NUDT12(5q21.2) Peroxisomal NADH pyrophosphatase

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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Preferred Names

peroxisomal NADH pyrophosphatase NUDT12

Names

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

NP_001287670.1

• EC 3.6.1.22

Structure, History

 https://www.ncbi.nlm.nih.gov/protein/NP_001287670.1

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)

Related articles in PubMed

1. A genome-wide association study of depressive symptoms. Hek K, et al. Biol Psychiatry, 2013 Apr 1. PMID 23290196, Free PMC Article
2. Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein. Abdelraheim SR, et al. Biochem J, 2003 Sep 1. PMID 12790796, Free PMC Article
3. A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. López S, et al. Mitochondrion, 2014 Sep. PMID 25240745
4. Genome-wide association study of smoking behaviours in patients with COPD. Siedlinski M, et al. Thorax, 2011 Oct. PMID 21685187, Free PMC Article
5. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
2. NUDT12 may act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle.