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Aliases for BPNT1 Gene

Aliases for BPNT1 Gene

  • 3'(2'), 5'-Bisphosphate Nucleotidase 1 2
  • 3(2), 5-Bisphosphate Nucleotidase 1 2 3 5
  • Bisphosphate 3-Nucleotidase 1 3 4
  • EC 3.1.3.7 4 58
  • PIP 3 4
  • 3(2),5-Bisphosphate Nucleotidase 1 3
  • 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 58
  • BPntase 3
  • HEL20 3

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 Metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include magnesium ion binding and 3(2),5-bisphosphate nucleotidase activity. An important paralog of this gene is IMPAD1.

UniProtKB/Swiss-Prot 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.

Additional gene information for BPNT1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPNT1 Gene

Genomics for BPNT1 Gene

Regulatory Elements for BPNT1 Gene

Enhancers for BPNT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H220270 1.1 ENCODE 4.4 -181.7 -181731 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ZNF766 RPS15AP12 SNX2P1 RAB3GAP2 ZC3H11B BPNT1 AURKAPS1
GH01H220219 1.2 FANTOM5 ENCODE 1.8 -130.6 -130563 3 PKNOX1 TBL1XR1 SIN3A ATF7 ETV6 RUNX3 CREM IKZF2 SMARCA5 SMAD5 RAB3GAP2 BPNT1 EPRS ENSG00000270708 GC01P220248
GH01H220089 1.1 ENCODE 0.7 +0.6 559 1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 EPRS BPNT1 PIR35692
GH01H220086 0.7 ENCODE 0.7 +4.1 4119 0 HDGF CTCF ATF1 ZNF143 RUNX3 CREM SMARCA5 SMARCE1 NR2F1 TRIM22 BPNT1 PIR35692
GH01H220084 0.5 ENCODE 0.4 +5.6 5582 1 GATA3 CEBPA HLF HNF4A PPARG BPNT1 PIR35692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BPNT1 on UCSC Golden Path with GeneCards custom track

Promoters for BPNT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020366 762 1801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143

Genomic Location for BPNT1 Gene

Chromosome:
1
Start:
220,057,482 bp from pter
End:
220,090,462 bp from pter
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 posLast=4949
  • Modification sites at PhosphoSitePlus

Domains & Families for BPNT1 Gene

Gene Families for BPNT1 Gene

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

Graphical View of Domain Structure for InterPro Entry

O95861

UniProtKB/Swiss-Prot:

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

Function for BPNT1 Gene

Molecular function for BPNT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine 3,5-bisphosphate + H(2)O = adenosine 5-phosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Uncompetitive inhibition by micromolar concentrations of lithium. Competitive inhibition by inositol 1,4-bisphosphate.
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.

Enzyme Numbers (IUBMB) 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 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

Clone Products

  • Applied Biological Materials Clones for BPNT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3

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 --
GO:0070062 extracellular exosome IDA 23376485
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:0050427 3-phosphoadenosine 5-phosphosulfate metabolic process TAS --
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

(7) Drugs for BPNT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lithium Approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Zolpidem Approved Pharma Full agonist, Allosteric regulator 105
Adenosine monophosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
genes like me logo Genes that share compounds with BPNT1: view

Transcripts for BPNT1 Gene

Unigene Clusters for BPNT1 Gene

3(2), 5-bisphosphate nucleotidase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BPNT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
BPNT1

Expression for BPNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BPNT1 Gene



Protein tissue co-expression partners for BPNT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BPNT1 Gene:

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(4.3)
  • Muscle(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with BPNT1: view

Primer Products

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 33 34
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia BPNT1 33 34
  • 91.99 (n)
cow
(Bos Taurus)
Mammalia BPNT1 33 34
  • 90.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BPNT1 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bpnt1 33 16 34
  • 85.06 (n)
rat
(Rattus norvegicus)
Mammalia Bpnt1 33
  • 84.96 (n)
oppossum
(Monodelphis domestica)
Mammalia BPNT1 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves BPNT1 33 34
  • 77.02 (n)
lizard
(Anolis carolinensis)
Reptilia BPNT1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bpnt1 33
  • 74.13 (n)
Str.3809 33
zebrafish
(Danio rerio)
Actinopterygii bpnt1 33 34
  • 68.19 (n)
Dr.15386 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14199 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004654 33
  • 54.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7789 35 33 34
  • 52.98 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-231 33 34
  • 55.36 (n)
ZK430.2 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15563 33
Species where no ortholog for BPNT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for BPNT1 Gene

Paralogs for BPNT1 Gene

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

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

Variants for BPNT1 Gene

Sequence variations from dbSNP and Humsavar for BPNT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000014211 -- 220,072,629(+) TTTTA(A/G)ATAAC intron-variant
rs1000041751 -- 220,072,392(+) GGTTG(A/C)AGCCT intron-variant
rs1000176619 -- 220,087,419(+) GCTTG(A/G)TGGCA intron-variant
rs1000192372 -- 220,078,984(+) ATTTA(A/G)GTTTG intron-variant
rs1000385622 -- 220,065,131(+) TGCAG(C/T)TCTCC intron-variant

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)

Relevant External Links for BPNT1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPNT1 Gene

Disorders for BPNT1 Gene

Relevant External Links for BPNT1

Genetic Association Database (GAD)
BPNT1
Human Genome Epidemiology (HuGE) Navigator
BPNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BPNT1

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 22 60
  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 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for BPNT1 Gene

Sources for BPNT1 Gene

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