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

    Gene ID: 54928, updated on 28-Oct-2024

    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
    NEW
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    Genomic context

    See BPNT2 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene impact RWD domain protein pseudogene Neighboring gene Sharpr-MPRA regulatory region 15011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27403 Neighboring gene RNA, U6 small nuclear 13, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:57934309-57935282 Neighboring gene NANOG hESC enhancer GRCh37_chr8:58020294-58020880 Neighboring gene RNA, 5S ribosomal pseudogene 266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58118103-58118604 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:58121391-58122590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58122972-58123472 Neighboring gene MPRA-validated peak7032 silencer Neighboring gene long intergenic non-protein coding RNA 1606

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20421

    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 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

    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
    XP_047277873.1
    XP_054216707.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_031926.1 RefSeqGene

      Range
      5005..40941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017813.5NP_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:66349
      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 ...

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      56957931..56993867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421917.1XP_047277873.1  Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      57335005..57370940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360732.1XP_054216707.1  Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase isoform X1