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ATP6AP1 Gene

protein-coding   GIFtS: 62
GCID: GC0XP153657

ATPase, H+ Transporting, Lysosomal Accessory Protein 1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: ATP6S1, ATP6IP1)
  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)
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Aliases
ATPase, H+ Transporting, Lysosomal Accessory Protein 11 2     V-ATPase S1 Accessory Protein2 3
ATP6IP11 2 3 5     V-ATPase Subunit S12 3
ATP6S11 2 3 5     16A2
VATPS12 3 5     Ac452
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Subunit 11 2     CF22
Protein XAP-32 3     XAP-32
Vacuolar Proton Pump Subunit S12 3     ATPase, H+ Transporting, Lysosomal Interacting Protein 12
XAP32 3     H-ATPase Subunit2
V-ATPase Ac45 Subunit2 3     V-Type Proton ATPase Subunit S12

External Ids:    HGNC: 8681   Entrez Gene: 5372   Ensembl: ENSG000000715537   OMIM: 3001975   UniProtKB: Q159043   

Export aliases for ATP6AP1 gene to outside databases

Previous GC identifers: GC0XP151242 GC0XP152124 GC0XP153177 GC0XP153310 GC0XP142234


(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 ATP6AP1 Gene:
This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular
organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a
transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes
as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may
assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a
role in early development. (provided by RefSeq, Aug 2013)

GeneCards Summary for ATP6AP1 Gene:
ATP6AP1 (ATPase, H+ transporting, lysosomal accessory protein 1) is a protein-coding gene. Diseases associated with ATP6AP1 include renal tubular acidosis, and hypokalemia. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and transporter activity. An important paralog of this gene is ATP6AP1L.

UniProtKB/Swiss-Prot: VAS1_HUMAN, Q15904
Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic
cells (By similarity)

Gene Wiki entry for ATP6AP1 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_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6AP1 gene promoter:
         AP-1   ATF-2   Nkx2-5   c-Jun   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6AP1 promoter sequence
   Search Chromatin IP Primers for ATP6AP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6AP1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

ATP6AP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6AP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153657:  view genomic region     (about GC identifiers)

Start:
153,656,978 bp from pter      End:
153,664,862 bp from pter
Size:
7,885 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: VAS1_HUMAN, Q15904 (See protein sequence)
Recommended Name: V-type proton ATPase subunit S1 precursor  
Size: 470 amino acids; 52026 Da
Subunit: Composed of at least 10 subunits
Sequence caution: Sequence=BAA03938.1; Type=Erroneous initiation;
Secondary accessions: A6ZKI4

Explore the universe of human proteins at neXtProt for ATP6AP1: NX_Q15904

Explore proteomics data for ATP6AP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys380
  • Glycosylation2 at Asn170, Thr184, Asn261, Asn273, Asn296, Asn303, Asn350, Asn357
  • Modification sites at PhosphoSitePlus

  • See ATP6AP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001174.2  
    ENSEMBL proteins: 
     ENSP00000358777   ENSP00000398511   ENSP00000392375   ENSP00000408317   ENSP00000411209  
     ENSP00000396643   ENSP00000408470  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024722 BIG/ATPase_V1_suS1
     IPR008388 ATPase_V1-cplx_s1su

    Graphical View of Domain Structure for InterPro Entry Q15904

    ProtoNet protein and cluster: Q15904

    1 Blocks protein domain: IPB008388 Vacuolar ATP synthase subunit S1

    UniProtKB/Swiss-Prot: VAS1_HUMAN, Q15904
    Similarity: Belongs to the vacuolar ATPase subunit S1 family


    ATP6AP1 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: VAS1_HUMAN, Q15904
    Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic
    cells (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8733135
    GO:0005524ATP binding IEA--
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP6AP1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ATP6AP1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A virus in  Decreased influenza A/WSN/33 r 
     Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Atp6ap1):
     mortality/aging 

    ATP6AP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp6ap1tm1Gjmm for ATP6AP1

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    miRNA
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    hsa-mir-26b-5p (MIRT030317), hsa-mir-1226-5p (MIRT036538), hsa-mir-15a-5p (MIRT051337), hsa-mir-455-3p (MIRT037865)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VAS1_HUMAN, Q15904: Vacuole membrane; Single-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005774vacuolar membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0016469proton-transporting two-sector ATPase complex TAS8733135
    GO:0033180proton-transporting V-type ATPase, V1 domain IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    ATP6AP1 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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    SuperPaths for ATP6AP1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    Oxidative phosphorylation0.51
    2Insulin receptor recycling
    Vibrio cholerae infection0.40
    Epithelial cell signaling in Helicobacter pylori infection0.32
    3Metabolism
    Metabolic pathways0.38
    4Toll-like receptor signaling pathway
    Hepatitis B0.31
    5Tuberculosis
    Tuberculosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATP6AP1
        Oxidative phosphorylation



    Selected Kegg Pathways  (Kegg details for ATP6AP1) (see all 9):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Vibrio cholerae infection


    ATP6AP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6AP1
    Interactions:

        Search GeneGlobe Interaction Network for ATP6AP1

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

    Selected Interacting proteins for ATP6AP1 (Q159043 ENSP000003587774) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699053, ENSP000003224214I2D: score=3 STRING: ENSP00000322421
    HBA2P699053, ENSP000002515954I2D: score=3 STRING: ENSP00000251595
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ANGP039503I2D: score=4 
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport TAS8733135

    ATP6AP1 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
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    Browse Tocris compounds for ATP6AP1 (VAS1)

    4 HMDB Compounds for ATP6AP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 Novoseek inferred chemical compound relationships for ATP6AP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bicarbonate 46.5 2 8933510 (1), 16736446 (1)
    potassium 23.1 2 17151195 (1)
    atp 15.8 1 9083109 (1)
    calcium 0 1 9083109 (1)



    ATP6AP1 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 ATP6AP1 gene: 
    NM_001183.5  

    Unigene Clusters for ATP6AP1:

    ATPase, H+ transporting, lysosomal accessory protein 1
    Hs.6551  [show with all ESTs], Hs.633817  [show with all ESTs]
    Unigene Representative Sequences: NM_001183, BU565556
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369762(uc004flf.1) ENST00000422890 ENST00000449556 ENST00000439372
    ENST00000446552 ENST00000455205(uc004flg.1) ENST00000429585 ENST00000491569(uc004flh.1)
    ENST00000484908
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    Additional mRNA sequence: 

    X74605.1 X87195.1 

    Selected DOTS entries (see all 58):

    DT.91926786  DT.419124  DT.95288900  DT.121294573  DT.100863143  DT.100863129  DT.121294551  DT.100863118 
    DT.100863116  DT.100863120  DT.121293887  DT.100863139  DT.121294589  DT.100763485  DT.121294456  DT.121293650 
    DT.121293985  DT.121294692  DT.100863137  DT.97788318  DT.100863133  DT.121294453  DT.97860391  DT.100863134 

    Selected AceView cDNA sequences (see all 335):

    CA392104 AA346890 AA335323 CB131445 CA395009 BU556514 BM452886 BQ712413 
    CA454760 BX461330 N44767 BM451707 BI518686 BP373376 BG702685 BM470809 
    BE407095 BI834532 BU173577 BG771775 CF131565 AL559537 BX357268 BI760132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                                -     -                                                         
    SP2:                                -     -                                                         
    SP3:                                      -                                                         
    SP4:                                -     -                 -     -     -     -                     
    SP5:                                                                                                


    ECgene alternative splicing isoforms for ATP6AP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP6AP1 expression in normal human tissues (normalized intensities)      ATP6AP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTGCTTGG
    ATP6AP1 Expression
    About this image


    ATP6AP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Kidney (Urinary System)
    ATP6AP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6AP1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.6551 Hs.633817

    UniProtKB/Swiss-Prot: VAS1_HUMAN, Q15904
    Tissue specificity: Ubiquitous

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATP6AP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6ap11 , 5 ATPase, H+ transporting, lysosomal accessory protein more1, 5 84.95(n)1
    87.47(a)1
      X (37.96 cM)5
    544111  NM_018794.41  NP_061264.11 
     742970975 
    chicken
    (Gallus gallus)
    Aves ATP6AP16
    V-type proton ATPase subunit S1 precursor
    36(a)
    1 ↔ 1
    1(22120622-22168143)
    lizard
    (Anolis carolinensis)
    Reptilia ATP6AP16
    ATPase, H+ transporting, lysosomal accessory prote...
    63(a)
    1 ↔ 1
    2(89828800-89843567)
    African clawed frog
    (Xenopus laevis)
    Amphibia X13112 glycoprotein 76.58(n)    X82421.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6ap12 ATPase, H+ transporting, lysosomal accessory protein more 71.79(n)   195824  AY099513.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaAC456
    Vacuolar H[+] ATPase accessory protein AC45
    19(a)
    1 → many
    2R(5095067-5097169)


    ENSEMBL Gene Tree for ATP6AP1 (if available)
    TreeFam Gene Tree for ATP6AP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6AP1 gene
    ATP6AP1L2  
    3 SIMAP similar genes for ATP6AP1 using alignment to 6 protein entries:     VAS1_HUMAN (see all proteins):
    DKFZp434B0535    FLJ00383    ATP6AP1L

    ATP6AP1 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 ATP6AP1 (see all 126)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875104891,2
    --153654996(+) GATCTC/TGGCTC 1 -- us2k10--------
    rs1926064151,2
    --153655397(+) TCAACC/TTTTGG 1 -- us2k10--------
    rs1493689571,2
    --153655424(+) TATCAC/TGACCT 1 -- us2k10--------
    rs1447875781,2
    --153655611(+) CAGCAA/GCAGAG 1 -- us2k10--------
    rs1833269541,2
    --153655800(+) TGGCCA/TCTTGG 1 -- us2k10--------
    rs1879385001,2
    --153655956(+) AGTCCC/TAGTCT 1 -- us2k10--------
    rs1922202511,2
    --153656129(+) ACTGGA/GACTAC 1 -- us2k10--------
    rs1849043671,2
    --153656393(+) GCCCAA/TTGTAA 1 -- us2k10--------
    rs1894017741,2
    --153656844(+) GAGCGG/TGAGCG 1 -- us2k10--------
    rs1916341281,2
    --153656853(+) CGCCTA/GGAGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6AP1 (153656978 - 153664862 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP6AP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6AP1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6AP1

    (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: 300197    OMIM disorders: --

    17 diseases for ATP6AP1:    About MalaCards
    renal tubular acidosis    hypokalemia    metabolic acidosis    rett syndrome
    bullous pemphigoid    labyrinthitis    measles    sjogren's syndrome
    cholera    cystic fibrosis    tuberculosis    rheumatoid arthritis
    arthritis    hiv-1    hepatitis b    cerebritis
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for ATP6AP1:
    Cystic fibrosis

    ATP6AP1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ATP6AP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypokalemia 56.5 3 1836966 (1), 10592934 (1)
    metabolic acidosis 42 2 1836966 (1)

    Genetic Association Database (GAD): ATP6AP1
    Human Genome Epidemiology (HuGE) Navigator: ATP6AP1 (3 documents)

    Export disorders for ATP6AP1 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 ATP6AP1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with ATP6AP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. (PubMed id 8733135)1, 2, 3 Chen E.Y....D'Urso M. (Hum. Mol. Genet. 1996)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection. (PubMed id 8034313)1, 2 Yokoi H.... Ikeda J. (Genomics 1994)
    6. Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. (PubMed id 8281148)1, 3 Sedlacek Z....Poustka A. (Hum. Mol. Genet. 1993)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Brain transcriptome-wide screen for HIV-1 Nef protein interaction partners reveals various membrane-associated proteins. (PubMed id 23284715)1 Kammula E.C....Willbold D. (PLoS ONE 2012)
    10. Viral immune modulators perturb the human molecular network by common and unique strategies. (PubMed id 22810585)1 Pichlmair A....Superti-Furga G. (Nature 2012)

    (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: 537 HGNC: 868 AceView: ATP6AP1 Ensembl:ENSG00000071553 euGenes: HUgn537
    ECgene: ATP6AP1 Kegg: 537 H-InvDB: ATP6AP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP6AP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP6AP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6AP1 gene:
    Search GeneIP for patents involving ATP6AP1

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



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