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VPS13A Gene

protein-coding   GIFtS: 60

GC09P049623
vacuolar protein sorting 13 homolog A (S. cerevisiae)
(Previous names: chorea acanthocytosis, vacuolar protein sorting 13A (yeast) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CHAC)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
vacuolar protein sorting 13 homolog A (S. cerevisiae)1 2     CHOREIN2
KIAA09861 2 3     vacuolar protein sorting-associated protein 13A2
CHAC2 3 5     vacuolar protein sorting 13A2
Chorea-acanthocytosis protein2 3     FLJ420302
chorea acanthocytosis1     Chorein3
vacuolar protein sorting 13A (yeast)1     

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

Export aliases for VPS13A gene to outside databases

Previous GC identifers: GC09P075249 GC09P077021 GC09P078982 GC09P079793


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

Entrez Gene summary for VPS13A:
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VPS13A gene promoter:
         RFX1   RORalpha2   E47   ATF-2   POU2F1   MIF-1   E4BP4   FOXO3a   FOXO3b   Pax-5   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for VPS13A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P049623:  view genomic region     (about GC identifiers)

Start:
49,623,817 bp from pter
End:
49,863,840 bp from pter
Size:
240,024 bases
Orientation:
plus strand

1 alternative location:
Chr9+ 79,792,361-80,036,457     
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000348011 ENSP00000365834 ENSP00000349985 ENSP00000365823 ENSP00000353422 ENSP00000365821 
    ENSP00000414410 ENSP00000394843 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    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
    GenScript Custom Purified and Recombinant Proteins Services for VPS13A 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular NAS11381254
    About this table

    VPS13A for ontologies           About GeneDecksing



    Antibodies for VPS13A: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for VPS13A
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for VPS13A 
    Novus Biologicals Antibody for VPS13A
    Browse antibodies at Epitomics

    Assays for VPS13A: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VPS13A 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for VPS13A 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    VPS13A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015412 Autophagy-related_C
     IPR009543 VPSAP

    Graphical View of Domain Structure for InterPro Entry Q96RL7

    ProtoNet protein and cluster: Q96RL7

    1 Blocks protein family: IPB009543 Protein of unknown function DUF1162

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for VPS13A
    Sigma-Aldrich shRNA for VPS13A
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): VPS13A
    OriGene shRNA RFP (see all 4): VPS13A
    OriGene basic RS shRNA (see all 4): VPS13A
    OriGene siRNA (see all 4): VPS13A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VPS13A 
    miRNA:Sigma-Aldrich microRNA Mimics for VPS13A
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VPS13A 
    Search SABiosciences for Assays for microRNAs that regulate VPS13A

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene untagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene 3'-UTR clone (see all 4): VPS13A 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): VPS13A 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for VPS13A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17474147
    About this table

    VPS13A for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vps13a):

    behavior/neurologicalhematopoietic systemnervous system

    VPS13A for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Pathway-Focused PCR Array including VPS13A: PAHS-090A 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VPS13A

    5 Interacting proteins for VPS13A (Q96RL71, 2) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 2EBI-1752583,EBI-389883 MINT-7247614 MINT-7249426 MINT-7250434
    ABL1P005191, 2EBI-1752583,EBI-375543 MINT-7243978
    FYNP062411, 2EBI-1752583,EBI-515315 MINT-7247074
    PIK3R1P279861, 2EBI-1752583,EBI-79464 MINT-7251442
    GRB2P629931EBI-1752583,EBI-401755
    About this table

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006895 Golgi to endosome transport NAS11381253
    GO:0007399 nervous system development ----
    GO:0007626 locomotory behavior ----
    GO:0008104 protein localization NAS11381254
    GO:0015031 protein transport IEA--
    About this table

    VPS13A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    VPS13A for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

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



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for VPS13A
    Sigma-Aldrich shRNA for VPS13A
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): VPS13A
    OriGene shRNA RFP (see all 4): VPS13A
    OriGene basic RS shRNA (see all 4): VPS13A
    OriGene siRNA (see all 4): VPS13A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VPS13A 
    miRNA: Sigma-Aldrich microRNA Mimics for VPS13A
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VPS13A 
    Search SABiosciences for Assays for microRNAs that regulate VPS13A
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene untagged cDNA clones in CMV expression vector (see all 4): VPS13A
    OriGene 3'-UTR Clone (see all 4): VPS13A 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): VPS13A 
    Primers: OriGene genome-wide validated SYBR primer pairs: VPS13A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VPS13A: PPH09443A

    REFSEQ mRNAs for VPS13A gene (4 alternative transcripts): 

    NM_001018037.1  NM_001018038.2  NM_015186.3  NM_033305.2  

    Additional cDNA 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 

    24/142 AceView cDNA sequences (see all 142):

    AA669464 AW301250 CA406082 AW967417 AI279826 AI624765 AA132420 AI689898 
    BM968882 CA311450 AI984315 AB054005 AI287913 AL710498 BM837858 AI202451 
    F07287 BQ011213 AI700589 AA573476 AJ626859 BQ718291 AA702210 CK818729 

    highest scoring ESTs for VPS13A:

    AI084224 AA228874 AA328381 AA513312 AA702210 AA830309 AA888785 AB023203 AI218624 AI279826 

    Unigene Cluster for VPS13A:

    Vacuolar protein sorting 13 homolog A (S. cerevisiae)
    Hs.459790  [show with all ESTs]
    Unigene Representative Sequence: AF337532


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for VPS13A (see all 9)

    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:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for VPS13A
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355766 ENST00000376646(uc004akr.2) ENST00000357409(uc004akq.3)
    ENST00000493341 ENST00000376636(uc004aks.2) ENST00000360280 ENST00000376634(uc011lsn.1 uc004akp.3 uc010mpo.1)
    ENST00000471439 ENST00000419472(uc004akt.2) ENST00000477107 ENST00000484581
    ENST00000467124 ENST00000423463

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    VPS13A expression in normal and diseased human tissues

    1  / 2  / 3

    17 probe-sets matching VPS13A gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    55431_at2, 3 U95-B 1 1.00 1.00 0.93 0.90 AI218624 0.80 1.00 0.91 1
    54521_g_at2, 3 U95-B 1 1.00 1.00 0.83 1.12 AI084224 1.00 1.00 1.00 1
    54520_at2, 3 U95-B 1 1.00 1.00 0.88 1.23 AI084224 1.00 1.00 1.00 1
    55062_at2, 3 U95-C 1 0.88 1.00 0.88 0.97 AI301099 0.60 1.00 0.82 1
    40001_r_at2, 3 U95-A 1 0.81 1.00 0.09 0.17 AB023203 0.80 1.00 0.91 1
    40000_f_at2, 3 U95-A 1 0.69 1.00 0.53 0.81 AB023203 0.80 1.00 0.91 1
    38170_at2, 3 U95-A 1 0.31 1.00 0.57 0.99 AF070595 0.60 1.00 0.82 1
    227988_s_at2, 3 U133-B 1 1.00 1.00 -- -- AW629014 0.80 1.00 0.91 1
    227987_at2, 3 U133-B 1 1.00 1.00 -- -- AW629014 0.80 1.00 0.91 1
    214785_at2, 3 U133-A 1 0.91 1.00 -- -- AB023203 0.80 1.00 0.91 1
    213686_at2, 3 U133-A 1 0.36 1.00 -- -- AI186145 0.40 1.00 0.76 1
    214852_x_at2, 3 U133-A 1 0.27 1.00 -- -- BF573874 0.40 1.00 0.76 1
    227988_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    227987_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    214785_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    213686_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    214852_x_at2 U133Plus2 1 0.27 1.00 -- -- -- -- -- -- --
    About this table

    VPS13A for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    VPS13A gene expression
    VPS13A gene electronic northern expression
    VPS13A gene sage expression
    About these images

    CGAP SAGE TAG: GAATAAACAC

    SOURCE GeneReport for Unigene cluster: Hs.459790

    Expression variation in blood from EXPOLDB for VPS13A

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

    Primers: OriGene genome-wide validated SYBR primer pairs: VPS13A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VPS13A: PPH09443A
        SABiosciences Expression via Pathway-Focused PCR Array including VPS13A: PAHS-090A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for VPS13A gene from 5/16 species (see all 16)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    VPS13A1   -- vacuolar protein sorting 13 homolog A (S. cerevisiae) 89.98(n)
    87.99(a)
    476319  XM_533522.2  XP_533522.2 
    chimpanzee
    (Pan troglodytes)
    VPS13A1   -- vacuolar protein sorting 13 homolog A (S. cerevisiae) 99.76(n)
    99.65(a)
    464538  XM_001148547.1  XP_001148547.1 
    rat
    (Rattus norvegicus)
    Vps13a1   -- vacuolar protein sorting 13 homolog A (S. cerevisiae) 85.57(n)
    84.59(a)
    309243  XM_219672.4  XP_219672.4 
    mouse
    (Mus musculus)
    Vps13a1 , 5 19 (11.71 cM)5
    vacuolar protein sorting 13A (yeast)1, 5 85.2(n)1
    84.55(a)1
    2715641  NM_173028.31  NP_766616.21 
     AA5746465  AA7977565  (see all 39)
    zebrafish
    (Danio rerio)
    chac2   -- chorea acanthocytosis 74.43(n) 378837  AF533660.1 
    About this table        Species with no ortholog for VPS13A

    ENSEMBL Gene Tree for VPS13A (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for VPS13A gene
    VPS13D2  VPS13C2  

    VPS13A for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/2052 NCBI SNPs in VPS13A are shown (see all 2052)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs31771,2
    C,F,80032108(-) CTAAAT/CAGGAT 1 -- ut31 ese38Minor allele frequency- C:0.01MN NA NS EA 744
    rs91861,2
    C,F,O,A,80031946(+) CAGCTT/CATCAC 1 -- ut3120Minor allele frequency- C:0.40MN EA NA NS WA 2854
    rs8692411,2
    C,F,O,A,79935559(+) AGGATT/ATGAAA 4 -- int117Minor allele frequency- A:0.40NA EA MN NS WA 1488
    rs8693091,2
    C,F,79837550(-) acacaT/Cagaca 4 -- int14Minor allele frequency- C:0.04NA WA 192
    rs9553061,2
    C,F,O,A,79897372(+) ACTGGC/TGAAGA 4 -- int118Minor allele frequency- T:0.17NA EA MN NS WA 1328
    rs9553071,2
    C,F,79897729(+) CATGGT/GGGTGT 4 -- int13Minor allele frequency- G:0.08NA EA WA 210
    rs9893911,2
    C,F,A,80031487(+) GAATTG/ATACTT 1 -- ut31 ese39Minor allele frequency- A:0.12MN NA NS EA 818
    rs10487431,2
    C,80031864(+) CCTGTC/TCCGTT 1 -- ut31 ese32Minor allele frequency- T:0.02NA 74
    rs13173041,2
    C,F,A,79910414(-) AAATAC/AGACTT 4 -- int15Minor allele frequency- A:0.28NA EA WA 364
    rs13173051,2
    C,F,79910407(-) ACTTAT/CTAAAT 4 -- int11Minor allele frequency- C:0.14NA 72
    About this table

    HapMap Linkage Disequilibrium images for VPS13A (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for VPS13A
         1 CNV: 100675
         1 Inversion: 59870

    QIAGEN SeqTarget long-range PCR primers for resequencing VPS13A 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VPS13A for disorders           About GeneDecksing

    OMIM: 605978   disorders: 200150  

    UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

  • Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC) [MIM:200150]; also known as Levine-Critchley
  • syndrome. CHAC is 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

    4 Novoseek disease relationships for VPS13A gene

    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)
    About this table

    GeneTests: VPS13A
    Chorea-Acanthocytosis

    Human Gene Mutation Database (HGMD): VPS13A
    Human Genome Epidemiology (HuGE) Navigator: VPS13A (1 document)

    Export disorders and mutations for VPS13A gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/32 PubMed articles for VPS13A gene, integrated from 7 sources (see all 32):
    (articles sorted by number of sources associating them with VPS13A)
    1. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. (PubMed id 11381253)1, 2, 3 Rampoldi L....Monaco A.P. (2001)
    2. Analysis of the human VPS13 gene family. (PubMed id 15498460)1, 2, 7 Velayos-Baeza A....Monaco A.P. (2004)
    3. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. (PubMed id 11381254)1, 2, 7 Ueno S.... Sano A. (2001)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. 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)
    7. 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. (1999)
    8. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. (PubMed id 9382101)1, 3 Rubio J.P....Monaco A.P. (1997)
    9. Mutational spectrum of the CHAC gene in patients with chorea- acanthocytosis. (PubMed id 12404112)2, 7 Dobson-Stone C.... Monaco A.P. (2002)
    10. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. (PubMed id 17673232)1, 7 Ichiba M....Sano A. (2007)

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

    (According to HUGE)
    About This Section
    HUGE: KIAA0986

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VPS13A

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

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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