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] See more...

Aliases for NUDT12 Gene

Aliases for NUDT12 Gene

  • Nudix Hydrolase 12 2 3 5
  • Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 12 2 3
  • Nucleoside Diphosphate Linked Moiety X-Type Motif 12 2 3
  • Nucleoside Diphosphate-Linked Moiety X Motif 12 3 4
  • Peroxisomal NADH Pyrophosphatase NUDT12 3 4
  • Nudix Motif 12 3 4
  • EC 3.6.1.22 4 52

External Ids for NUDT12 Gene

Previous GeneCards Identifiers for NUDT12 Gene

  • GC05M102544
  • GC05M103315
  • GC05M102915
  • GC05M102960
  • GC05M102912
  • GC05M098066
  • GC05M102884

Summaries for NUDT12 Gene

Entrez Gene Summary for NUDT12 Gene

  • 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]

GeneCards Summary for NUDT12 Gene

NUDT12 (Nudix Hydrolase 12) is a Protein Coding gene. Among its related pathways are NAD metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include hydrolase activity and NAD+ diphosphatase activity. An important paralog of this gene is NUDT17.

UniProtKB/Swiss-Prot Summary for NUDT12 Gene

  • Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.

Gene Wiki entry for NUDT12 Gene

Additional gene information for NUDT12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUDT12 Gene

Genomics for NUDT12 Gene

GeneHancer (GH) Regulatory Elements for NUDT12 Gene

Promoters and enhancers for NUDT12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J103561 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 527.9 +0.3 304 2.2 ZBTB40 ZNF217 NRF1 POLR2G SIX5 ZFX ZIC2 POLR2A ZBTB11 AFF1 NUDT12 lnc-GIN1-6 lnc-GIN1-5 lnc-C5orf30-10
GH05J103531 Enhancer 0.4 ENCODE 26.3 +30.3 30339 1.4 ATF2 FOS STAT3 piR-44110-065 piR-50968-103 NUDT12 PDZPH1P LINC02115 lnc-C5orf30-10
GH05J103525 Enhancer 0.3 Ensembl 25.9 +37.0 37003 0.8 NR2F2 HMBOX1 PDZPH1P NUDT12 lnc-C5orf30-10
GH05J103522 Enhancer 0.7 Ensembl ENCODE 12.2 +39.6 39620 2.2 KLF9 FOXA2 NR2F1 NR2F6 NR2C1 FOXA1 GABPA TFE3 NR2C2 NUDT12 PDZPH1P lnc-C5orf30-10
GH05J103466 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.3 +95.5 95503 3 EP300 FOS CEBPB USF1 JUND STAT1 STAT3 TCF7L2 NFE2L2 ENSG00000248203 NUDT12 lnc-NUDT12-8 lnc-C5orf30-10 PDZPH1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUDT12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUDT12

Top Transcription factor binding sites by QIAGEN in the NUDT12 gene promoter:
  • Bach2
  • Cdc5
  • FOXC1
  • LCR-F1
  • NRF-2
  • POU2F1c
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for NUDT12 Gene

Genomic Locations for NUDT12 Gene
chr5:103,548,855-103,562,804
(GRCh38/hg38)
Size:
13,950 bases
Orientation:
Minus strand
chr5:102,884,556-102,898,494
(GRCh37/hg19)
Size:
13,939 bases
Orientation:
Minus strand

Genomic View for NUDT12 Gene

Genes around NUDT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUDT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUDT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUDT12 Gene

Proteins for NUDT12 Gene

  • Protein details for NUDT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQG2-NUD12_HUMAN
    Recommended name:
    Peroxisomal NADH pyrophosphatase NUDT12
    Protein Accession:
    Q9BQG2
    Secondary Accessions:
    • B3KUW2
    • B4E1W3
    • Q8TAL7

    Protein attributes for NUDT12 Gene

    Size:
    462 amino acids
    Molecular mass:
    52076 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NUDT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUDT12 Gene

Selected DME Specific Peptides for NUDT12 Gene

Q9BQG2:
  • KRNNSDWL
  • YLAQPEKITL
  • QQPEVRLCQLNY
  • EEEDGLV
  • RQTALDIA
  • EIEDARWF
  • ILSHSPSLLNETSENGW
  • CLAGFIEPGE
  • DKNEIED
  • VQFLLEKGCDRS
  • FWGYKHIANLLA
  • AKGGKKPWFLTNEV
  • DIKDYLAQPE
  • YPRVDPVVIM
  • SAAEGDIAKLT
  • ECENYFS
  • DVLTKGKQQAFFVPPSRAIAHQLIKHW
  • CQPWPMPSSLMIGCLA

Post-translational modifications for NUDT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NUDT12 Gene

Domains & Families for NUDT12 Gene

Gene Families for NUDT12 Gene

Protein Domains for NUDT12 Gene

Suggested Antigen Peptide Sequences for NUDT12 Gene

GenScript: Design optimal peptide antigens:
  • Nucleoside diphosphate-linked moiety X motif 12 (NUD12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQG2

UniProtKB/Swiss-Prot:

NUD12_HUMAN :
  • Belongs to the Nudix hydrolase family. NudC subfamily.
Family:
  • Belongs to the Nudix hydrolase family. NudC subfamily.
genes like me logo Genes that share domains with NUDT12: view

Function for NUDT12 Gene

Molecular function for NUDT12 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) = AMP + beta-nicotinamide D-ribonucleotide + 2 H(+); Xref=Rhea:RHEA:11800, ChEBI:CHEBI:14649, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:456215; EC=3.6.1.22; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11801; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NADH = AMP + 2 H(+) + reduced beta-nicotinamide D-ribonucleotide; Xref=Rhea:RHEA:48868, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57945, ChEBI:CHEBI:90832, ChEBI:CHEBI:456215; EC=3.6.1.22; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48869; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11 uM for NADH {ECO:0000269 PubMed:12790796}; KM=16 uM for NADPH {ECO:0000269 PubMed:12790796}; KM=190 uM for NAD {ECO:0000269 PubMed:12790796}; pH dependence: Optimum pH is 8-9. {ECO:0000269 PubMed:12790796};

Enzyme Numbers (IUBMB) for NUDT12 Gene

Phenotypes From GWAS Catalog for NUDT12 Gene

Gene Ontology (GO) - Molecular Function for NUDT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000210 NAD+ diphosphatase activity IDA 12790796
GO:0000287 magnesium ion binding ISS,IEA --
GO:0005515 protein binding IPI,IEA 25416956
GO:0008270 zinc ion binding ISS,IEA --
GO:0016787 hydrolase activity IBA,IEA 21873635
genes like me logo Genes that share ontologies with NUDT12: view
genes like me logo Genes that share phenotypes with NUDT12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NUDT12

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUDT12 Gene

Localization for NUDT12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUDT12 Gene

Peroxisome. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUDT12 gene
Compartment Confidence
peroxisome 5
nucleus 5
cytosol 3
mitochondrion 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUDT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IDA,IBA 12790796
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with NUDT12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUDT12 Gene

Pathways & Interactions for NUDT12 Gene

genes like me logo Genes that share pathways with NUDT12: view

Pathways by source for NUDT12 Gene

1 GeneGo (Thomson Reuters) pathway for NUDT12 Gene
  • NAD metabolism

Gene Ontology (GO) - Biological Process for NUDT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006402 mRNA catabolic process IEA,ISS --
GO:0006734 NADH metabolic process IBA 21873635
GO:0006742 NADP catabolic process IDA,IEA 12790796
GO:0019677 NAD catabolic process IDA 12790796
GO:0034356 NAD biosynthesis via nicotinamide riboside salvage pathway TAS --
genes like me logo Genes that share ontologies with NUDT12: view

No data available for SIGNOR curated interactions for NUDT12 Gene

Drugs & Compounds for NUDT12 Gene

(6) Drugs for NUDT12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Manganese Approved Nutra 51
NADH Approved Nutra 0

(5) Additional Compounds for NUDT12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-nicotinamide D-ribonucleotide
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphonato-beta-D-ribofuranosyl)pyridinium
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, inner salt
  • beta-Nicotinamide D-ribonucleotide
  • beta-Nicotinamide mononucleotide
  • beta-Nicotinamide ribonucleotide
1094-61-7
nicotinate beta-D-ribonucleotide
  • beta-Nicotinate D-ribonucleotide
  • Nicotinate ribonucleotide
  • Nicotinic acid ribonucleotide
  • b-Nicotinate D-ribonucleotide
  • b-Nicotinic acid D-ribonucleotide
Nicotinic acid adenine dinucleotide
  • deamido-NAD
  • deamido-NAD+
  • deamino-NAD+
  • Nicotinate adenine dinucleotide
  • Deamidonicotinamide adenine dinucleoetide
6450-77-7
Nicotinic acid mononucleotide
  • 3-Carboxy-1-(5-O-phosphono-b-D-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-D-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-delta-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
  • 3-Carboxy-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
321-02-8
genes like me logo Genes that share compounds with NUDT12: view

Transcripts for NUDT12 Gene

mRNA/cDNA for NUDT12 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUDT12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for NUDT12 Gene

GeneLoc Exon Structure for
NUDT12

Expression for NUDT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUDT12 Gene

Protein differential expression in normal tissues from HIPED for NUDT12 Gene

This gene is overexpressed in Platelet (41.3) and Urine (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUDT12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUDT12

SOURCE GeneReport for Unigene cluster for NUDT12 Gene:

Hs.434289

Evidence on tissue expression from TISSUES for NUDT12 Gene

  • Nervous system(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with NUDT12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUDT12 Gene

Orthologs for NUDT12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUDT12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUDT12 31 30
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUDT12 31 30
  • 92.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUDT12 31 30
  • 92.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nudt12 17 31 30
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Nudt12 30
  • 83.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUDT12 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUDT12 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUDT12 31 30
  • 75.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUDT12 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nudt12 30
  • 68.21 (n)
zebrafish
(Danio rerio)
Actinopterygii nudt12 31 30
  • 58.26 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPY1 33 31 30
  • 46.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03146g 30
  • 44.84 (n)
soybean
(Glycine max)
eudicotyledons Gma.1733 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1778.03c 30
  • 48.52 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00293 30
  • 45.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3106 31
  • 42 (a)
OneToOne
Species where no ortholog for NUDT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUDT12 Gene

ENSEMBL:
Gene Tree for NUDT12 (if available)
TreeFam:
Gene Tree for NUDT12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUDT12: view image

Paralogs for NUDT12 Gene

Paralogs for NUDT12 Gene

(1) SIMAP similar genes for NUDT12 Gene using alignment to 2 proteins:

  • NUD12_HUMAN
  • E7EM93_HUMAN
genes like me logo Genes that share paralogs with NUDT12: view

Variants for NUDT12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUDT12 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs34468716 - p.Ile235Val
rs35903418 - p.Lys129Glu

Additional dbSNP identifiers (rs#s) for NUDT12 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUDT12 Gene

Variant ID Type Subtype PubMed ID
esv3606077 CNV gain 21293372

Variation tolerance for NUDT12 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUDT12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUDT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUDT12 Gene

Disorders for NUDT12 Gene

Additional Disease Information for NUDT12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NUDT12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NUDT12 Gene

Publications for NUDT12 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein. (PMID: 12790796) Abdelraheim SR … McLennan AG (The Biochemical journal 2003) 3 4 54

Products for NUDT12 Gene

Sources for NUDT12 Gene