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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
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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

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