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    MINPP1 multiple inositol-polyphosphate phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 9562, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MINPP1provided by HGNC
    Official Full Name
    multiple inositol-polyphosphate phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:7102
    See related
    Ensembl:ENSG00000107789 MIM:605391; AllianceGenome:HGNC:7102
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIPP; PCH16; HIPER1; MINPP2
    Summary
    This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.4), adrenal (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MINPP1 in Genome Data Viewer
    Location:
    10q23.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87504893..87553461)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88388490..88437056)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89264650..89313218)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268063 Neighboring gene Sharpr-MPRA regulatory region 7232 Neighboring gene uncharacterized LOC112268064 Neighboring gene CRISPRi-validated cis-regulatory element chr10.3228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3708 Neighboring gene microRNA 4678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2582 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:89311461-89312660 Neighboring gene uncharacterized LOC105378412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3710 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:89386301-89387109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3711 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89398621-89399136 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89399137-89399651 Neighboring gene ribosomal protein S26 pseudogene 38

    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. Stable Isotopomers of myo-Inositol Uncover a Complex MINPP1-Dependent Inositol Phosphate Network. Nguyen Trung M, et al. ACS Cent Sci, 2022 Dec 28. PMID 36589890, Free PMC Article
    2. Tumour cells can employ extracellular Ins(1,2,3,4,5,6)P(6) and multiple inositol-polyphosphate phosphatase 1 (MINPP1) dephosphorylation to improve their proliferation. Windhorst S, et al. Biochem J, 2013 Feb 15. PMID 23186306
    3. Endoplasmic reticulum stress-induced apoptosis accompanies enhanced expression of multiple inositol polyphosphate phosphatase 1 (Minpp1): a possible role for Minpp1 in cellular stress response. Kilaparty SP, et al. Cell Stress Chaperones, 2016 Jul. PMID 27038811, Free PMC Article
    4. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Appelhof B, et al. Eur J Hum Genet, 2021 Mar. PMID 33168985, Free PMC Article
    5. HiPER1, a phosphatase of the endoplasmic reticulum with a role in chondrocyte maturation. Romano PR, et al. J Cell Sci, 1998 Mar. PMID 9472008

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
      Title: Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
    2. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
      Title: MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
    3. Minpp1 exhibits characteristics of a stress responsive molecule during Endoplasmic reticulum stress-induced apoptosis
      Title: Endoplasmic reticulum stress-induced apoptosis accompanies enhanced expression of multiple inositol polyphosphate phosphatase 1 (Minpp1): a possible role for Minpp1 in cellular stress response.
    4. By RNA knockdown, we identified secreted and lysosome targeted MINPP1 (multiple inositol-polyphosphate phosphatase 1), the mammalian 3-phytase, to be essentially involved both in extracellular and in lysosomal InsP6 dephosphorylation
      Title: Tumour cells can employ extracellular Ins(1,2,3,4,5,6)P(6) and multiple inositol-polyphosphate phosphatase 1 (MINPP1) dephosphorylation to improve their proliferation.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Validation of genome-wide prostate cancer associations in men of African descent.
    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

    Associated conditions

    Description Tests
    Pontocerebellar hypoplasia, type 16
    MedGen: C5561987 OMIM: 619527 GeneReviews: Not available
    		not available
    Thyroid cancer, nonmedullary, 2
    MedGen: C4225426 OMIM: 188470 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of multiple inositol-polyphosphate phosphatase 1 (MINPP1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • DKFZp564L2016

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phytase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 4-phytase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acid phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables bisphosphoglycerate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol bisphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol hexakisphosphate 2-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables inositol pentakisphosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables inositol phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol phosphate phosphatase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables inositol trisphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    NOT enables inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables inositol-1,4,5,6-tetrakisphosphate 6-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-hexakisphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol-hexakisphosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bone mineralization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    acts_upstream_of intracellular monoatomic cation homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ossification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    multiple inositol polyphosphate phosphatase 1
    Names
    2,3-BPG phosphatase
    2,3-bisphosphoglycerate 3-phosphatase
    inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase
    ins(1,3,4,5)P(4) 3-phosphatase
    multiple inositol polyphosphate histidine phosphatase, 1
    multiple inositol polyphosphate phosphatase 2
    NP_001171588.1
    NP_001171589.1
    NP_004888.2
    XP_006718141.1
    XP_011538681.1
    XP_016872454.1
    XP_054223196.1
    XP_054223197.1
    XP_054223198.1

    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.

    Genomic

    1. NG_013023.1 RefSeqGene

      Range
      5428..53996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178117.2 → NP_001171588.1  multiple inositol polyphosphate phosphatase 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171588.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF084944, AL355334, AW243689
      Consensus CDS
      CCDS53551.1
      UniProtKB/Swiss-Prot
      Q9UNW1
      Related
      ENSP00000361062.4, ENST00000371994.8
      Conserved Domains (1) summary
      cl11399
      Location:82 → 278
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

    2. NM_001178118.2 → NP_001171589.1  multiple inositol polyphosphate phosphatase 1 isoform 3

      See identical proteins and their annotated locations for NP_001171589.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK309176, AL355334, AW243689, BC032504
      Consensus CDS
      CCDS53552.1
      UniProtKB/Swiss-Prot
      Q9UNW1
      Related
      ENSP00000437823.1, ENST00000536010.1
      Conserved Domains (1) summary
      cd07061
      Location:78 → 235
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    3. NM_004897.5 → NP_004888.2  multiple inositol polyphosphate phosphatase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004888.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL355334, AW243689, BC032504
      Consensus CDS
      CCDS7384.1
      UniProtKB/Swiss-Prot
      F5H683, O95172, O95286, Q59EJ2, Q9UGA3, Q9UNW1
      UniProtKB/TrEMBL
      B2R7D2
      Related
      ENSP00000361064.4, ENST00000371996.9
      Conserved Domains (1) summary
      cd07061
      Location:82 → 436
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      87504893..87553461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540379.4 → XP_011538681.1  multiple inositol polyphosphate phosphatase 1 isoform X3

      See identical proteins and their annotated locations for XP_011538681.1

      UniProtKB/Swiss-Prot
      Q9UNW1
      Conserved Domains (1) summary
      cd07061
      Location:78 → 235
      HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

    2. XM_006718078.4 → XP_006718141.1  multiple inositol polyphosphate phosphatase 1 isoform X1

      Conserved Domains (1) summary
      cl11399
      Location:82 → 310
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

    3. XM_017016965.3 → XP_016872454.1  multiple inositol polyphosphate phosphatase 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      88388490..88437056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367223.1 → XP_054223198.1  multiple inositol polyphosphate phosphatase 1 isoform X3

    2. XM_054367221.1 → XP_054223196.1  multiple inositol polyphosphate phosphatase 1 isoform X1

    3. XM_054367222.1 → XP_054223197.1  multiple inositol polyphosphate phosphatase 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNW1.1 GenPept UniProtKB/Swiss-Prot:Q9UNW1

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