• Gene id: 58497

Gene Summary

• Gene Symbol: PRUNE1   Gene   UCSC   Ensembl
• Aliases: DRES-17, DRES17, H-PRUNE, HTCD37, NMIHBA, PRUNE
• Gene name: prune exopolyphosphatase 1
• Alternate names: exopolyphosphatase PRUNE1, Drosophila-related expressed sequence 17, protein prune homolog, protein prune homolog 1,
• Gene location: 1q21.3 (151008404: 151035712)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastase
• OMIM: 109630

Protein Summary

• Protein general information: Q86TP1  
  • Name: Exopolyphosphatase PRUNE1 (EC 3.6.1.1) (Drosophila related expressed sequence 17) (DRES 17) (DRES17) (HTcD37) (Protein prune homolog 1) (hPrune)
  • Length: 453  
  • Mass: 50200
  • Tissue specificity: Ubiquitously expressed. Seems to be overexpressed in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. {ECO
• Sequence:

  MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKTTEAEEVFVPVLNIKRSELPLRGDIVFFLQK
  VHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSKSDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCAT
  LVTERILQGAPEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDV
  SGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLA
  IFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPET
  ADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASL
  SKK

• Structural information:
  • Interpro: IPR001667  IPR038763  IPR004097  IPR038222  
  • STRING: ENSP00000271620
• Other Databases: GeneCards:  PRUNE1  Malacards:  PRUNE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004309	exopolyphosphatase activity	IBA	molecular function
GO:0006798	polyphosphate catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0015631	tubulin binding	IDA	molecular function
GO:0016791	phosphatase activity	IDA	molecular function
GO:0031113	regulation of microtubule polymerization	IMP	biological process
GO:0050767	regulation of neurogenesis	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016462	pyrophosphatase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004427	inorganic diphosphatase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016311	dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R