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

Gene ID: 9562, updated on 5-Mar-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
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Genomic context

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Location:
10q23.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87504893..87553461)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88388490..88437056)
105.20220307 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
  • 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. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Appelhof B, et al. Eur J Hum Genet, 2021 Mar. PMID 33168985, Free PMC Article
  2. 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
  3. 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
  4. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Ucuncu E, et al. Nat Commun, 2020 Nov 30. PMID 33257696, Free PMC Article
  5. Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas. Gimm O, et al. J Clin Endocrinol Metab, 2001 Apr. PMID 11297621

See all (43) 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
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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_2023_10

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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