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    ATP13A2 ATPase 13A2 [ Homo sapiens (human) ]

    Gene ID: 23400, updated on 14-Apr-2016
    Official Symbol
    ATP13A2provided by HGNC
    Official Full Name
    ATPase 13A2provided by HGNC
    Primary source
    HGNC:HGNC:30213
    See related
    Ensembl:ENSG00000159363 HPRD:13677; MIM:610513; Vega:OTTHUMG00000002293
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLN12; KRPPD; PARK9; HSA9947
    Summary
    This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
    Orthologs
    Location:
    1p36
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (16985958..17011972, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17312453..17338467, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 2 Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene uncharacterized LOC105376806 Neighboring gene microfibrillar associated protein 2 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B Neighboring gene peptidyl arginine deiminase 2 Neighboring gene uncharacterized LOC105376807

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Parkinson disease 9
    MedGen: C1847640 OMIM: 606693 GeneReviews: Parkinson Disease Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ26510

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cation-transporting ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cation-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    autophagosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cation transmembrane transport TAS
    Traceable Author Statement
    more info
     
    cellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular cation homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to manganese ion TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    peptidyl-aspartic acid autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of exosomal secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of autophagosome size IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multivesicular body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multivesicular body TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    probable cation-transporting ATPase 13A2
    Names
    ATPase type 13A2
    NP_001135445.1
    NP_001135446.1
    NP_071372.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009054.1 RefSeqGene

      Range
      5001..30971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001141973.2NP_001135445.1  probable cation-transporting ATPase 13A2 isoform 2

      See identical proteins and their annotated locations for NP_001135445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 2.
      Source sequence(s)
      AK290210, AL354615, BC030267, BC034575, HY024349
      Consensus CDS
      CCDS44073.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      UniProtKB/TrEMBL
      Q8N4D4
      Related
      ENSP00000413307, OTTHUMP00000221711, ENST00000452699, OTTHUMT00000368161
      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:258490
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39164
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623660
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391112
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    2. NM_001141974.2NP_001135446.1  probable cation-transporting ATPase 13A2 isoform 3

      See identical proteins and their annotated locations for NP_001135446.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks two alternate exons in the 3' coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 3.
      Source sequence(s)
      AK075310, BC030267, BC034575, HY024349
      Consensus CDS
      CCDS44072.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      UniProtKB/TrEMBL
      Q8N4D4, Q8NBS1
      Related
      ENSP00000341115, OTTHUMP00000002400, ENST00000341676, OTTHUMT00000006618
      Conserved Domains (5) summary
      COG4087
      Location:806855
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:258490
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39164
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623660
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391034
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    3. NM_022089.3NP_071372.1  probable cation-transporting ATPase 13A2 isoform 1

      See identical proteins and their annotated locations for NP_071372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 1.
      Source sequence(s)
      AL354615, BC030267, HY024349
      Consensus CDS
      CCDS175.1
      UniProtKB/Swiss-Prot
      Q9NQ11
      Related
      ENSP00000327214, OTTHUMP00000002399, ENST00000326735, OTTHUMT00000006617
      Conserved Domains (5) summary
      COG4087
      Location:850899
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:628665
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391117
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      16985958..17011972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710512.1XP_006710575.1  

      Conserved Domains (5) summary
      COG4087
      Location:844893
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:257489
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39163
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:622659
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391072
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    2. XM_006710513.1XP_006710576.1  

      Conserved Domains (5) summary
      COG4087
      Location:836885
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:249481
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39164
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:614651
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391064
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    3. XM_005245811.1XP_005245868.1  

      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:258490
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39164
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623660
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391073
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    4. XM_005245810.1XP_005245867.1  

      Conserved Domains (5) summary
      COG4087
      Location:849898
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:262494
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39168
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:627664
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391077
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    5. XM_005245812.1XP_005245869.1  

      Conserved Domains (5) summary
      COG4087
      Location:841890
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:254486
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:619656
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391069
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    6. XM_011541128.1XP_011539430.1  

      Conserved Domains (5) summary
      COG4087
      Location:845894
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:623660
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391073
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    7. XM_011541129.1XP_011539431.1  

      Conserved Domains (5) summary
      COG4087
      Location:781830
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:559596
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391009
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    8. XM_005245813.1XP_005245870.1  

      Conserved Domains (4) summary
      COG4087
      Location:830879
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      TIGR01657
      Location:391058
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    9. XM_005245815.1XP_005245872.1  

      Conserved Domains (5) summary
      COG4087
      Location:811860
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:628665
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391039
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    10. XM_005245809.1XP_005245866.1  

      Conserved Domains (5) summary
      COG4087
      Location:850899
      COG4087; Soluble P-type ATPase [General function prediction only]
      pfam00122
      Location:263495
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:39169
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:628665
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      TIGR01657
      Location:391078
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      17420791..17446805 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)