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

ATP13A3 Gene

protein-coding   GIFtS: 51
GCID: GC03M194123

ATPase type 13A3

 Explore 3 diseases affiliated with
ATP13A3 via our new
 Human Malady Compendium 
Biological research products
for ATP13A3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATPase Type 13A31 2     EC 3.6.3.-3
AFURS11 2 3     EC 3.6.38
ATPase Family Homolog Up-Regulated In Senescence Cells 12 3     EC 3.6.3.128
Probable Cation-Transporting ATPase 13A32     EC 3.6.3.N11

External Ids:    HGNC: 241131   Entrez Gene: 795722   Ensembl: ENSG000001336577   OMIM: 6102325   UniProtKB: Q9H7F03   

Export aliases for ATP13A3 gene to outside databases

Previous GC identifers: GC03M195606 GC03M191502


(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 ATP13A3:
ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other
P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).(supplied by OMIM, Aug 2008)

Gene Wiki entry for ATP13A3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_029928.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP13A3 gene promoter:
         Pax-5   Pbx1a   MyoD   C/EBPalpha   N-Myc   c-Rel   Ik-2   FOXO1a   Sox9   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ATP13A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP13A3


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

ATP13A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP13A3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M194123:  view genomic region     (about GC identifiers)

Start:
194,123,401 bp from pter      End:
194,219,093 bp from pter
Size:
95,693 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: AT133_HUMAN, Q9H7F0 (See protein sequence)
Recommended Name: Probable cation-transporting ATPase 13A3  
Size: 1226 amino acids; 138043 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=BAB14942.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14942.1; Type=Frameshift; Positions=1065; Sequence=BAC11398.1; Type=Erroneous initiation;
Secondary accessions: Q8NC11 Q96KS1
Alternative splicing: 2 isoforms:  Q9H7F0-1   Q9H7F0-2   (Dubious isoform produced through aberrant splice sites)

Explore the universe of human proteins at neXtProt for ATP13A3: NX_Q9H7F0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H7F0

  • 4/15 DME Specific Peptides for ATP13A3 (Q9H7F0) (see all 15)
     DKTGTLT  VPPALPA  DEYYYYA  VFARMAP 

    ATP13A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_078800.3  
    ENSEMBL proteins: 
     ENSP00000416508   ENSP00000402550   ENSP00000406234   ENSP00000410767   ENSP00000256031  

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    Uscn Proteins for ATP13A3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    ATP13A3 for ontologies           About GeneDecksing



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

    ATP13A3 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR023306 ATPase_cation_domN
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    Graphical View of Domain Structure for InterPro Entry Q9H7F0

    ProtoNet protein and cluster: Q9H7F0

    2 Blocks protein families:
    IPB001757 ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT133_HUMAN, Q9H7F0
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AT133_HUMAN, Q9H7F0
    Catalytic activity: ATP + H(2)O = ADP + phosphate

    Enzyme Numbers (IUBMB): EC 3.6.3.n12 EC 3.6.3.122 EC 3.6.32 EC 3.6.3.-1

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    hsa-miR-323-3p hsa-miR-100* hsa-miR-607 hsa-miR-300 hsa-miR-376b hsa-miR-15a hsa-miR-1245 hsa-miR-519a
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism IEA--
    GO:0046872metal ion binding IEA--


    ATP13A3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ATP13A3:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP13A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/23 Interacting proteins for ATP13A3 (Q9H7F03 ENSP000002560314) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG1Q9BT223I2D: score=1 
    AMD1P177073I2D: score=1 
    ARFGAP1Q8N6T33I2D: score=1 
    ATG13O751433I2D: score=1 
    CHAC2Q8WUX23I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport IEA--


    ATP13A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ATP13A3
    Search CenterWatch for drugs/clinical trials and news about ATP13A3 / AT133 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP13A3 gene: 
    NM_024524.3  

    Unigene Cluster for ATP13A3:

    ATPase type 13A3
    Hs.529609  [show with all ESTs]
    Unigene Representative Sequence: NM_024524
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439040(uc003ftx.4) ENST00000429136 ENST00000461660 ENST00000497567
    ENST00000484023 ENST00000485194 ENST00000492983 ENST00000457986 ENST00000446356
    ENST00000256031(uc003fty.4 uc003ftz.1)

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    8/83 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP13A3 (see all 83):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-607 hsa-miR-300 hsa-miR-376b hsa-miR-15a hsa-miR-1245 hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AK024639.1 AK075094.1 AK225064.1 BC037805.1 BC106085.1 BX641098.1 Z24724.1 

    16 DOTS entries:

    DT.91756609  DT.418012  DT.100027435  DT.120891538  DT.206524  DT.121643354  DT.120891595  DT.95150727 
    DT.100027434  DT.70100632  DT.100722542  DT.91756594  DT.97800424  DT.102820967  DT.120891542  DT.91693162 

    24/313 AceView cDNA sequences (see all 313):

    CK724869 AK024639 BM999919 BQ232107 BE501687 BQ953527 AA298222 H24883 
    BP337137 AA639643 R34075 AI373249 BF000669 BU156006 AW294012 AA844477 
    AA041539 AI656377 R77603 BX474014 AI738461 AI479305 BQ225555 T35984 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A3 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for ATP13A3

    (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

    ATP13A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATTTTGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATP13A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP13A3

    SOURCE GeneReport for Unigene cluster: Hs.529609
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    In Situ
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    (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 ATP13A3 gene from 6/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATP13A31 ATPase type 13A3 78.19(n)
    79.77(a)
      424898  XM_422709.3  XP_422709.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP13A36
    --
    --
    61(a)
    58(a)
    1 ↔ 1
    possible ortholog
    GL343538.1(417561-451093)
    GL343927.1(65605-129742)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01111935.16
    CABZ01055652.16
    --
    78(a)
    58(a)
    possible ortholog
    1 ↔ 1
    Zv9_NA495(1176-7181)
    11(34955004-34984427)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG320001 CG32000 51.36(n)
    43.52(a)
      317815  NM_001103379.1  NP_001096849.1 
    worm
    (Caenorhabditis elegans)
    Secernentea catp-61 Protein CATP-6 53.21(n)
    45.05(a)
      177822  NM_069354.4  NP_501755.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPK9(YOR291W)4
    YPK91
    Vacuolar protein with a possible role in sequestering more4
    Ypk9p1
    51.14(n)1
    41.48(a)1
      15(861175-865593)4
    8544661, 4  NP_014934.11, 4 


    ENSEMBL Gene Tree for ATP13A3 (if available)
    TreeFam Gene Tree for ATP13A3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP13A3 gene
    ATP13A52  ATP13A22  ATP13A42  
    3 SIMAP similar genes for ATP13A3 using alignment to 4 protein entries:     AT133_HUMAN (see all proteins):
    ATP13A4    ATP13A5    ATP13A2

    ATP13A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1182 NCBI SNPs in ATP13A3 are shown (see all 1182    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928296131,2
    --194122907(+) AACTTC/GAGCTA 1 -- int10--------
    rs1848272371,2
    --194122921(+) GCAGGC/TAGGCC 1 -- int10--------
    rs1889505061,2
    --194122937(+) CCCCCA/GAATTC 1 -- int10--------
    rs1157756781,2
    F,--194123002(+) CTGAGC/TTCCAT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs76095871,2
    C,F,A,H,--194123286(+) TTTTTT/AAAAAA 1 -- int13Minor allele frequency- A:0.50NA 8
    rs2002634201,2
    --194123286(+) TTTTT-/AAAAAA 1 -- int10--------
    rs98177601,2
    C,F,A,H,--194123287(+) TTTTTT/AAAAAA 1 -- int12Minor allele frequency- A:0.50NA 6
    rs762989061,2
    C,--194123288(+) TTTTAA/TAAAAA 1 -- int10--------
    rs1923035541,2
    --194123311(+) ATGGGG/TAAGTA 1 -- int10--------
    rs1848901131,2
    --194123552(+) AAATAC/TAAAGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP13A3 (194123401 - 194219093 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP13A3
         1 CNV: 51066

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP13A3 for disorders           About GeneDecksing

    OMIM gene information: 610232    OMIM disorders: --

    3 diseases for ATP13A3:    About MalaCards
    parkinson's disease    malaria    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ATP13A3 (3 documents)

    Export disorders for ATP13A3 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 ATP13A3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ATP13A3)
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    1. Cloning the AFURS1 gene which is up-regulated in senescent human parenchymal kidney cells. (PubMed id 11867234)1, 2, 3 Habtemichael N. and Kovacs G. (2002)
    2. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. 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)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79572 HGNC: 24113 AceView: AFURS1 Ensembl:ENSG00000133657 euGenes: HUgn79572
    ECgene: ATP13A3 H-InvDB: ATP13A3

    (According to HUGE)
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      --

    (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 ATP13A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP13A3 gene:
    Search GeneIP for patents involving ATP13A3

    GeneCards and IP:
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