Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	58497
Gene name	Prune exopolyphosphatase 1
Gene symbol	PRUNE1
Synonyms (NCBI Gene)	DRES-17DRES17H-PRUNEHTCD37NMIHBAPRUNE
Chromosome	1
Chromosome location	1q21.3
Summary	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

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137929776	C>T	Pathogenic	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs200618384	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, missense variant
rs752599948	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs767769359	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant, 5 prime UTR variant
rs773618224	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant, synonymous variant
rs886039608	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs1057521927	G>A	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1085308033	C>A	Pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1553253812	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553254265	T>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439887	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439887	hsa-miR-218-5p	HITS-CLIP	23212916

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004309	Function	Exopolyphosphatase activity	IBA
GO:0004427	Function	Inorganic diphosphate phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	10602478, 17906697, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005925	Component	Focal adhesion	IEA
GO:0015631	Function	Tubulin binding	IDA	28334956
GO:0016462	Function	Pyrophosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IDA	28334956
GO:0031113	Process	Regulation of microtubule polymerization	IMP	28334956
GO:0046872	Function	Metal ion binding	IEA
GO:0050767	Process	Regulation of neurogenesis	IMP	28334956
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
617413	13420	ENSG00000143363

Q86TP1

Protein name

Exopolyphosphatase PRUNE1 (EC 3.6.1.1) (Drosophila-related expressed sequence 17) (DRES-17) (DRES17) (HTcD37) (Protein prune homolog 1) (hPrune)

Protein function

Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (Pu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01368	DHH	19 → 176	DHH family	Family
PF02833	DHHA2	216 → 358	DHHA2 domain	Family

Tissue specificity

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:0000269|PubMed:10602478, ECO:000026

Sequence

MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKTTEAEEVFVPVLNIKR
SELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSKSDTALEEA
VAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGAPEILDRQTAALLHGTIILDC
VNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKT
IYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLA
IFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALS
AYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECP
LDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK

Sequence length

453

Interactions

View interactions

	KEGG
	Purine metabolism Metabolic pathways

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs1057521927, rs767769359, rs773618224, rs200618384	RCV000454192 RCV000454286 RCV000454333 RCV000454323
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Likely pathogenic; Pathogenic	rs1232331611, rs2102908451, rs1456845940, rs2528381693, rs886039608, rs1057521927, rs767769359, rs773618224, rs200618384, rs1085308033, rs752599948, rs137929776, rs1674200670	RCV001542543 RCV002293291 RCV002293292 RCV002293293 RCV000490536 RCV000490538 RCV000490541 RCV000490535 RCV000490537 RCV000490539 RCV000490542 RCV004689765 RCV001200669
PRUNE1-related disorder	Likely pathogenic	rs886039608, rs587684563	RCV003897593 RCV003899192
Squamous cell lung carcinoma	Likely pathogenic	rs886039608	RCV005895450

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs150450383	RCV005930204

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	35379233
Amyotrophic Lateral Sclerosis	Associate	32134588
Anorchia	Associate	35379233
Brain Diseases	Associate	32134588, 35379233
Breast Neoplasms	Associate	14998490, 20735841
Carcinoma Hepatocellular	Associate	30665854
Central Nervous System Vascular Malformations	Associate	35379233
Cerebellar Diseases	Associate	35379233
Cerebral Palsy	Associate	35379233
Cerebral Palsy Spastic Quadriplegic 2	Associate	35379233
Developmental Disabilities	Associate	32134588, 35379233
Microcephaly	Associate	28334956, 32134588, 35379233
Muscle Hypotonia	Associate	35379233
Muscle Spasticity	Associate	32134588
Muscular Atrophy Spinal	Associate	32134588
Neoplasm Metastasis	Associate	30665854
Neoplasms	Associate	14998490, 17532757, 28334956
Nervous System Diseases	Associate	28334956
Neurodegenerative Diseases	Associate	32134588
Seizures	Associate	32134588
Stomach Neoplasms	Associate	17532757

PRUNE1 (prune exopolyphosphatase 1)