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

Gene ID: 3628, updated on 27-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
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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
  • 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)

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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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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