BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPNT2provided by HGNC
Official Full Name: 3'(2'), 5'-bisphosphate nucleotidase 2provided by HGNC
Primary source: HGNC:HGNC:26019
See related: Ensembl:ENSG00000104331 MIM:614010; AllianceGenome:HGNC:26019
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
Also known as: GPAPP; IMP 3; IMP-3; IMPA3; IMPAD1
Summary: This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in fat (RPKM 26.8), adrenal (RPKM 24.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (56957931..56993867, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (57335005..57370940, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (57870490..57906426, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA BC promotes lung adenocarcinoma progression by modulating IMPAD1 alternative splicing.
Title: LncRNA BC promotes lung adenocarcinoma progression by modulating IMPAD1 alternative splicing.
IMPAD1 functions as mitochondrial electron transport inhibitor that prevents ROS production and promotes lung cancer metastasis through the AMPK-Notch1-HEY1 pathway.
Title: IMPAD1 functions as mitochondrial electron transport inhibitor that prevents ROS production and promotes lung cancer metastasis through the AMPK-Notch1-HEY1 pathway.
concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features
Title: IMPAD1 mutations in two Catel-Manzke like patients.
Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP.
Title: Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

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
Chondrodysplasia with joint dislocations, gPAPP type MedGen: C3279757 OMIM: 614078 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

D15S1477 (e-PCR)
- UniSTS:474482

RH11930 (e-PCR)
- UniSTS:43895

RH36216 (e-PCR)
- UniSTS:33253

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'(2'),5'-bisphosphate nucleotidase activity	IEA Inferred from Electronic Annotation more info
enables 3',5'-nucleotide bisphosphate phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables 3'-nucleotidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase

Names: Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; IMPase 3; golgi-resident PAP phosphatase; golgi-resident nucleotide phosphatase; inositol monophosphatase domain containing 1; inositol monophosphatase domain-containing protein 1; inositol-1(or 4)-monophosphatase 3; myo-inositol monophosphatase A3; phosphoadenosine phosphate 3'-nucleotidase

NP_060283.3

EC 3.1.3.7

XP_047277873.1

EC 3.1.3.7

XP_054216707.1

EC 3.1.3.7

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

NG_031926.1 RefSeqGene

Range

5005..40941

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_017813.5 → NP_060283.3 Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase

See identical proteins and their annotated locations for NP_060283.3

Status: REVIEWED

Source sequence(s)

AC032027, AI095394, BC017797, BI601447

Consensus CDS

CCDS6169.1

UniProtKB/Swiss-Prot

Q6NVY7, Q9NX62

Related

ENSP00000262644.4, ENST00000262644.9

Conserved Domains (1) summary

cd01640
Location:66 → 349

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 also ...