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    Atp13a2 ATPase type 13A2 [ Mus musculus (house mouse) ]

    Gene ID: 74772, updated on 4-Jan-2025

    Summary

    Official Symbol
    Atp13a2provided by MGI
    Official Full Name
    ATPase type 13A2provided by MGI
    Primary source
    MGI:MGI:1922022
    See related
    Ensembl:ENSMUSG00000036622 AllianceGenome:MGI:1922022
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110012E06Rik
    Summary
    Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity; phospholipid binding activity; and polyamine transmembrane transporter activity. Involved in several processes, including autophagosome-lysosome fusion; positive regulation of exosomal secretion; and regulation of glucosylceramidase activity. Located in neuron projection; neuronal cell body; and vesicle membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study Kufor-Rakeb syndrome. Human ortholog(s) of this gene implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia 78. Orthologous to human ATP13A2 (ATPase cation transporting 13A2). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in spleen adult (RPKM 76.5), ovary adult (RPKM 68.9) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Atp13a2 in Genome Data Viewer
    Location:
    4 D3; 4 73.29 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (140711812..140734641)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (140986216..141007330)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene peptidyl arginine deiminase, type II Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:140508500-140508683 Neighboring gene predicted gene 13031 Neighboring gene STARR-seq mESC enhancer starr_11883 Neighboring gene STARR-positive B cell enhancer ABC_E10271 Neighboring gene succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Neighboring gene STARR-positive B cell enhancer ABC_E6248 Neighboring gene microfibrillar-associated protein 2 Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene STARR-seq mESC enhancer starr_11885

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ABC-type polyamine transporter activity  
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATPase-coupled monoatomic cation transmembrane transporter activity  
    enables ATPase-coupled monoatomic cation transmembrane transporter activity  
    enables P-type ion transporter activity  
    enables metal ion binding  
    enables phosphatidic acid binding  
    enables phosphatidic acid binding  
    enables phosphatidylinositol-3,5-bisphosphate binding  
    enables phosphatidylinositol-3,5-bisphosphate binding  
    enables polyamine transmembrane transporter activity  
    enables polyamine transmembrane transporter activity  
    enables polyamine transmembrane transporter activity  
    Items 1 - 25 of 54
    Process Evidence Code Pubs
    involved_in autophagosome organization  
    involved_in autophagosome-lysosome fusion  
    involved_in autophagosome-lysosome fusion PubMed 
    involved_in autophagosome-lysosome fusion  
    involved_in autophagy PubMed 
    involved_in autophagy  
    involved_in cellular response to manganese ion  
    involved_in cellular response to manganese ion  
    involved_in cellular response to oxidative stress PubMed 
    involved_in cellular response to oxidative stress  
    involved_in extracellular exosome biogenesis  
    involved_in extracellular exosome biogenesis  
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular iron ion homeostasis  
    involved_in intracellular iron ion homeostasis  
    involved_in intracellular zinc ion homeostasis PubMed 
    involved_in intracellular zinc ion homeostasis  
    involved_in lipid homeostasis  
    involved_in lipid homeostasis  
    involved_in lysosomal transport  
    involved_in lysosomal transport  
    involved_in monoatomic cation transmembrane transport  
    involved_in peptidyl-aspartic acid autophosphorylation  
    involved_in polyamine transmembrane transport  
    involved_in polyamine transmembrane transport  
    involved_in positive regulation of exosomal secretion PubMed 
    involved_in positive regulation of exosomal secretion  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of protein secretion  
    involved_in positive regulation of protein secretion  
    involved_in protein localization to lysosome PubMed 
    involved_in protein localization to lysosome  
    involved_in regulation of autophagosome size  
    involved_in regulation of autophagosome size  
    involved_in regulation of autophagosome size  
    involved_in regulation of endopeptidase activity  
    involved_in regulation of glucosylceramidase activity PubMed 
    involved_in regulation of intracellular protein transport PubMed 
    involved_in regulation of lysosomal protein catabolic process PubMed 
    involved_in regulation of lysosomal protein catabolic process  
    involved_in regulation of macroautophagy  
    involved_in regulation of macroautophagy  
    involved_in regulation of mitochondrion organization  
    involved_in regulation of mitochondrion organization PubMed 
    involved_in regulation of mitochondrion organization  
    involved_in regulation of protein localization to nucleus PubMed 
    involved_in regulation of protein localization to nucleus  
    involved_in regulation of ubiquitin-specific protease activity  
    involved_in regulation of ubiquitin-specific protease activity  
    involved_in spermine transmembrane transport  
    involved_in spermine transmembrane transport  
    Items 1 - 25 of 54
    Component Evidence Code Pubs
    located_in autophagosome  
    located_in autophagosome membrane  
    located_in late endosome  
    is_active_in late endosome membrane  
    located_in late endosome membrane  
    located_in late endosome membrane  
    located_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosome  
    located_in lysosome  
    located_in multivesicular body  
    located_in multivesicular body membrane  
    located_in neuron projection PubMed 
    located_in neuron projection  
    located_in neuronal cell body PubMed 
    located_in neuronal cell body  
    located_in transport vesicle  
    located_in transport vesicle  
    located_in vesicle  
    located_in vesicle membrane PubMed 

    General protein information

    Preferred Names
    polyamine-transporting ATPase 13A2
    Names
    cation-transporting ATPase 13A2
    probable cation-transporting ATPase 13A2
    NP_001157838.1
    NP_001366548.1
    NP_001366549.1
    NP_001366550.1
    NP_001366551.1
    NP_083373.2
    XP_006539299.1
    XP_006539300.1
    XP_036020402.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001164366.2NP_001157838.1  polyamine-transporting ATPase 13A2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL645625
      Consensus CDS
      CCDS51345.1
      UniProtKB/TrEMBL
      E9Q2A4
      Related
      ENSMUSP00000132183.2, ENSMUST00000127833.3
      Conserved Domains (6) summary
      COG4087
      Location:839888
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:351067
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:258493
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:35161
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:621658
      Cation_ATPase; Cation transport ATPase (P-type)
      cl02930
      Location:188260
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    2. NM_001379619.1NP_001366548.1  polyamine-transporting ATPase 13A2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL645625
      Conserved Domains (1) summary
      TIGR01657
      Location:351111
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    3. NM_001379620.1NP_001366549.1  polyamine-transporting ATPase 13A2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL645625
      Conserved Domains (1) summary
      TIGR01657
      Location:351066
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    4. NM_001379621.1NP_001366550.1  polyamine-transporting ATPase 13A2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL645625
      UniProtKB/TrEMBL
      E9PYX5
      Conserved Domains (1) summary
      TIGR01657
      Location:35941
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    5. NM_001379622.1NP_001366551.1  polyamine-transporting ATPase 13A2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL645625
      UniProtKB/TrEMBL
      E9PYX5
      Related
      ENSMUSP00000126461.2, ENSMUST00000168047.8
      Conserved Domains (1) summary
      TIGR01657
      Location:35942
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    6. NM_029097.3NP_083373.2  polyamine-transporting ATPase 13A2 isoform 1

      See identical proteins and their annotated locations for NP_083373.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL645625
      Consensus CDS
      CCDS18859.1
      UniProtKB/Swiss-Prot
      A2AA78, Q8CG98, Q9CTG6
      Related
      ENSMUSP00000039648.8, ENSMUST00000037055.14
      Conserved Domains (6) summary
      COG4087
      Location:839888
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:351112
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:258493
      E1-E2_ATPase; E1-E2 ATPase
      pfam12409
      Location:35161
      P5-ATPase; P5-type ATPase cation transporter
      pfam13246
      Location:621658
      Cation_ATPase; Cation transport ATPase (P-type)
      cl02930
      Location:188260
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      140711812..140734641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164509.1XP_036020402.1  polyamine-transporting ATPase 13A2 isoform X3

      Conserved Domains (1) summary
      TIGR01657
      Location:351118
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    2. XM_006539236.3XP_006539299.1  polyamine-transporting ATPase 13A2 isoform X1

      Conserved Domains (1) summary
      TIGR01657
      Location:351195
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    3. XM_006539237.3XP_006539300.1  polyamine-transporting ATPase 13A2 isoform X2

      UniProtKB/TrEMBL
      E9PYX5
      Conserved Domains (1) summary
      TIGR01657
      Location:351150
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
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