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NUDT12 nudix hydrolase 12 [ Homo sapiens (human) ]

Gene ID: 83594, updated on 5-Sep-2021

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
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
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Genomic context

See NUDT12 in Genome Data Viewer
Location:
5q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (103548855..103562805, complement)
105.20201022 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 PDZ and pleckstrin homology domains 1, pseudogene Neighboring gene long intergenic non-protein coding RNA 2115 Neighboring gene uncharacterized LOC105379107 Neighboring gene uncharacterized LOC101930276 Neighboring gene long intergenic non-protein coding RNA 2163 Neighboring gene RNA, U1 small nuclear 140, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
A genome-wide association study of depressive symptoms.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide association study of smoking behaviours in patients with COPD.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761I172

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD+ diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables NADH pyrophosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables NADH pyrophosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables NADH pyrophosphatase activity TAS
Traceable Author Statement
more info
 
enables RNA NAD-cap (NMN-forming) hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphodiesterase decapping endonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in NAD biosynthesis via nicotinamide riboside salvage pathway TAS
Traceable Author Statement
more info
 
involved_in NAD catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within NAD catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in NAD catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in NAD-cap decapping IDA
Inferred from Direct Assay
more info
PubMed 
involved_in NADH metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in NADP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within NADP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in NADP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
involved_in circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mRNA catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in methylguanosine-cap decapping IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
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

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_001300741.2NP_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:108437
    NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
    cd00204
    Location:1480
    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:305438
    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:130259
    NUDIX-like; NADH pyrophosphatase-like rudimentary NUDIX domain
    pfam09297
    Location:261284
    zf-NADH-PPase; NADH pyrophosphatase zinc ribbon domain
    pfam12796
    Location:1680
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_031438.4NP_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
    Q9BQG2
    UniProtKB/TrEMBL
    B4E1W3
    Related
    ENSP00000230792.2, ENST00000230792.7
    Conserved Domains (3) summary
    COG2816
    Location:126455
    NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
    cd00204
    Location:1498
    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:1443
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    103548855..103562805 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272097.3XP_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:108437
    NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
    cd00204
    Location:1480
    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:305438
    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:130259
    NUDIX-like; NADH pyrophosphatase-like rudimentary NUDIX domain
    pfam09297
    Location:261284
    zf-NADH-PPase; NADH pyrophosphatase zinc ribbon domain
    pfam12796
    Location:1680
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_005272095.1XP_005272152.1  NAD-capped RNA hydrolase NUDT12 isoform X1

    See identical proteins and their annotated locations for XP_005272152.1

    UniProtKB/Swiss-Prot
    Q9BQG2
    Conserved Domains (3) summary
    COG2816
    Location:126455
    NPY1; NADH pyrophosphatase NudC, Nudix superfamily [Nucleotide transport and metabolism]
    cd00204
    Location:1498
    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:1443
    ANK; ANK repeat [structural motif]
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