• Gene id: 53343

Gene Summary

• Gene Symbol: NUDT9   Gene   UCSC   Ensembl
• Aliases: NUDT10
• Gene name: nudix hydrolase 9
• Alternate names: ADP-ribose pyrophosphatase, mitochondrial, ADP-ribose diphosphatase, ADP-ribose phosphohydrolase, ADP-ribose pyrosphosphatase NUDT9, ADPR-PPase, adenosine diphosphoribose pyrophosphatase, nucleoside diphosphate linked moiety X-type motif 9, nudix (nucleoside dip,
• Gene location: 4q22.1 (87420001: 87459454)     Exons: 9     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes th
• OMIM: 606022

Protein Summary

• Protein general information: Q9BW91  
  • Name: ADP ribose pyrophosphatase, mitochondrial (EC 3.6.1.13) (ADP ribose diphosphatase) (ADP ribose phosphohydrolase) (Adenosine diphosphoribose pyrophosphatase) (ADPR PPase) (Nucleoside diphosphate linked moiety X motif 9) (Nudix motif 9)
  • Length: 350  
  • Mass: 39125
  • Tissue specificity: Ubiquitously expressed but isoform 1 is the most predominant isoform. {ECO
• Sequence:

  MAGRLLGKALAAVSLSLALASVTIRSSRCRGIQAFRNSFSSSWFHLNTNVMSGSNGSKENSHNKARTSPYPGSKV
  ERSQVPNEKVGWLVEWQDYKPVEYTAVSVLAGPRWADPQISESNFSPKFNEKDGHVERKSKNGLYEIENGRPRNP
  AGRTGLVGRGLLGRWGPNHAADPIITRWKRDSSGNKIMHPVSGKHILQFVAIKRKDCGEWAIPGGMVDPGEKISA
  TLKREFGEEALNSLQKTSAEKREIEEKLHKLFSQDHLVIYKGYVDDPRNTDNAWMETEAVNYHDETGEIMDNLML
  EAGDDAGKVKWVDINDKLKLYASHSQFIKLVAEKRDAHWSEDSEADCHAL

• Structural information:
  • Protein Domains: (178..33-)
    (/note="Nudix-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00794"-)
  • Interpro: IPR015797  IPR000086  IPR039989  
  • Prosite: PS51462
  • PDB: 1Q33 1QVJ
  • PDBsum: 1Q33 1QVJ
  • STRING: ENSP00000303575
• Other Databases: GeneCards:  NUDT9  Malacards:  NUDT9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0043262	adenosine-diphosphatase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0047631	ADP-ribose diphosphatase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0047631	ADP-ribose diphosphatase activity	IEA	molecular function
GO:0047631	ADP-ribose diphosphatase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046709	IDP catabolic process	IEA	biological process
GO:0043262	adenosine-diphosphatase activity	IEA	molecular function
GO:0046032	ADP catabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0019144	ADP-sugar diphosphatase activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881