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    Inpp5a inositol polyphosphate-5-phosphatase A [ Mus musculus (house mouse) ]

    Gene ID: 212111, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Inpp5aprovided by MGI
    Official Full Name
    inositol polyphosphate-5-phosphatase Aprovided by MGI
    Primary source
    MGI:MGI:2686961
    See related
    Ensembl:ENSMUSG00000025477 AllianceGenome:MGI:2686961
    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
    Summary
    Enables inositol-polyphosphate 5-phosphatase activity. Involved in negative regulation of neuron death. Located in dendrite. Is expressed in several structures, including craniocervical region bone; gonad; limb; nervous system; and sensory organ. Orthologous to human INPP5A (inositol polyphosphate-5-phosphatase A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 45.3), cerebellum adult (RPKM 37.4) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 F4; 7 84.57 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (138969025..139159568)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (139389074..139579652)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20422 Neighboring gene predicted gene, 32571 Neighboring gene STARR-positive B cell enhancer mm9_chr7:146574741-146575042 Neighboring gene predicted gene, 46004 Neighboring gene STARR-seq mESC enhancer starr_20423 Neighboring gene predicted gene, 53346 Neighboring gene VISTA enhancer mm1683 Neighboring gene glycosylated lysosomal membrane protein pseudogene Neighboring gene STARR-seq mESC enhancer starr_20426 Neighboring gene STARR-seq mESC enhancer starr_20427 Neighboring gene predicted gene, 33031 Neighboring gene NK6 homeobox 2 Neighboring gene cilia and flagella associated protein 46 Neighboring gene STARR-positive B cell enhancer mm9_chr7:146833912-146834213 Neighboring gene STARR-seq mESC enhancer starr_20429 Neighboring gene NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder. Fernandez A, et al. Am J Med Genet A, 2021 Jun. PMID 33720513
    2. Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17. Liu Q, et al. Nat Commun, 2020 Feb 27. PMID 32107387, Free PMC Article
    3. Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice. Yang AW, et al. Neurogenetics, 2015 Oct. PMID 26051944
    4. Tulp3 Regulates Renal Cystogenesis by Trafficking of Cystoproteins to Cilia. Hwang SH, et al. Curr Biol, 2019 Mar 4. PMID 30799239, Free PMC Article
    5. Dual role of Fam208a during zygotic cleavage and early embryonic development. Gresakova V, et al. Exp Cell Res, 2021 Sep 15. PMID 34216590

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.
      Title: A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.
    2. Using SCA17 knock-in mice that endogenously express mutant TATA box-binding protein (TBP), study found that Inpp5a, a protein that is highly abundant in the cerebellum and functions as a terminator of the inositol 1,4,5-trisphosphate (IP3) second messenger, is downregulated. This was caused by the abnormal binding of mutant TBP to the transcription factor SP1, leading to reduced Inpp5a transcription.
      Title: Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (3) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PH domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-1,4,5-trisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-polyphosphate 5-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-polyphosphate 5-phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables inositol-polyphosphate 5-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    inositol polyphosphate-5-phosphatase A
    Names
    5PTase
    type I inositol 1,4,5-trisphosphate 5-phosphatase
    NP_001120835.1
    NP_001342091.1
    NP_898967.2
    XP_017177585.1
    XP_030098193.1

    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_001127363.1 → NP_001120835.1  inositol polyphosphate-5-phosphatase A isoform a

      See identical proteins and their annotated locations for NP_001120835.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      BC056341
      Consensus CDS
      CCDS52428.1
      UniProtKB/Swiss-Prot
      E9QAS7, Q7TNC9, Q8BNK3
      Related
      ENSMUSP00000101704.2, ENSMUST00000106098.8
      Conserved Domains (1) summary
      cd09092
      Location:10 → 394
      INPP5A; Type I inositol polyphosphate 5-phosphatase I

    2. NM_001355162.1 → NP_001342091.1  inositol polyphosphate-5-phosphatase A isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC112670, AC118735
      Consensus CDS
      CCDS90348.1
      UniProtKB/TrEMBL
      Q3TZT4
      Related
      ENSMUSP00000095589.3, ENSMUST00000097975.3
      Conserved Domains (1) summary
      cd09092
      Location:34 → 402
      INPP5A; Type I inositol polyphosphate 5-phosphatase I

    3. NM_183144.3 → NP_898967.2  inositol polyphosphate-5-phosphatase A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region that results in a frameshift compared to variant 1. The resulting protein (isoform b) is longer and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC056341
      Consensus CDS
      CCDS21954.1
      UniProtKB/TrEMBL
      E9QAS7, Q7TNC9
      Related
      ENSMUSP00000026550.8, ENSMUST00000026550.14
      Conserved Domains (1) summary
      cd09092
      Location:10 → 394
      INPP5A; Type I inositol polyphosphate 5-phosphatase I

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      138969025..139159568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242333.2 → XP_030098193.1  inositol polyphosphate-5-phosphatase A isoform X2

      Conserved Domains (1) summary
      cd09092
      Location:1 → 346
      INPP5A; Type I inositol polyphosphate 5-phosphatase I

    2. XM_017322096.2 → XP_017177585.1  inositol polyphosphate-5-phosphatase A isoform X1

      Conserved Domains (1) summary
      cd09092
      Location:24 → 394
      INPP5A; Type I inositol polyphosphate 5-phosphatase I
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TNC9.1 GenPept UniProtKB/Swiss-Prot:Q7TNC9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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