D Gene

protein-coding   GIFtS: 51
GCID: GC01P012290

Vacuolar Protein Sorting 13 Homolog D (S. Cerevisiae)

(Previous name: vacuolar protein sorting 13D (yeast))
  See 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)
About This Section

Aliases
Vacuolar Protein Sorting 13 Homolog D (S. Cerevisiae)1 2
Vacuolar Protein Sorting 13D (Yeast)1
Vacuolar Protein Sorting 13D2
Vacuolar Protein Sorting-Associated Protein 13D2
KIAA04533

External Ids:    HGNC: 235951   Entrez Gene: 551872   Ensembl: ENSG000000487077   OMIM: 6088775   UniProtKB: Q5THJ43   

Export aliases for VPS13D gene to outside databases

Previous GC identifers: GC01P012096 GC01P012003 GC01P012224 GC01P011443


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VPS13D Gene:
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast,
vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi
network and the prevacuolar compartment. While several transcript variants may exist for this gene, the
full-length natures of only two have been described to date. These two represent the major variants of this gene
and encode distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for VPS13D Gene: 
VPS13D (vacuolar protein sorting 13 homolog D (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS13D include chorea-acanthocytosis, and acanthocytosis. An important paralog of this gene is VPS13B.

Gene Wiki entry for VPS13D 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VPS13D gene promoter:
         Bach1   POU3F1   MyoD   PPAR-gamma1   AP-2beta   Chx10   PPAR-gamma2   AP-2alpha   RSRFC4   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS13D promoter sequence
   Search SABiosciences Chromatin IP Primers for VPS13D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS13D


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.21

VPS13D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS13D gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P012290:  view genomic region     (about GC identifiers)

Start:
12,290,113 bp from pter      End:
12,572,099 bp from pter
Size:
281,987 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 13D  
Size: 4387 amino acids; 491845 Da
Sequence caution: Sequence=BAC86054.1; Type=Frameshift; Positions=3073; Sequence=CAE46021.1; Type=Frameshift;
Positions=3688;
Secondary accessions: Q58F10 Q6MZK9 Q6ZV12 Q709C4 Q709C5 Q86UB4 Q9NSJ3 Q9UIM0
Alternative splicing: 2 isoforms:  Q5THJ4-1   Q5THJ4-2   

Explore the universe of human proteins at neXtProt for VPS13D: NX_Q5THJ4

Explore proteomics data for VPS13D at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5THJ4

  • VPS13D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VPS13D Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_056193.2  NP_060626.2  

    ENSEMBL proteins: 
     ENSP00000350854   ENSP00000348666   ENSP00000011700   ENSP00000473375   ENSP00000469344  
     ENSP00000441122   ENSP00000444120  

    Human Recombinant Protein Products for VPS13D: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for VPS13D
    GenScript Custom Purified and Recombinant Proteins Services for VPS13D
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VPS13D 


    VPS13D Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for VPS13D
    GenScript Custom Superior Antibodies Services for VPS13D
    Novus Biologicals VPS13D Antibody
    Abcam antibodies for VPS13D
    Cloud-Clone Corp. Antibodies for VPS13D 
    Search ThermoFisher Antibodies for VPS13D
    Search LSBio for Antibodies for VPS13D 

    Assay Products for VPS13D: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for VPS13D
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VPS13D
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for VPS13D 
    Cloud-Clone Corp. CLIAs for VPS13D


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR000449 UBA/transl_elong_EF1B_N
     IPR026847 VPS13
     IPR015940 UBA/transl_elong_EF1B_N_euk
     IPR009543 VPSAP_dom
     IPR009060 UBA-like

    Graphical View of Domain Structure for InterPro Entry Q5THJ4

    ProtoNet protein and cluster: Q5THJ4

    1 Blocks protein domain: IPB009543 Protein of unknown function DUF1162

    UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4
    Similarity: Belongs to the VPS13 family
    Similarity: Contains 1 UBA domain


    VPS13D for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    VPS13D for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS13D:
     Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Vps13d):
     mortality/aging 

    VPS13D for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for VPS13D 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for VPS13D

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS13D 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS13D 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VPS13D
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS13D (see all 38):
    hsa-miR-579 hsa-let-7a-2* hsa-miR-301a hsa-miR-1304 hsa-miR-1276 hsa-miR-376a* hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidVPS13D 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for VPS13D
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VPS13D

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VPS13D


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for VPS13D (see all 8)
    OriGene ORF clones in mouse, rat for VPS13D
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VPS13D (NM_015378)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS13D
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VPS13D

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for VPS13D
    Search LifeMap BioReagents cell lines for VPS13D
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13D


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VPS13D

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for VPS13D (Q5THJ43 ENSP000003508544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MADDQ8WXG63, ENSP000003109334I2D: score=2 STRING: ENSP00000310933
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    STK4Q130433I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VPS13D (VP13D)

    Search CenterWatch for drugs/clinical trials and news about VPS13D / VP13D

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VPS13D gene (2 alternative transcripts): 
    NM_015378.2  NM_018156.2  

    Unigene Cluster for VPS13D:

    Vacuolar protein sorting 13 homolog D (S. cerevisiae)
    Hs.439381  [show with all ESTs]
    Unigene Representative Sequence: NM_015378
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358136(uc001atv.3 uc001atx.3) ENST00000356315(uc001atw.3 uc010obd.2)
    ENST00000476169 ENST00000489961 ENST00000011700 ENST00000460333 ENST00000487188(uc001aty.1)
    ENST00000469054 ENST00000496628(uc009vnl.3) ENST00000466732 ENST00000476045
    ENST00000481484 ENST00000471923 ENST00000473099 ENST00000543766 ENST00000543710

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VPS13D
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS13D (see all 38):
    hsa-miR-579 hsa-let-7a-2* hsa-miR-301a hsa-miR-1304 hsa-miR-1276 hsa-miR-376a* hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidVPS13D 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for VPS13D
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VPS13D
    Clone
    Products:
         
    OriGene clones in human, mouse for VPS13D (see all 8)
    OriGene ORF clones in mouse, rat for VPS13D
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VPS13D (NM_015378)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS13D
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VPS13D
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for VPS13D
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VPS13D
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VPS13D
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VPS13D

    Additional mRNA sequence: 

    AB007922.3 AF052104.1 AJ608774.1 AJ608775.1 AK001481.1 AK025257.1 AK026719.1 AK057675.1 
    AK074350.1 AK095438.1 AK125118.1 AK129744.1 AK295882.1 AK304850.1 AL162331.1 AL833079.1 
    AL833320.1 BC025329.1 BC028115.1 BC042006.1 BC051804.1 BX641035.1 

    24/26 DOTS entries (see all 26):

    DT.454038  DT.99958709  DT.121343277  DT.91730142  DT.100019600  DT.100821613  DT.95178106  DT.40263238 
    DT.100821608  DT.91744433  DT.440095  DT.101958787  DT.121343270  DT.40275774  DT.91659298  DT.91705470 
    DT.91730139  DT.91744424  DT.95166162  DT.95178113  DT.95243118  DT.95299349  DT.99943365  DT.70103658 

    24/359 AceView cDNA sequences (see all 359):

    AK129744 AA417587 F03896 AK125118 BM719208 BE502967 AA310563 CK299402 
    AI521901 AL118592 N73777 AA648845 CA428010 AI394626 AJ608775 CD655090 
    AA434381 AI754796 AA099548 BF111962 AW574767 AI285397 CA392561 BC025329 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for VPS13D (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                      -                                                                                                                     
    SP2:                                      -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45 ^
    SP1:                                                                                                        -                 -                                 
    SP2:                                                                                                        -     -           -                                 
    SP3:                                                                                                        -                 -                                 
    SP4:                                                                                                        -     -           -                                 
    SP5:                                                                                                                                                            

    ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71a ·
    SP1:                                      -                                                                                   -                 -     -     -   
    SP2:                                      -                                                                                   -                 -     -     -   
    SP3:                                      -                                                                                   -                 -     -     -   
    SP4:                                      -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 71b ^ 72a · 72b · 72c · 72d · 72e ^
    SP1:                                -   
    SP2:                                -   
    SP3:                                -   
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for VPS13D

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VPS13D expression in normal human tissues (normalized intensities)      VPS13D embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    VPS13D Expression
    About this image


    VPS13D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             postcentral gyrus   
     
     Testis (Reproductive System)
             sperm   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Epithelium
             breast epithelium   

    See VPS13D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VPS13D

    SOURCE GeneReport for Unigene cluster: Hs.439381

    UniProtKB/Swiss-Prot: VP13D_HUMAN, Q5THJ4
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for VPS13D
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for VPS13D
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VPS13D
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VPS13D
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VPS13D
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13D

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for VPS13D gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps13d1 , 5 vacuolar protein sorting 13 D (yeast)1, 5 87.09(n)1
    93.41(a)1
      4 (78.17 cM)5
    2308951  NM_001128198.11  NP_001121670.11 
     1449726265 
    chicken
    (Gallus gallus)
    Aves VPS13D1 vacuolar protein sorting 13 homolog D (S. cerevisiae) 75.67(n)
    82.51(a)
      419481  XM_003642515.1  XP_003642563.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    VPS13D6
    Uncharacterized protein
    85(a)
    70(a)
    1 ↔ many
    1 ↔ many
    GL344449.1(36442-50509)
    GL344268.1(3746-56714)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ625028.12   -- 75.53(n)    BJ625028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vps13d1 vacuolar protein sorting 13D (yeast) 65.08(n)
    67.88(a)
      567879  XM_001919953.3  XP_001919988.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321131 CG32113 45.31(n)
    34.37(a)
      39448  NM_168512.2  NP_729825.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C25H3.81 Protein C25H3.8 42.88(n)
    30.79(a)
      173962  NM_062709.3  NP_495110.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS136
    Protein of unknown function; heterooligomeric or h...
    16(a)
    1 → many
    XII(54211-63645)


    ENSEMBL Gene Tree for VPS13D (if available)
    TreeFam Gene Tree for VPS13D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VPS13D gene
    VPS13B2  VPS13A2  VPS13C2  

    VPS13D for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5144 SNPs in VPS13D are shown (see all 5144)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505982431,2
    C,Funtested112378274(+) GCCACC/TGTAAC 4 R C mis12Minor allele frequency- T:0.00NA EU 5873
    rs1887046131,2
    --12288258(+) CACCGC/TGCCTG 2 -- us2k10--------
    rs1814051061,2
    --12288279(+) TGTGCA/GTTTCT 2 -- us2k10--------
    rs1459339871,2
    --12288378(+) CTTCTA/GTCTGT 2 -- us2k10--------
    rs1869548001,2
    --12288497(+) TCAGCC/TCAACA 2 -- us2k10--------
    rs1170134551,2
    C,F--12288532(+) TGAGGG/CTTGGT 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1709571,2
    C,F,A--12288869(-) aaaatG/Aaaaat 2 -- us2k1 tfbs35Minor allele frequency- A:0.17NA WA CSA 126
    rs4290251,2
    C,F--12288935(-) gaggcG/Agaggt 2 -- us2k13Minor allele frequency- A:0.17NA WA 6
    rs1916986981,2
    --12288942(+) CCTCCC/TGGGTT 2 -- us2k10--------
    rs1822561261,2
    --12288972(+) AGCTTC/TCCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for VPS13D (12290113 - 12540113 bp, first 250kb of VPS13D)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for VPS13D:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2743809CNV Deletion23290073
    esv2667673CNV Deletion23128226
    nsv508891CNV Insertion20534489
    nsv817617CNV Loss17921354
    nsv2743CNV Loss18451855
    nsv2854CNV Loss18451855
    esv275384CNV Loss21479260
    nsv528439CNV Loss19592680
    nsv517848CNV Gain19592680
    nsv471622CNV Gain+Loss15918152

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS13D
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS13D

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608877    OMIM disorders: --

    4 diseases for VPS13D:    About MalaCards
    chorea-acanthocytosis    acanthocytosis    chorea    breast cancer

    1 disease from the University of Copenhagen DISEASES database for VPS13D:
    chorea-acanthocytosis

    VPS13D for disorders           About GeneDecksing

    Genetic Association Database (GAD): VPS13D
    Human Genome Epidemiology (HuGE) Navigator: VPS13D (2 documents)

    Export disorders for VPS13D 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)
    About This Section

    PubMed articles for VPS13D gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with VPS13D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Identification of evidence suggestive of an associati on with peripheral arterial disease at the OSBPL10 locus by genome-wide investi gation in the Japanese population. (PubMed id 20610895)1, 4 Koriyama H....Morishita R. (2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Analysis of the human VPS13 gene family. (PubMed id 15498460)1, 2 Velayos-Baeza A....Monaco A.P. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (1997)
    8. Identification of proteins associated with ligand-acti vated estrogen receptor a in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55187 HGNC: 23595 AceView: VPS13D Ensembl:ENSG00000048707 euGenes: HUgn55187
    ECgene: VPS13D H-InvDB: VPS13D

    (According to HUGE)
    About This Section
    HUGE: KIAA0453

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VPS13D Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VPS13D Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VPS13D gene:
    Search GeneIP for patents involving VPS13D

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for VPS13D  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for VPS13D  
     OriGene qSTAR qPCR primer pairs in human, mouse for VPS13D   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for VPS13D   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for VPS13D   OriGene Custom Protein Services for VPS13D  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VPS13D
     QIAGEN SeqTarget long-range PCR primers for resequencing VPS13D
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS13D
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VPS13D
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VPS13D
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VPS13D
     GenScript Custom Purified and Recombinant Proteins Services for VPS13D GenScript cDNA clones with any tag delivered in your preferred vector for VPS13D
     GenScript Custom Assay Services for VPS13D GenScript Custom Superior Antibodies Services for VPS13D
     GenScript Custom overexpressing Cell Line Services for VPS13D CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in VPS13D promoter
     Search Chromatin IP Primers for VPS13D
     RT2 qPCR Primer Assay in human, mouse, rat VPS13D
     Search GNC Networks for VPS13D
     SABiosciences Custom PCR Arrays for VPS13D
     Search Tocris compounds for VPS13D (VP13D)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     VPS13D antibodies
     Antibodies for VPS13D
     See all of Abcam's Antibodies, Kits and Proteins for VPS13D
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for VPS13D
     Antibodies for VPS13D
     ELISAs for VPS13D
     CLIAs for VPS13D
     Search LifeMap BioReagents cell lines for VPS13D
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13D
     SwitchGear 3'UTR luciferase reporter plasmids for VPS13D
     SwitchGear Promoter luciferase reporter plasmids for VPS13D
     Search ThermoFisher Antibodies for VPS13D
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VPS13D
     inGenious Targeting Laboratory - Custom generated mouse model solutions for VPS13D
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for VPS13D
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     Search LSBio for Antibodies for VPS13D
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      VPS13D gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4