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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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