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    NUDT9 nudix hydrolase 9 [ Homo sapiens (human) ]

    Gene ID: 53343, updated on 27-Nov-2024

    Summary

    Official Symbol
    NUDT9provided by HGNC
    Official Full Name
    nudix hydrolase 9provided by HGNC
    Primary source
    HGNC:HGNC:8056
    See related
    Ensembl:ENSG00000170502 MIM:606022; AllianceGenome:HGNC:8056
    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
    NUDT10
    Summary
    The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 6.8), prostate (RPKM 6.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NUDT9 in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87422573..87459455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90749045..90788493)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88343725..88380607)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene hydroxysteroid 17-beta dehydrogenase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88312635-88313207 Neighboring gene RNA, 7SL, cytoplasmic 681, pseudogene Neighboring gene mitochondrial ribosomal protein L19 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:88343613-88344547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88345091-88345594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88345595-88346096 Neighboring gene secretory calcium-binding phosphoprotein proline-glutamine rich 1 Neighboring gene SPARC like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88432037-88432537 Neighboring gene uncharacterized LOC124900729 Neighboring gene NANOG hESC enhancer GRCh37_chr4:88441567-88442068

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    • MGC3037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP-ribose diphosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables ADP-ribose diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ADP-sugar diphosphatase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ADP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleobase-containing small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ADP-ribose pyrophosphatase, mitochondrial
    Names
    ADP-ribose diphosphatase
    ADP-ribose phosphohydrolase
    ADP-ribose pyrosphosphatase NUDT9
    ADPR-PPase
    adenosine diphosphoribose pyrophosphatase
    nucleoside diphosphate linked moiety X-type motif 9
    nudix (nucleoside diphosphate linked moiety X)-type motif 9
    NP_001234940.1
    NP_076952.1
    NP_932155.1
    XP_011530334.1
    XP_054206165.1

    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_030358.1 RefSeqGene

      Range
      4998..41880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001248011.2NP_001234940.1  ADP-ribose pyrophosphatase, mitochondrial isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (c) missing an internal protein segment compared to isoform a.
      Source sequence(s)
      AC112250, AK027295, AK074845, AK308028, BP277630
      UniProtKB/TrEMBL
      Q96KB3
      Related
      ENSP00000410270.2, ENST00000440591.6
      Conserved Domains (1) summary
      cd03670
      Location:117303
      ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...
    2. NM_024047.5NP_076952.1  ADP-ribose pyrophosphatase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_076952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as NUDT9 alpha) represents the predominant transcript, and encodes the longest isoform (a). This isoform is localized in the mitochondria (PMID:12427752).
      Source sequence(s)
      AC112250, AK027295, AK074845, BP277630
      Consensus CDS
      CCDS3620.1
      UniProtKB/Swiss-Prot
      Q8NBN1, Q8NCB9, Q8NG25, Q9BW91
      UniProtKB/TrEMBL
      Q96KB3
      Related
      ENSP00000303575.4, ENST00000302174.9
      Conserved Domains (1) summary
      cd03670
      Location:149335
      ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...
    3. NM_198038.3NP_932155.1  ADP-ribose pyrophosphatase, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_932155.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as NUDT9 beta) contains an alternatively spliced 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (b) with a shorter N-terminus compared to isoform a. This isoform lacks the signal peptide and is not targeted to the mitochondria (PMID:12427752).
      Source sequence(s)
      AC112250, AF265341, AK074845
      Consensus CDS
      CCDS3621.1
      UniProtKB/TrEMBL
      Q8NG26
      Related
      ENSP00000421811.1, ENST00000473942.5
      Conserved Domains (1) summary
      cd03670
      Location:99285
      ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It 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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      87422573..87459455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532032.3XP_011530334.1  ADP-ribose pyrophosphatase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011530334.1

      UniProtKB/TrEMBL
      Q8NG26
      Conserved Domains (1) summary
      cd03670
      Location:99285
      ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

    RNA

    1. XR_007057928.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      90749045..90788493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350190.1XP_054206165.1  ADP-ribose pyrophosphatase, mitochondrial isoform X1

    RNA

    1. XR_008486993.1 RNA Sequence