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    INPP1 inositol polyphosphate-1-phosphatase [ Homo sapiens (human) ]

    Gene ID: 3628, updated on 2-Nov-2024

    Summary

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    Official Symbol
    INPP1provided by HGNC
    Official Full Name
    inositol polyphosphate-1-phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:6071
    See related
    Ensembl:ENSG00000151689 MIM:147263; AllianceGenome:HGNC:6071
    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
    Summary
    This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 21.9), esophagus (RPKM 18.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INPP1 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190343589..190371665)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190824234..190861235)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191208315..191236391)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene myostatin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:191045543-191046342 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene nuclear envelope integral membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12179 Neighboring gene uncharacterized LOC124906136 Neighboring gene NEMP2 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase. York JD, et al. Proc Natl Acad Sci U S A, 1993 Jun 15. PMID 8390685, Free PMC Article
    2. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness. Steen VM, et al. Pharmacogenetics, 1998 Jun. PMID 9682271
    3. Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1). Løvlie R, et al. Pharmacogenetics, 1999 Aug. PMID 10780272
    4. Inositol phosphate recycling regulates glycolytic and lipid metabolism that drives cancer aggressiveness. Benjamin DI, et al. ACS Chem Biol, 2014 Jun 20. PMID 24738946, Free PMC Article
    5. Recent insights in phosphatidylinositol signaling. Majerus PW, et al. Cell, 1990 Nov 2. PMID 2225061

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We found the suicide-associated gene coexpression network. The reconstructed network consisted of 104 genes. Topological analysis showed that in total, CCK, INPP1, DDC, and NPY genes are the most fundamental hubs in the network
      Title: Integrated analysis of the genetic basis of suicidal behavior: what has been shown by structural genetic studies so far.
    2. High INPP1 expression is associated with cancer aggressiveness.
      Title: Inositol phosphate recycling regulates glycolytic and lipid metabolism that drives cancer aggressiveness.
    3. results suggest that genetic variability at rs669838-IMPA2,rs4853694-INPP1, rs1732170-GSK3b and rs11921360-GSK3b genes is associated with a higher risk of attempting suicide in bipolar patients.
      Title: Genetic variability at IMPA2, INPP1 and GSK3β increases the risk of suicidal behavior in bipolar patients.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: The pharmacogenetics of lithium response depends upon clinical co-morbidity.
    5. Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    7. Observational study of genotype prevalence, gene-disease association, and gene-gene interaction. (HuGE Navigator)
      Title: Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) and PPARgamma2 (P12A) polymorphisms.
    8. association study performed between the 5' regulatory region of the serotonin transporter gene (5-HTTLPR), the inositol polyphosphate 1-phosphatase gene (INPP1) and bipolar disorder using our sample of proband/parent trios
      Title: Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC110984

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inositol-1,3,4-trisphosphate 1-phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables inositol-1,4-bisphosphate 1-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-1,4-bisphosphate 1-phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphate-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphatidylinositol phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    inositol polyphosphate 1-phosphatase
    Names
    IPP
    IPPase
    NP_001122400.1
    NP_002185.1
    XP_024308643.1
    XP_047300148.1
    XP_047300149.1
    XP_047300150.1
    XP_047300151.1
    XP_047300152.1
    XP_054197802.1
    XP_054197803.1
    XP_054197804.1
    XP_054197805.1
    XP_054197806.1
    XP_054197807.1
    XP_054197808.1
    XP_054197809.1
    XP_054197810.1
    XP_054197811.1
    XP_054197812.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001128928.2 → NP_001122400.1  inositol polyphosphate 1-phosphatase

      See identical proteins and their annotated locations for NP_001122400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC092178, AI680695, AW015766, BQ100772, DA272809
      Consensus CDS
      CCDS2305.1
      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      B3KSH8, B5BU62, D3DPI6, Q6IBG4
      Related
      ENSP00000376142.2, ENST00000392329.7
      Conserved Domains (1) summary
      cd01640
      Location:4 → 387
      IPPase; IPPase; Inositol polyphosphate-1-phosphatase, a member of the Mg++ dependent family of inositol monophosphatase-like domains, hydrolyzes the 1' position phosphate from inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. Members in this group may ...

    2. NM_002194.4 → NP_002185.1  inositol polyphosphate 1-phosphatase

      See identical proteins and their annotated locations for NP_002185.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AI680695, AW015766, BC106006, BQ100772, DA272809
      Consensus CDS
      CCDS2305.1
      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      B3KSH8, B5BU62, D3DPI6, Q6IBG4
      Related
      ENSP00000325423.4, ENST00000322522.8
      Conserved Domains (1) summary
      cd01640
      Location:4 → 387
      IPPase; IPPase; Inositol polyphosphate-1-phosphatase, a member of the Mg++ dependent family of inositol monophosphatase-like domains, hydrolyzes the 1' position phosphate from inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. Members in this group may ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      190343589..190371665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444192.1 → XP_047300148.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    2. XM_047444195.1 → XP_047300151.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    3. XM_024452875.2 → XP_024308643.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      B3KSH8, B5BU62, D3DPI6, Q6IBG4
      Conserved Domains (1) summary
      cd01640
      Location:4 → 387
      IPPase; IPPase; Inositol polyphosphate-1-phosphatase, a member of the Mg++ dependent family of inositol monophosphatase-like domains, hydrolyzes the 1' position phosphate from inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. Members in this group may ...

    4. XM_047444194.1 → XP_047300150.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    5. XM_047444196.1 → XP_047300152.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    6. XM_047444193.1 → XP_047300149.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190824234..190861235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341832.1 → XP_054197807.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    2. XM_054341835.1 → XP_054197810.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    3. XM_054341830.1 → XP_054197805.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    4. XM_054341829.1 → XP_054197804.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    5. XM_054341831.1 → XP_054197806.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    6. XM_054341827.1 → XP_054197802.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    7. XM_054341836.1 → XP_054197811.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    8. XM_054341828.1 → XP_054197803.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    9. XM_054341834.1 → XP_054197809.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    10. XM_054341833.1 → XP_054197808.1  inositol polyphosphate 1-phosphatase isoform X1

      UniProtKB/Swiss-Prot
      P49441
      UniProtKB/TrEMBL
      D3DPI6, Q6IBG4

    11. XM_054341837.1 → XP_054197812.1  inositol polyphosphate 1-phosphatase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49441.1 GenPept UniProtKB/Swiss-Prot:P49441

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