BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol sign... See more...

Aliases for BPNT1 Gene

Aliases for BPNT1 Gene

  • 3'(2'), 5'-Bisphosphate Nucleotidase 1 2 3 5
  • 3'(2'),5'-Bisphosphate Nucleotidase 1 3 4
  • Bisphosphate 3'-Nucleotidase 1 3 4
  • EC 3.1.3.7 4 51
  • PIP 3 4
  • Testicular Tissue Protein Li 29 3
  • Epididymis Luminal Protein 20 3
  • PAP-Inositol-1,4-Phosphatase 3
  • PAP-Inositol 1,4-Phosphatase 4
  • EC 3.1.3 51
  • BPntase 3
  • HEL20 3
  • BPNT1 5

External Ids for BPNT1 Gene

Previous GeneCards Identifiers for BPNT1 Gene

  • GC01M218827
  • GC01M216074
  • GC01M216777
  • GC01M217287
  • GC01M216619
  • GC01M218297
  • GC01M220230
  • GC01M190905

Summaries for BPNT1 Gene

Entrez Gene Summary for BPNT1 Gene

  • BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]

GeneCards Summary for BPNT1 Gene

BPNT1 (3'(2'), 5'-Bisphosphate Nucleotidase 1) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and 3'(2'),5'-bisphosphate nucleotidase activity. An important paralog of this gene is IMPA2.

UniProtKB/Swiss-Prot Summary for BPNT1 Gene

  • Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPNT1 Gene

Genomics for BPNT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BPNT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J220088 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.8 762 3 ARHGAP35 SP1 CREB1 GATAD2A HNRNPL TEAD4 PRDM10 REST ZNF629 TFE3 BPNT1 lnc-EPRS-2 RPS15AP12 ZC3H11B RIMKLBP2 EPRS1 RAB3GAP2 piR-57138-016
GH01J220270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.4 -181.2 -181174 3.7 RNF2 CREB1 TEAD4 PRDM10 ZNF629 TFE3 ZNF512 LEF1 IKZF1 ZNF692 RAB3GAP2 lnc-BPNT1-2 lnc-IARS2-5 RPS15AP12 SNX2P1 ZC3H11B BPNT1 AURKAP1 IARS2
GH01J220218 Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.6 -132.7 -132657 9 SP1 CTCF IKZF1 POLR2A BACH1 FOXA1 LARP7 RELA PKNOX1 ZNF24 RAB3GAP2 EPRS1 SNORA36B C1orf115 BPNT1 ENSG00000272823 ENSG00000270708 lnc-IARS2-3 piR-52368-011 lnc-BPNT1-2
GH01J220067 Enhancer 0.5 Ensembl 6.4 +22.8 22761 1 JUND CEBPB NFE2 FOS ATF3 JUN EPRS1 BPNT1 piR-49097-006 piR-57138-016 lnc-EPRS-2
GH01J220001 Enhancer 0.3 Ensembl 4.4 +88.9 88861 0.8 ZXDB JUN EPRS1 BPNT1 SNODB1267 RF00017-478 lnc-EPRS-1 SLC30A10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPNT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPNT1

Top Transcription factor binding sites by QIAGEN in the BPNT1 gene promoter:
  • Arnt
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-2
  • HEN1
  • Ik-3
  • POU2F1
  • POU2F1a

Genomic Locations for BPNT1 Gene

Genomic Locations for BPNT1 Gene
chr1:220,057,482-220,090,462
(GRCh38/hg38)
Size:
32,981 bases
Orientation:
Minus strand
chr1:220,230,824-220,263,804
(GRCh37/hg19)
Size:
32,981 bases
Orientation:
Minus strand

Genomic View for BPNT1 Gene

Genes around BPNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPNT1 Gene

Proteins for BPNT1 Gene

  • Protein details for BPNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95861-BPNT1_HUMAN
    Recommended name:
    3'(2'),5'-bisphosphate nucleotidase 1
    Protein Accession:
    O95861
    Secondary Accessions:
    • A8K7C8
    • B4DPS5
    • B4DUS9
    • D3DTA9
    • Q8WVL5
    • Q9UGJ3

    Protein attributes for BPNT1 Gene

    Size:
    308 amino acids
    Molecular mass:
    33392 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for BPNT1 Gene

    Alternative splice isoforms for BPNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPNT1 Gene

Selected DME Specific Peptides for BPNT1 Gene

O95861:
  • EEILKQPCPSQYSAIKEEDLVVWVDP
  • VLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVIL
  • VWVDPLD
  • AVGGKLTD

Post-translational modifications for BPNT1 Gene

  • Ubiquitination at Lys49
  • Modification sites at PhosphoSitePlus

Domains & Families for BPNT1 Gene

Gene Families for BPNT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BPNT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52203, highly similar to 3'(2'),5'-bisphosphate nucleotidase 1 (EC 3.1.3.7) (B4DPS5_HUMAN)
  • cDNA FLJ52417, highly similar to 3'(2'),5'-bisphosphate nucleotidase 1 (EC 3.1.3.7) (B4DUS9_HUMAN)
  • PAP-inositol-1,4-phosphatase (BPNT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95861

UniProtKB/Swiss-Prot:

BPNT1_HUMAN :
  • Belongs to the inositol monophosphatase superfamily.
Family:
  • Belongs to the inositol monophosphatase superfamily.
genes like me logo Genes that share domains with BPNT1: view

Function for BPNT1 Gene

Molecular function for BPNT1 Gene

UniProtKB/Swiss-Prot Function:
Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine 3',5'-bisphosphate + H2O = AMP + phosphate; Xref=Rhea:RHEA:10040, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58343, ChEBI:CHEBI:456215; EC=3.1.3.7;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Uncompetitive inhibition by micromolar concentrations of lithium. Competitive inhibition by inositol 1,4-bisphosphate.

Enzyme Numbers (IUBMB) for BPNT1 Gene

Phenotypes From GWAS Catalog for BPNT1 Gene

Gene Ontology (GO) - Molecular Function for BPNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008441 3'(2'),5'-bisphosphate nucleotidase activity IBA,TAS --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BPNT1: view
genes like me logo Genes that share phenotypes with BPNT1: view

Animal Models for BPNT1 Gene

MGI Knock Outs for BPNT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BPNT1

CRISPR Products

miRNA for BPNT1 Gene

miRTarBase miRNAs that target BPNT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPNT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BPNT1 Gene

Localization for BPNT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPNT1 gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BPNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BPNT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BPNT1 Gene

Pathways & Interactions for BPNT1 Gene

genes like me logo Genes that share pathways with BPNT1: view

Pathways by source for BPNT1 Gene

Gene Ontology (GO) - Biological Process for BPNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 10224133
GO:0007399 nervous system development TAS 10224133
GO:0016311 dephosphorylation IEA --
GO:0046854 phosphatidylinositol phosphorylation IEA --
GO:0046855 inositol phosphate dephosphorylation IEA --
genes like me logo Genes that share ontologies with BPNT1: view

No data available for SIGNOR curated interactions for BPNT1 Gene

Drugs & Compounds for BPNT1 Gene

(9) Drugs for BPNT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Zolpidem Approved Pharma Allosteric regulator, Full agonist 125
Adenosine monophosphate Approved, Investigational Nutra 0

(1) Additional Compounds for BPNT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with BPNT1: view

Transcripts for BPNT1 Gene

mRNA/cDNA for BPNT1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPNT1

Alternative Splicing Database (ASD) splice patterns (SP) for BPNT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2: -
SP3: -
SP4: - - -

Relevant External Links for BPNT1 Gene

GeneLoc Exon Structure for
BPNT1

Expression for BPNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPNT1 Gene

Protein differential expression in normal tissues from HIPED for BPNT1 Gene

This gene is overexpressed in Skin (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BPNT1 Gene



Protein tissue co-expression partners for BPNT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPNT1

SOURCE GeneReport for Unigene cluster for BPNT1 Gene:

Hs.406134

mRNA Expression by UniProt/SwissProt for BPNT1 Gene:

O95861-BPNT1_HUMAN
Tissue specificity: Highly expressed in kidney, liver, pancreas and heart. Detected at lower levels in brain, placenta, lung and skeletal muscle.

Evidence on tissue expression from TISSUES for BPNT1 Gene

  • Liver(4.4)
  • Muscle(4.2)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with BPNT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPNT1 Gene

Orthologs for BPNT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BPNT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BPNT1 30 31
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BPNT1 30 31
  • 91.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BPNT1 30 31
  • 90.04 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BPNT1 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Bpnt1 30 17 31
  • 85.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bpnt1 30
  • 84.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia BPNT1 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BPNT1 30 31
  • 77.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BPNT1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bpnt1 30
  • 74.13 (n)
Str.3809 30
Zebrafish
(Danio rerio)
Actinopterygii bpnt1 30 31
  • 68.19 (n)
OneToOne
Dr.15386 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14199 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004654 30
  • 54.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7789 30 31 32
  • 52.98 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea tag-231 30 31
  • 55.36 (n)
OneToOne
ZK430.2 32
  • 42 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.15563 30
Species where no ortholog for BPNT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BPNT1 Gene

ENSEMBL:
Gene Tree for BPNT1 (if available)
TreeFam:
Gene Tree for BPNT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPNT1: view image

Paralogs for BPNT1 Gene

Paralogs for BPNT1 Gene

(1) SIMAP similar genes for BPNT1 Gene using alignment to 8 proteins:

  • BPNT1_HUMAN
  • A6NF51_HUMAN
  • B4DPS5_HUMAN
  • B4DUS9_HUMAN
  • F8VRY7_HUMAN
  • F8VVW8_HUMAN
  • F8VZG4_HUMAN
  • F8W1J0_HUMAN
genes like me logo Genes that share paralogs with BPNT1: view

Variants for BPNT1 Gene

Additional dbSNP identifiers (rs#s) for BPNT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BPNT1 Gene

Variant ID Type Subtype PubMed ID
esv3588892 CNV loss 21293372
nsv1144433 CNV deletion 24896259
nsv4632 CNV insertion 18451855
nsv549222 CNV loss 21841781
nsv832636 CNV loss 17160897

Variation tolerance for BPNT1 Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPNT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPNT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPNT1 Gene

Disorders for BPNT1 Gene

Additional Disease Information for BPNT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for BPNT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BPNT1 Gene

Publications for BPNT1 Gene

  1. Cloning and characterization of a mammalian lithium-sensitive bisphosphate 3'-nucleotidase inhibited by inositol 1,4-bisphosphate. (PMID: 10224133) Spiegelberg BD … York JD (The Journal of biological chemistry 1999) 2 3 4 23
  2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Parkinson's disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes. (PMID: 31046837) Lee JH … Jou I (Acta neuropathologica communications 2019) 3

Products for BPNT1 Gene

Sources for BPNT1 Gene