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    ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese dependent [ Homo sapiens (human) ]

    Gene ID: 56985, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ADPRMprovided by HGNC
    Official Full Name
    ADP-ribose/CDP-alcohol diphosphatase, manganese dependentprovided by HGNC
    Primary source
    HGNC:HGNC:30925
    See related
    Ensembl:ENSG00000170222 AllianceGenome:HGNC:30925
    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
    MDS006; C17orf48; NBLA03831
    Summary
    Predicted to enable 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity; manganese ion binding activity; and pyrophosphatase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.5), prostate (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10697594..10711558)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10605146..10619111)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10600911..10614875)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11732 Neighboring gene myosin heavy chain 3 Neighboring gene synthesis of cytochrome C oxidase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10599827-10600650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10600651-10601475 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10616259-10616459 Neighboring gene transmembrane protein 220 Neighboring gene mago homolog 2, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10632792-10633378 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10633379-10633965 Neighboring gene TMEM220 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10637362-10637547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10651975-10652524 Neighboring gene Sharpr-MPRA regulatory region 1671 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10701903-10702404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10702405-10702904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10707035-10707820 Neighboring gene transmembrane protein 238 like

    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. Molecular bases of catalysis and ADP-ribose preference of human Mn2+-dependent ADP-ribose/CDP-alcohol diphosphatase and conversion by mutagenesis to a preferential cyclic ADP-ribose phosphohydrolase. Cabezas A, et al. PLoS One, 2015. PMID 25692488, Free PMC Article
    2. Mn2+-dependent ADP-ribose/CDP-alcohol pyrophosphatase: a novel metallophosphoesterase family preferentially expressed in rodent immune cells. Canales J, et al. Biochem J, 2008 Jul 1. PMID 18352857
    3. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. Yeung ML, et al. J Biol Chem, 2009 Jul 17. PMID 19460752, Free PMC Article
    4. Mapping the Genetic Landscape of Human Cells. Horlbeck MA, et al. Cell, 2018 Aug 9. PMID 30033366, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results from homology modeling and simulation studies of docking and molecular dynamics revealed the structural and dynamic information on human ADPRibase-Mn with the catalytic sites.
      Title: Molecular bases of catalysis and ADP-ribose preference of human Mn2+-dependent ADP-ribose/CDP-alcohol diphosphatase and conversion by mutagenesis to a preferential cyclic ADP-ribose phosphohydrolase.
    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

    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 chromosome 17 open reading frame 48 (C17orf48) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ADP-ribose diphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CDP-glycerol diphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables manganese ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    manganese-dependent ADP-ribose/CDP-alcohol diphosphatase
    Names
    ADP-ribose/CDP-alcohol pyrophosphatase
    ADPRibase-Mn
    CDP-choline phosphohydrolase
    NP_064618.3

    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.

    mRNA and Protein(s)

    1. NM_020233.5 → NP_064618.3  manganese-dependent ADP-ribose/CDP-alcohol diphosphatase

      See identical proteins and their annotated locations for NP_064618.3

      Status: VALIDATED

      Source sequence(s)
      AB073393, AC002347, DA280275, DA305828
      Consensus CDS
      CCDS11159.2
      UniProtKB/Swiss-Prot
      A8K9B4, D3DTS4, Q3LIE5, Q9BVD4, Q9NRU8
      UniProtKB/TrEMBL
      W0NWJ0
      Related
      ENSP00000369099.4, ENST00000379774.5
      Conserved Domains (2) summary
      cd07396
      Location:18 → 322
      MPP_Nbla03831; Homo sapiens Nbla03831 and related proteins, metallophosphatase domain
      pfam00149
      Location:69 → 280
      Metallophos; Calcineurin-like phosphoesterase

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      10697594..10711558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      10605146..10619111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3LIE5.1 GenPept UniProtKB/Swiss-Prot:Q3LIE5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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