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ATP6AP1L Gene

protein-coding   GIFtS: 41
GCID: GC05P081612

ATPase, H+ Transporting, Lysosomal Accessory Protein 1-Like

  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 1-Like1 2
Vacuolar Proton Pump Subunit S1-Like Protein2 3
V-Type Proton ATPase Subunit S1-Like Protein2

External Ids:    HGNC: 280911   Entrez Gene: 922702   Ensembl: ENSG000002054647   UniProtKB: Q52LC23   

Export aliases for ATP6AP1L gene to outside databases

Previous GC identifer: GC05P076809


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATP6AP1L Gene:
ATP6AP1L (ATPase, H+ transporting, lysosomal accessory protein 1-like) is a protein-coding gene. Diseases associated with ATP6AP1L include eosinophilic esophagitis, and esophagitis. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6AP1.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6AP1L gene promoter:
         Elk-1   AML1a   SREBP-1c   Olf-1   SREBP-1b   MEF-2A   SREBP-1a   FOXJ2 (long isoform)   aMEF-2   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ATP6AP1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6AP1L


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

Entrez Gene cytogenetic band: 5q14.2   Ensembl cytogenetic band:  5q14.2   HGNC cytogenetic band: 5q14.2

ATP6AP1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6AP1L gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P081612:  view genomic region     (about GC identifiers)

Start:
81,575,281 bp from pter      End:
81,682,796 bp from pter
Size:
107,516 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: VAS1L_HUMAN, Q52LC2 (See protein sequence)
Recommended Name: V-type proton ATPase subunit S1-like protein  
Size: 224 amino acids; 25310 Da

Explore the universe of human proteins at neXtProt for ATP6AP1L: NX_Q52LC2

Explore proteomics data for ATP6AP1L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6AP1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001017971.1  
    ENSEMBL proteins: 
     ENSP00000369513   ENSP00000391381  

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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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    1 InterPro protein domain:
     IPR008388 ATPase_V1-cplx_s1su

    Graphical View of Domain Structure for InterPro Entry Q52LC2

    ProtoNet protein and cluster: Q52LC2

    UniProtKB/Swiss-Prot: VAS1L_HUMAN, Q52LC2
    Similarity: Belongs to the vacuolar ATPase subunit S1 family


    ATP6AP1L 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP6AP1L for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP6AP1L:
     Decreased Wnt reporter activit  Increased cell number in G1, a 

    Animal Models:
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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
    VAS1L_HUMAN, Q52LC2: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    mitochondrion2
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0033180proton-transporting V-type ATPase, V1 domain IEA--

    ATP6AP1L 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6AP1L
    Interactions:

        Search GeneGlobe Interaction Network for ATP6AP1L

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

    Selected Interacting proteins for ATP6AP1L (ENSP000003695134) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1ENSP000002820504STRING: ENSP00000282050
    ATP5BENSP000002620304STRING: ENSP00000262030
    ATP5C1ENSP000003491424STRING: ENSP00000349142
    ATP5DENSP000002153754STRING: ENSP00000215375
    ATP5EENSP000002439974STRING: ENSP00000243997
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    ATP6AP1L 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 ATP6AP1L (VAS1L)



    (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 ATP6AP1L gene: 
    NM_001017971.1  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380167(uc003khv.3 uc003khw.3) ENST00000508366 ENST00000514672
    ENST00000502523(uc010jat.1) ENST00000439350
    miRNA
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    Selected AceView cDNA sequences (see all 66):

    AA584127 BX104142 BQ788058 AA883786 BX115316 AI202269 AW086167 CA841215 
    BF437675 AK022625 AI452811 CA840957 BM821122 AI420460 CA432614 AU124970 
    AI263373 CA748860 BQ631322 AI249154 BM830207 BF111358 AI961979 AA701353 

    GeneLoc Exon Structure


    (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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    ATP6AP1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTACTCTG
    ATP6AP1L Expression
    About this image


    ATP6AP1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
    ATP6AP1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6AP1L Protein Expression
        Custom PCR Arrays for ATP6AP1L
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    In Situ
    Assay Products:
     

     
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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 ATP6AP1L gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6ap1l5 ATPase, H+ transporting, lysosomal accessory protein more   --   13 (46.45 cM) 90883433 
    chicken
    (Gallus gallus)
    Aves ATP6AP1L6
    ATPase, H+ transporting, lysosomal accessory prote...
    59(a)
    1 ↔ 1
    Z(63161777-63177731)
    lizard
    (Anolis carolinensis)
    Reptilia ATP6AP1L6
    ATPase, H+ transporting, lysosomal accessory prote...
    50(a)
    1 ↔ 1
    2(18042925-18052601)
    zebrafish
    (Danio rerio)
    Actinopterygii ATP6AP1L (2 of 2)6
    ATP6AP1L (1 of 2)6
    ATPase, H+ transporting, lysosomal accessory prote...
    ATPase, H+ transporting, lysosomal accessory prote...
    40(a)
    22(a)
    many → 1
    many → 1
    11(43612220-43618494) ENSDARG00000091509
    23(19847124-19872364) ENSDARG00000090963
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaAC456
    Vacuolar H[+] ATPase accessory protein AC45
    8(a)
    1 → many
    2R(5095067-5097169)


    ENSEMBL Gene Tree for ATP6AP1L (if available)
    TreeFam Gene Tree for ATP6AP1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6AP1L gene
    ATP6AP12  
    3 SIMAP similar genes for ATP6AP1L using alignment to 1 protein entry:     VAS1L_HUMAN:
    ATP6AP1    DKFZp434B0535    FLJ00383

    ATP6AP1L 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 ATP6AP1L (see all 279)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1931177491,2
    --81599257(+) AAATTA/GTGGAT 1 -- us2k10--------
    rs1835706851,2
    --81599262(+) ATGGAA/TATTTA 1 -- us2k10--------
    rs1885042161,2
    --81599349(+) ATGGTA/GAGACT 1 -- us2k10--------
    rs37566831,2
    C,F,H--81599474(+) CATCAT/CAAATT 1 -- us2k19Minor allele frequency- C:0.12NS EA WA CSA NA 780
    rs774475501,2
    C,F--81599500(+) CTCAAG/ACTTGA 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1916344551,2
    --81599544(+) ACATTA/GATAAA 1 -- us2k10--------
    rs1841481691,2
    --81599603(+) AATAAC/TGGAGA 1 -- us2k10--------
    rs1885553571,2
    --81599687(+) TCTAGC/GTCTAA 1 -- us2k10--------
    rs556888971,2
    C,F--81599713(+) ATTTCA/GATCAT 1 -- us2k15Minor allele frequency- G:0.13WA CSA NA EA 362
    rs1911215371,2
    --81599800(+) ACATAC/TTGTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6AP1L (81575281 - 81682796 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP6AP1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830364CNV Loss17160897
    nsv520938CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for ATP6AP1L:    
    About MalaCards
    eosinophilic esophagitis    esophagitis


    ATP6AP1L for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6AP1L

    Export disorders for ATP6AP1L 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 ATP6AP1L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ATP6AP1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. (PubMed id 20208534)4 Rothenberg M.E....Hakonarson H. (Nat. Genet. 2010)
    2. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (Hum. Mol. Genet. 2008)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92270 HGNC: 28091 AceView: LOC92270 Ensembl:ENSG00000205464 euGenes: HUgn92270
    ECgene: ATP6AP1L H-InvDB: ATP6AP1L

    (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 ATP6AP1L 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 ATP6AP1L gene:
    Search GeneIP for patents involving ATP6AP1L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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