U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    NUDT12 nudix hydrolase 12 [ Homo sapiens (human) ]

    Gene ID: 83594, updated on 10-Dec-2024

    Summary

    Official Symbol
    NUDT12provided by HGNC
    Official Full Name
    nudix hydrolase 12provided by HGNC
    Primary source
    HGNC:HGNC:18826
    See related
    Ensembl:ENSG00000112874 MIM:609232; AllianceGenome:HGNC:18826
    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
    Summary
    Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 12.0), thyroid (RPKM 10.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NUDT12 in Genome Data Viewer
    Location:
    5q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (103548855..103562789, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (104057169..104071102, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (102884556..102898490, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:102778681-102778899 Neighboring gene PDZ and pleckstrin homology domains 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22861 Neighboring gene long intergenic non-protein coding RNA 2115 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:102897730-102898262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:102898263-102898793 Neighboring gene NANOG hESC enhancer GRCh37_chr5:102908623-102909559 Neighboring gene uncharacterized LOC105379107 Neighboring gene uncharacterized LOC101930276 Neighboring gene MPRA-validated peak5381 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:103372498-103373042 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:103399302-103400266 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:103405398-103406312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:103415333-103415858 Neighboring gene RNA, U1 small nuclear 140, pseudogene Neighboring gene ncRNA involved in NHEJ oncogenic ligation efficiency

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (12 hits/1273 screens)

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    A genome-wide association study of depressive symptoms.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp761I172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ diphosphatase activity PubMed 
    enables NADH pyrophosphatase activity  
    enables NADH pyrophosphatase activity PubMed 
    enables NADH pyrophosphatase activity  
    enables NADPH pyrophosphatase activity  
    enables RNA NAD-cap (NMN-forming) hydrolase activity  
    enables magnesium ion binding  
    enables phosphodiesterase decapping endonuclease activity PubMed 
    enables protein binding PubMed 
    enables zinc ion binding  
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in nucleus  
    located_in peroxisomal matrix  
    is_active_in peroxisome  
    located_in peroxisome PubMed 

    General protein information

    Preferred Names
    NAD-capped RNA hydrolase NUDT12
    Names
    NADH pyrophosphatase NUDT12
    deNADding enzyme NUDT12
    nucleoside diphosphate linked moiety X-type motif 12
    nucleoside diphosphate-linked moiety X motif 12
    nudix (nucleoside diphosphate linked moiety X)-type motif 12
    nudix motif 12
    peroxisomal NADH pyrophosphatase NUDT12
    NP_001287670.1
    NP_113626.1
    XP_005272152.1
    XP_005272154.1
    XP_054209565.1
    XP_054209566.1

    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.

    mRNA and Protein(s)

    1. NM_001300741.2 → NP_001287670.1  NAD-capped RNA hydrolase NUDT12 isoform 2

      See identical proteins and their annotated locations for NP_001287670.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splcie site in the 5' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK304010, BC026748, DC417976
      Consensus CDS
      CCDS75284.1
      UniProtKB/Swiss-Prot
      Q9BQG2
      UniProtKB/TrEMBL
      B4E1W3, E7EM93
      Related
      ENSP00000424521.1, ENST00000507423.1
      Conserved Domains (6) summary
      COG2816
      Location:108 → 437
      NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
      cd00204
      Location:14 → 80
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd03429
      Location:305 → 438
      NADH_pyrophosphatase; NADH pyrophosphatase, a member of the Nudix hydrolase superfamily, catalyzes the cleavage of NADH into reduced nicotinamide mononucleotide (NMNH) and AMP. Like other members of the Nudix family, it requires a divalent cation, such as Mg2+ or Mn2+, for ...
      pfam09296
      Location:130 → 259
      NUDIX-like; NADH pyrophosphatase-like rudimentary NUDIX domain
      pfam09297
      Location:261 → 284
      zf-NADH-PPase; NADH pyrophosphatase zinc ribbon domain
      pfam12796
      Location:16 → 80
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_031438.4 → NP_113626.1  NAD-capped RNA hydrolase NUDT12 isoform 1

      See identical proteins and their annotated locations for NP_113626.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK304010, BC026748, BC041099, DB029218
      Consensus CDS
      CCDS4096.1
      UniProtKB/Swiss-Prot
      B3KUW2, B4E1W3, Q8TAL7, Q9BQG2
      Related
      ENSP00000230792.2, ENST00000230792.7
      Conserved Domains (3) summary
      COG2816
      Location:126 → 455
      NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
      cd00204
      Location:14 → 98
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:14 → 43
      ANK; ANK repeat [structural motif]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      103548855..103562789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272097.4 → XP_005272154.1  NAD-capped RNA hydrolase NUDT12 isoform X2

      See identical proteins and their annotated locations for XP_005272154.1

      UniProtKB/TrEMBL
      E7EM93
      Conserved Domains (6) summary
      COG2816
      Location:108 → 437
      NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
      cd00204
      Location:14 → 80
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd03429
      Location:305 → 438
      NADH_pyrophosphatase; NADH pyrophosphatase, a member of the Nudix hydrolase superfamily, catalyzes the cleavage of NADH into reduced nicotinamide mononucleotide (NMNH) and AMP. Like other members of the Nudix family, it requires a divalent cation, such as Mg2+ or Mn2+, for ...
      pfam09296
      Location:130 → 259
      NUDIX-like; NADH pyrophosphatase-like rudimentary NUDIX domain
      pfam09297
      Location:261 → 284
      zf-NADH-PPase; NADH pyrophosphatase zinc ribbon domain
      pfam12796
      Location:16 → 80
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_005272095.2 → XP_005272152.1  NAD-capped RNA hydrolase NUDT12 isoform X1

      See identical proteins and their annotated locations for XP_005272152.1

      UniProtKB/Swiss-Prot
      B3KUW2, B4E1W3, Q8TAL7, Q9BQG2
      Conserved Domains (3) summary
      COG2816
      Location:126 → 455
      NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
      cd00204
      Location:14 → 98
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:14 → 43
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      104057169..104071102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353591.1 → XP_054209566.1  NAD-capped RNA hydrolase NUDT12 isoform X2

    2. XM_054353590.1 → XP_054209565.1  NAD-capped RNA hydrolase NUDT12 isoform X1

    External link. Please review our privacy policy.