NUDT2 (9p13.3) , APAH1 (diadenosine tetraphosphatase)

https://www.ncbi.nlm.nih.gov/gene/318

APAH1

Summary

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Expression

Ubiquitous expression in ovary (RPKM 11.6), prostate (RPKM 10.9) and 25 other tissues See more

Orthologs

mouse all

Preferred Names

bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

Names

Ap4A hydrolase 1

Ap4Aase

bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)

diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase

diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase

diadenosine tetraphosphatase

nucleoside diphosphate-linked moiety X motif 2

nudix (nucleoside diphosphate linked moiety X)-type motif 2

nudix motif 2

NP_001152.1

• EC 3.6.1.17

 Structure, history 

  NP_001152.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] 

1991, Dinucleoside tetraphosphatase from human blood cells. Purification
            and characterization as a high specific activity enzyme recognized
            by an anti-rat tetraphosphatase antibody

Conserved Domains (1) summary

cd03428
Location:2 → 140

Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...

Related articles in PubMed

1. NUDT2 Disruption Elevates Diadenosine Tetraphosphate (Ap4A) and Down-Regulates Immune Response and Cancer Promotion Genes. Marriott AS, et al. PLoS One, 2016. PMID 27144453, Free PMC Article
2. Crystal structure of wild-type and mutant human Ap4A hydrolase. Ge H, et al. Biochem Biophys Res Commun, 2013 Mar 1. PMID 23384440
3. Nudix-type motif 2 in human breast carcinoma: a potent prognostic factor associated with cell proliferation. Oka K, et al. Int J Cancer, 2011 Apr 15. PMID 20533549
4. 1H, 13C, and 15N resonance assignments of the 17 kDa Ap4A hydrolase from Homo sapiens in the presence and absence of ATP. Swarbrick JD, et al. J Biomol NMR, 2005 Feb. PMID 15772762
5. Structure and substrate-binding mechanism of human Ap4A hydrolase. Swarbrick JD, et al. J Biol Chem, 2005 Mar 4. PMID 15596429

See all (25) citations in PubMed

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

GeneRIFs: Gene References Into Functions

1. NUDT2 is a novel complex formation enhancing factor regulating mTORC1-Rag GTPase signaling that is crucial for cell growth control.
2. Regulation of gene expression is one of several roles proposed for the stress-induced nucleotide diadenosine tetraphosphate (Ap4A). We have examined this directly by a comparative RNA-Seq analysis of KBM-7 chronic myelogenous leukemia cells and KBM-7 cells in which the NUDT2 Ap4A hydrolase gene had been disrupted (NuKO cells), causing a 175-fold increase in intracellular Ap4A.
3. This paper presents the crystal structure of wild-type and E58A mutant human Ap4A hydrolase.
4. High NUDT2 is associated with breast carcinoma.
5. Observational study of gene-disease association. (HuGE Navigator)
6. In this study the authors present data demonstrating that the SARS-CoV 7a protein interacts with human Ap4A-hydrolase (asymmetrical diadenosine tetraphosphate hydrolase, EC 3.6.1.17).
7. NMR resonance assignments
8. crystallographic structure and substrate-binding mechanism of Ap4A hydrolase