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VPS13A Gene

protein-coding   GIFtS: 59
GCID: GC09P079793

Vacuolar Protein Sorting 13 Homolog A (S. Cerevisiae)

(Previous names: chorea acanthocytosis, vacuolar protein sorting 13A (yeast))
(Previous symbol: CHAC)
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(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 13 Homolog A (S. Cerevisiae)1 2     CHOREIN2
CHAC1 2 3 5     Vacuolar Protein Sorting 13A2
Chorea-Acanthocytosis Protein2 3     Vacuolar Protein Sorting-Associated Protein 13A2
Chorea Acanthocytosis1     Chorein3
chorein1     KIAA09863
Vacuolar Protein Sorting 13A (Yeast)1     

External Ids:    HGNC: 19081   Entrez Gene: 232302   Ensembl: ENSG000001979697   OMIM: 6059785   UniProtKB: Q96RL73   

Export aliases for VPS13A gene to outside databases

Previous GC identifers: GC09P075249 GC09P077021 GC09P078982 GC09P049623


(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 VPS13A Gene:
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to
endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder,
chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. (provided by
RefSeq, Jul 2008)

GeneCards Summary for VPS13A Gene:
VPS13A (vacuolar protein sorting 13 homolog A (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS13A include chorea, and chorea-acanthocytosis. An important paralog of this gene is VPS13B.

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7
Function: May play a role in the control of protein cycling through the trans-Golgi network to early and late
endosomes, lysosomes and plasma membrane

Gene Wiki entry for VPS13A 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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS13A gene promoter:
         HOXA9   HOXA9B   Pbx1a   AML1a   Meis-1b   YY1   N-Myc   Max   c-Myc   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS13A promoter sequence
   Search Chromatin IP Primers for VPS13A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS13A


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

Entrez Gene cytogenetic band: 9q21   Ensembl cytogenetic band:  9q21.2   HGNC cytogenetic band: 9q21

VPS13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS13A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P079793:  view genomic region     (about GC identifiers)

Start:
79,792,269 bp from pter      End:
80,036,457 bp from pter
Size:
244,189 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 13A  
Size: 3174 amino acids; 360276 Da
Sequence caution: Sequence=AAH20576.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q5JSX9 Q5JSY0 Q5VYR5 Q702P4 Q709D0 Q86YF8 Q96S61 Q9H995 Q9Y2J1
Alternative splicing: 4 isoforms:  Q96RL7-1   Q96RL7-2   Q96RL7-3   Q96RL7-4   

Explore the universe of human proteins at neXtProt for VPS13A: NX_Q96RL7

Explore proteomics data for VPS13A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys2228, Lys2923, Lys2988, Lys3000
  • Modification sites at PhosphoSitePlus

  • See VPS13A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001018047.1  NP_001018048.1  NP_056001.1  NP_150648.2  

    ENSEMBL proteins: 
     ENSP00000365821   ENSP00000365823   ENSP00000353422   ENSP00000349985   ENSP00000437478  
     ENSP00000414410   ENSP00000446020   ENSP00000365834   ENSP00000441840  

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    Cloud-Clone Corp. Proteins for VPS13A

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    Cloud-Clone Corp. CLIAs for VPS13A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015412 Autophagy-rel_C
     IPR009543 VPSAP_dom
     IPR026847 VPS13
     IPR026854 VPS13A_N

    Graphical View of Domain Structure for InterPro Entry Q96RL7

    ProtoNet protein and cluster: Q96RL7

    1 Blocks protein domain: IPB009543 Protein of unknown function DUF1162

    UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7
    Similarity: Belongs to the VPS13 family
    Similarity: Contains 10 TPR repeats


    VPS13A 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VP13A_HUMAN, Q96RL7
    Function: May play a role in the control of protein cycling through the trans-Golgi network to early and late
    endosomes, lysosomes and plasma membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
         
    VPS13A for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vps13a):
     behavior/neurological  hematopoietic system  nervous system 

    VPS13A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vps13atm1Asan for VPS13A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS13A
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS13A

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    miRTarBase miRNAs that target VPS13A:
    hsa-mir-15b-5p (MIRT046430), hsa-mir-21-5p (MIRT030908)

    Block miRNA regulation of human, mouse, rat VPS13A using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate VPS13A:
    hsa-miR-499-5p hsa-miR-518a-5p hsa-miR-586 hsa-miR-3065-5p hsa-miR-3119 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidVPS13A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VPS13A

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13A


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion2
    plasma membrane2
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS11381254
    GO:0031045dense core granule IEA--

    VPS13A for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including VPS13A: 
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for VPS13A

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

    Selected Interacting proteins for VPS13A (Q96RL71, 3 ENSP000003534224) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006895Golgi to endosome transport NAS11381253
    GO:0007399nervous system development IEA--
    GO:0007626locomotory behavior IEA--
    GO:0008104protein localization NAS11381254
    GO:0008219cell death IEA--

    VPS13A for ontologies           About GeneDecksing



    (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 VPS13A (VP13A)

    1 Novoseek inferred chemical compound relationship for VPS13A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 33.4 1 18785241 (1)



    VPS13A for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VPS13A gene (4 alternative transcripts): 
    NM_001018037.1  NM_001018038.2  NM_015186.3  NM_033305.2  

    Unigene Cluster for VPS13A:

    Vacuolar protein sorting 13 homolog A (S. cerevisiae)
    Hs.459790  [show with all ESTs]
    Unigene Representative Sequence: AF337532
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376634(uc004akp.4) ENST00000376636(uc004aks.3) ENST00000360280(uc004akr.3)
    ENST00000357409(uc010mpo.1 uc004akq.4) ENST00000471439 ENST00000423463
    ENST00000493341 ENST00000419472(uc004akt.3) ENST00000539950 ENST00000355766
    ENST00000484581 ENST00000376646 ENST00000467124

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate VPS13A:
    hsa-miR-499-5p hsa-miR-518a-5p hsa-miR-586 hsa-miR-3065-5p hsa-miR-3119 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidVPS13A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VPS13A
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): VPS13A (NM_015186)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS13A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS13A
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for VPS13A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VPS13A
      QuantiTect SYBR Green Assays in human, mouse, rat VPS13A
      QuantiFast Probe-based Assays in human, mouse, rat VPS13A

    Additional mRNA sequence: 

    AB023203.1 AB054005.1 AF337532.1 AJ608769.1 AJ626859.1 AK000273.1 AK022967.1 AK027023.1 
    AK124024.1 BC020576.1 BC041852.1 

    10 DOTS entries:

    DT.100775273  DT.310392  DT.100707617  DT.97795858  DT.440997  DT.97803626  DT.101981083  DT.40208402 
    DT.86851769  DT.87046558 

    Selected AceView cDNA sequences (see all 142):

    BQ718291 AW967417 AW189007 AL710498 AI700589 BM126912 BU902765 BQ011213 
    BX111825 BM968882 BC020576 AB023203 AI984315 AK124024 AW301250 AJ430440 
    AA954429 AJ608769 AA913330 BE348288 AI279826 CK818729 AJ626859 AI287913 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS13A (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
    SP1:                                                                          -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for VPS13A

    (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 Genevestigator, and/or 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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    VPS13A expression in normal human tissues (normalized intensities)      VPS13A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAAACAC
    VPS13A Expression
    About this image


    VPS13A 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
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             pre Conventional Dendritic Cells Peripheral Blood
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    VPS13A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS13A Protein Expression

    Genevestigator expression for VPS13A

    SOURCE GeneReport for Unigene cluster: Hs.459790

    UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7
    Tissue specificity: Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including VPS13A: 
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat VPS13A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13A

    (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 animals and fungi.

    Orthologs for VPS13A gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps13a1 , 5 vacuolar protein sorting 13A (yeast)1, 5 85.19(n)1
    84.52(a)1
      19 (11.71 cM)5
    2715641  NM_173028.41  NP_766616.21 
     166167635 
    chicken
    (Gallus gallus)
    Aves VPS13A1 vacuolar protein sorting 13 homolog A (S. cerevisiae) 70.81(n)
    66.99(a)
      427050  NM_001277836.1  NP_001264765.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS13A6
    vacuolar protein sorting 13 homolog A (S. cerevisi...
    62(a)
    1 ↔ 1
    2(45719732-45909328)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX758733.12   -- 73.73(n)    BX758733.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chac2 chorea acanthocytosis 74.43(n)   378837  AF533660.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vps131 Vacuolar protein sorting 13 46.09(n)
    33.9(a)
      35693  NM_001273852.1  NP_001260781.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T08G11.11 T08G11.1 46.85(n)
    32.62(a)
      172705  NM_171842.3  NP_740900.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS13(YLL040C)4
    VPS131
    Protein of unknown function; heterooligomeric or homooligomeric more4
    VPS131
    43.8(n)1
    28.46(a)1
      12(63645-54211)4
    8506191, 4  NP_013060.11, 4 


    ENSEMBL Gene Tree for VPS13A (if available)
    TreeFam Gene Tree for VPS13A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS13A gene
    VPS13B2  VPS13D2  VPS13C2  
    1 SIMAP similar gene for VPS13A using alignment to 4 protein entries:     VP13A_HUMAN (see all proteins):
    VPS13C

    VPS13A 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), 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 VPS13A (see all 4910)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0581204
    Choreoacanthocytosis (CHAC)4--see VAR_0581202 W R mis40--------
    VAR_0128034
    Choreoacanthocytosis (CHAC)4--see VAR_0128032 S P mis40--------
    VAR_0363244
    A colorectal cancer sample4--see VAR_0363242 R H mis40--------
    VAR_0581164
    Choreoacanthocytosis (CHAC)4--see VAR_0581162 A P mis40--------
    VAR_0384214
    Choreoacanthocytosis (CHAC)4--see VAR_0384212 Y C mis40--------
    rs289393791,2,4
    Choreoacanthocytosis (CHAC)4--see VAR_0384202 mis40--------
    rs106848181,2
    C--49756962(+) CTCAT-/CA    
       C
    /CAT
    TGAAA
    8 -- cds11CSA 2
    rs679113261,2
    C--49756963(+) TCATT-/CA    
       C
    /CAT
    GAAAA
    8 -- cds10--------
    rs361011761,2
    C--49765542(+) ACTCA-/AAAAAA 4 -- int10--------
    rs58985331,2
    C--49765556(+) AAAAA-/A/AA  
            
    GAAAA
    4 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for VPS13A (79792269 - 80036457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for VPS13A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2613215CNV Deletion19546169
    esv2672384CNV Deletion23128226
    nsv521364CNV Loss19592680
    nsv893484CNV Loss21882294
    esv7342OTHER Inversion19470904

    Human Gene Mutation Database (HGMD): VPS13A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS13A
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS13A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605978   
    OMIM disorders: 200150  
    UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7
  • Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized
    by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the
    brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy,
    peripheral neuropathy, myopathy and oral self-mutilation. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for VPS13A (see all 21):    About MalaCards
    chorea    chorea-acanthocytosis    levine-critchley syndrome    acanthocytosis
    lingual-facial-buccal dyskinesia    mcleod syndrome    neuroacanthocytosis    hypobetalipoproteinemia
    abetalipoproteinemia    axonal neuropathy    huntington's disease    peripheral neuropathy
    neuropathy    myopathy    breast and colorectal cancer    type 1 diabetes
    colorectal cancer    multiple myeloma    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for VPS13A:
    chorea-acanthocytosis     Huntington's disease

    VPS13A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for VPS13A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chacs 99 40 12404112 (7), 14663054 (4), 17345646 (2), 17070500 (2) (see all 14)
    chorea-acanthocytosis 98.5 14 14663054 (2), 12404112 (2), 15293285 (1), 15498460 (1) (see all 8)
    huntington disease 66.8 3 17345646 (1), 15293285 (1), 11761473 (1)
    neurodegenerative diseases 56.8 4 15914612 (1), 17070500 (1), 17673232 (1)

    GeneTests: VPS13A
    GeneReviews: VPS13A
    Genetic Association Database (GAD): VPS13A
    Human Genome Epidemiology (HuGE) Navigator: VPS13A (2 documents)

    Export disorders for VPS13A 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 VPS13A gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with VPS13A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A conserved sorting-associated protein is mutant in chorea- acanthocytosis. (PubMed id 11381253)1, 2, 3 Rampoldi L.... Monaco A.P. (Nat. Genet. 2001)
    2. Analysis of the human VPS13 gene family. (PubMed id 15498460)1, 2, 9 Velayos-Baeza A....Monaco A.P. (Genomics 2004)
    3. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. (PubMed id 11381254)1, 2, 9 Ueno S.... Sano A. (Nat. Genet. 2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. 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. (Genome Res. 2004)
    8. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    9. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. (PubMed id 9382101)1, 3 Rubio J.P....Monaco A.P. (Am. J. Hum. Genet. 1997)
    10. Mutational spectrum of the CHAC gene in patients with chorea- acanthocytosis. (PubMed id 12404112)2, 9 Dobson-Stone C.... Monaco A.P. (Eur. J. Hum. Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 23230 HGNC: 1908 AceView: VPS13A Ensembl:ENSG00000197969 euGenes: HUgn23230
    ECgene: VPS13A H-InvDB: VPS13A

    (According to HUGE)
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    HUGE: KIAA0986

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VPS13A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VPS13A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VPS13A gene:
    Search GeneIP for patents involving VPS13A

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



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