• Gene id: 83594

Gene Summary

• Gene Symbol: NUDT12   Gene   UCSC   Ensembl
• Gene name: nudix hydrolase 12
• Alternate names: peroxisomal NADH pyrophosphatase 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,
• Gene location: 5q21.2 (103562804: 103548854)     Exons: 30     NC_000005.10
• Gene summary(Entrez): 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 t
• OMIM: 609232

Protein Summary

• Protein general information: Q9BQG2  
  • Name: Peroxisomal NADH pyrophosphatase NUDT12 (EC 3.6.1.22) (Nucleoside diphosphate linked moiety X motif 12) (Nudix motif 12)
  • Length: 462  
  • Mass: 52076
• Sequence:

  MSSVKRSLKQEIVTQFHCSAAEGDIAKLTGILSHSPSLLNETSENGWTALMYAARNGHPEIVQFLLEKGCDRSIV
  NKSRQTALDIAVFWGYKHIANLLATAKGGKKPWFLTNEVEECENYFSKTLLDRKSEKRNNSDWLLAKESHPATVF
  ILFSDLNPLVTLGGNKESFQQPEVRLCQLNYTDIKDYLAQPEKITLIFLGVELEIKDKLLNYAGEVPREEEDGLV
  AWFALGIDPIAAEEFKQRHENCYFLHPPMPALLQLKEKEAGVVAQARSVLAWHSRYKFCPTCGNATKIEEGGYKR
  LCLKEDCPSLNGVHNTSYPRVDPVVIMQVIHPDGTKCLLGRQKRFPPGMFTCLAGFIEPGETIEDAVRREVEEES
  GVKVGHVQYVACQPWPMPSSLMIGCLALAVSTEIKVDKNEIEDARWFTREQVLDVLTKGKQQAFFVPPSRAIAHQ
  LIKHWIRINPNL

• Structural information:
  • Protein Domains: (319..45-)
    (/note="Nudix-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00794"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR015375  IPR015797   IPR020084  IPR000086  IPR015376  
  • Prosite: PS50297 PS50088 PS51462 PS00893
  • PDB: 6SCX
  • PDBsum: 6SCX
  • STRING: ENSP00000230792
• Other Databases: GeneCards:  NUDT12  Malacards:  NUDT12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006734	NADH metabolic process	IBA	biological process
GO:0006742	NADP catabolic process	IBA	biological process
GO:0016787	hydrolase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:0019677	NAD catabolic process	IBA	biological process
GO:0035529	NADH pyrophosphatase activity	IBA	molecular function
GO:0110155	NAD-cap decapping	IDA	biological process
GO:0110153	RNA NAD-cap (NMN-forming) hydrolase activity	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0006402	mRNA catabolic process	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0000210	NAD+ diphosphatase activity	IEA	molecular function
GO:0006742	NADP catabolic process	IDA	biological process
GO:0000210	NAD+ diphosphatase activity	IDA	molecular function
GO:0035529	NADH pyrophosphatase activity	IDA	molecular function
GO:0019677	NAD catabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0034356	NAD biosynthesis via nicotinamide riboside salvage pathway	TAS	biological process
GO:0035529	NADH pyrophosphatase activity	TAS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0110153	RNA NAD-cap (NMN-forming) hydrolase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0110155	NAD-cap decapping	IEA	biological process
GO:0006402	mRNA catabolic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000210	NAD+ diphosphatase activity	IDA	molecular function
GO:0035529	NADH pyrophosphatase activity	IDA	molecular function
GO:0019677	NAD catabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0006742	NADP catabolic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)