PRUNE1

Functionⁱ

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 (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).6 Publications

Catalytic activityⁱ

diphosphate
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
H₂O
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
=
H⁺
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+ 2
phosphate
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
EC:
3.6.1.1
- Search proteins in UniProtKB for this EC number.
- See the description of this EC number in ENZYME.
Source:
Rhea
Search for this reaction in UniProtKB.
See the description of this reaction in Rhea.
. Show »« Hide
diphosphate
zoom
+
H₂O
=
H⁺
+
2
phosphate
zoom

Cofactorⁱ

Mn²⁺By similarityNote: Binds 2 manganese ions per subunit.By similarity

Activity regulationⁱ

Activated by magnesium ions and inhibited by manganese ions. Inhibited by dipyridamole, moderately sensitive to IBMX and inhibited by vinpocetine.1 Publication

Kineticsⁱ

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	28	Manganese 1By similarity	1
Metal bindingⁱ	30	Manganese 2By similarity	1
Metal bindingⁱ	106	Manganese 1By similarity	1
Metal bindingⁱ	106	Manganese 2By similarity	1
Metal bindingⁱ	179	Manganese 2By similarity	1

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Hydrolase
Ligand	Manganese, Metal-binding

Enzyme and pathway databases

PathwayCommonsⁱ	Q86TP1
SABIO-RKⁱ	Q86TP1

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Exopolyphosphatase PRUNE1 (EC:3.6.1.1) Alternative name(s): Drosophila-related expressed sequence 17 Short name: DRES-17 Short name: DRES17 HTcD37 Protein prune homolog 1 Short name: hPrune
Gene namesⁱ	Name:PRUNE1Imported Synonyms:PRUNE
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:13420, PRUNE1
MIMⁱ	617413, gene
neXtProtⁱ	NX_Q86TP1
VEuPathDBⁱ	HostDB:ENSG00000143363.15

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Cell junction, Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA)3 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_078986	30	D → N in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; no effect on interaction with tubulin beta. 2 PublicationsCorresponds to variant dbSNP:rs1057521927EnsemblClinVar.	1
Natural variantⁱVAR_078987	54	P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033EnsemblClinVar.	1
Natural variantⁱVAR_078988	106	D → N in NMIHBA. 2 PublicationsCorresponds to variant dbSNP:rs773618224EnsemblClinVar.	1
Natural variantⁱVAR_078989	128	R → Q in NMIHBA. 1 PublicationCorresponds to variant dbSNP:rs767769359EnsemblClinVar.	1
Natural variantⁱVAR_078990	174 – 453	Missing in NMIHBA. 1 PublicationAdd BLAST	280
Natural variantⁱVAR_078991	297	R → W in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; decreased interaction with tubulin beta. 1 PublicationCorresponds to variant dbSNP:rs752599948EnsemblClinVar.	1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	28	D → A: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-106. Partial loss of cAMP PDE activity; when associated with D-106 and D-179. 1 Publication	1
Mutagenesisⁱ	106	D → A: No change in cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28. Partial loss of cAMP PDE activity; when associated with D-28 and D-179. 1 Publication	1
Mutagenesisⁱ	126 – 129	DHRP → AAAA: Partial loss of cAMP PDE activity. 1 Publication	4
Mutagenesisⁱ	179	D → A: Partial loss of cAMP PDE activity. Partial loss of cAMP PDE activity; when associated with D-28 and D-106. 1 Publication	1

Keywords - Diseaseⁱ

Disease variant, Mental retardation, Neurodegeneration, Primary microcephaly

Organism-specific databases

DisGeNET More...DisGeNETⁱ	58497
MalaCards human disease database More...MalaCardsⁱ	PRUNE1
MIMⁱ	617481, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000143363
Orphanetⁱ	544469, PRUNE1-related neurological syndrome
PharmGKBⁱ	PA134939749

Miscellaneous databases

Pharosⁱ	Q86TP1, Tchem

Pharosⁱ

Q86TP1, Tchem

Chemistry databases

ChEMBLⁱ	CHEMBL2079850
DrugCentral More...DrugCentralⁱ	Q86TP1

Genetic variation databases

BioMutaⁱ	PRUNE1
DMDMⁱ	229462737

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000337987	1 – 453	Exopolyphosphatase PRUNE1Add BLAST		453

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	1	N-acetylmethionineCombined sources	1
Modified residueⁱ	399	PhosphoserineBy similarity	1
Modified residueⁱ	410	PhosphothreonineBy similarity	1
Modified residueⁱ	414	PhosphoserineBy similarity	1

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q86TP1
jPOSTⁱ	Q86TP1
MassIVEⁱ	Q86TP1
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q86TP1
PaxDbⁱ	Q86TP1
PeptideAtlas More...PeptideAtlasⁱ	Q86TP1
PRIDEⁱ	Q86TP1
ProteomicsDBⁱ	69719 [Q86TP1-1] 69720 [Q86TP1-2] 69721 [Q86TP1-3] 69722 [Q86TP1-4] 69723 [Q86TP1-5] 69724 [Q86TP1-6] 69725 [Q86TP1-7]

PTM databases

iPTMnetⁱ	Q86TP1
PhosphoSitePlusⁱ	Q86TP1

Expressionⁱ

Tissue specificityⁱ

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.3 Publications

Gene expression databases

Bgeeⁱ	ENSG00000143363, Expressed in secondary oocyte and 253 other tissues
ExpressionAtlasⁱ	Q86TP1, baseline and differential
Genevisibleⁱ	Q86TP1, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000143363, Low tissue specificity

HPAⁱ

ENSG00000143363, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Homooligomer. Able to homodimerize via its C-terminal domain.

Interacts with NME1.

Interacts with GSK3; at focal adhesion complexes where paxillin and vinculin are colocalized.

Interacts with alpha and beta tubulin (PubMed:28334956).

6 Publications

Binary interactionsⁱ

Q86TP1

With	#Exp.	IntAct
NME1 [P15531]	2	EBI-2127112,EBI-741141

GO - Molecular functionⁱ

tubulin binding
Source: UniProtKB
Inferred from direct assayⁱ
- Ref.18
  "PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment."
  Zollo M., Ahmed M., Ferrucci V., Salpietro V., Asadzadeh F., Carotenuto M., Maroofian R., Al-Amri A., Singh R., Scognamiglio I., Mojarrad M., Musella L., Duilio A., Di Somma A., Karaca E., Rajab A., Al-Khayat A., Mohan Mohapatra T.
  Baple E.L.
  Brain 140:940-952(2017) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, INTERACTION WITH TUBULIN, INVOLVEMENT IN NMIHBA, VARIANTS NMIHBA ASN-30; THR-54; ASN-106 AND TRP-297, CHARACTERIZATION OF VARIANTS NMIHBA ASN-30 AND TRP-297.

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	121827, 20 interactors
CORUMⁱ	Q86TP1
IntActⁱ	Q86TP1, 10 interactors
STRINGⁱ	9606.ENSP00000271620

Chemistry databases

BindingDBⁱ

Q86TP1

Miscellaneous databases

RNActⁱ	Q86TP1, protein

RNActⁱ

Q86TP1, protein

Structureⁱ

3D structure databases

BMRBⁱ	Q86TP1
SMRⁱ	Q86TP1
ModBaseⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	393 – 420	Essential for homodimerizationAdd BLAST		28

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	106 – 108	DHH motif		3

Sequence similaritiesⁱ

Belongs to the PPase class C family. Prune subfamily.Curated

Phylogenomic databases

eggNOGⁱ	KOG4129, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00450000040262
HOGENOMⁱ	CLU_019358_2_0_1
InParanoidⁱ	Q86TP1
OMAⁱ	RHLLVWG
Database of Orthologous Groups More...OrthoDBⁱ	1545660at2759
PhylomeDBⁱ	Q86TP1
TreeFamⁱ	TF323914

Family and domain databases

Gene3Dⁱ	3.10.310.20, 1 hit
InterProⁱ	View protein in InterPro IPR001667, DDH_dom IPR038763, DHH_sf IPR004097, DHHA2 IPR038222, DHHA2_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01368, DHH, 1 hit PF02833, DHHA2, 1 hit
SMARTⁱ	View protein in SMART SM01131, DHHA2, 1 hit
SUPFAMⁱ	SSF64182, SSF64182, 1 hit

Sequences (7+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 7 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q86TP1-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEDYLQGCRA ALQESRPLHV VLGNEACDLD STVSALALAF YLAKTTEAEE 
        60         70         80         90        100
VFVPVLNIKR SELPLRGDIV FFLQKVHIPE SILIFRDEID LHALYQAGQL 
       110        120        130        140        150
TLILVDHHIL SKSDTALEEA VAEVLDHRPI EPKHCPPCHV SVELVGSCAT 
       160        170        180        190        200
LVTERILQGA PEILDRQTAA LLHGTIILDC VNMDLKIGKA TPKDSKYVEK 
       210        220        230        240        250
LEALFPDLPK RNDIFDSLQK AKFDVSGLTT EQMLRKDQKT IYRQGVKVAI 
       260        270        280        290        300
SAIYMDLEAF LQRSNLLADL HAFCQAHSYD VLVAMTIFFN THNEPVRQLA 
       310        320        330        340        350
IFCPHVALQT TICEVLERSH SPPLKLTPAS STHPNLHAYL QGNTQVSRKK 
       360        370        380        390        400
LLPLLQEALS AYFDSMKIPS GQPETADVSR EQVDKELDRA SNSLISGLSQ 
       410        420        430        440        450
DEEDPPLPPT PMNSLVDECP LDQGLPKLSA EAVFEKCSQI SLSQSTTASL 

SKK

Length:453

Mass (Da):50,200

Last modified:May 5, 2009 - v2

Checksum:ⁱ34BE1909AB89DBD5

GO

Isoform 2 (identifier: Q86TP1-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
45-112: TTEAEEVFVPVLNIKRSELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSK → A

« Hide

        10         20         30         40         50
MEDYLQGCRA ALQESRPLHV VLGNEACDLD STVSALALAF YLAKASDTAL 
        60         70         80         90        100
EEAVAEVLDH RPIEPKHCPP CHVSVELVGS CATLVTERIL QGAPEILDRQ 
       110        120        130        140        150
TAALLHGTII LDCVNMDLKI GKATPKDSKY VEKLEALFPD LPKRNDIFDS 
       160        170        180        190        200
LQKAKFDVSG LTTEQMLRKD QKTIYRQGVK VAISAIYMDL EAFLQRSNLL 
       210        220        230        240        250
ADLHAFCQAH SYDVLVAMTI FFNTHNEPVR QLAIFCPHVA LQTTICEVLE 
       260        270        280        290        300
RSHSPPLKLT PASSTHPNLH AYLQGNTQVS RKKLLPLLQE ALSAYFDSMK 
       310        320        330        340        350
IPSGQPETAD VSREQVDKEL DRASNSLISG LSQDEEDPPL PPTPMNSLVD 
       360        370        380 
ECPLDQGLPK LSAEAVFEKC SQISLSQSTT ASLSKK

Show »

Length:386

Mass (Da):42,456

Checksum:ⁱ6E3355352353B0A5

GO

Isoform 3 (identifier: Q86TP1-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-182: Missing.

« Hide

        10         20         30         40         50
MDLKIGKATP KDSKYVEKLE ALFPDLPKRN DIFDSLQKAK FDVSGLTTEQ 
        60         70         80         90        100
MLRKDQKTIY RQGVKVAISA IYMDLEAFLQ RSNLLADLHA FCQAHSYDVL 
       110        120        130        140        150
VAMTIFFNTH NEPVRQLAIF CPHVALQTTI CEVLERSHSP PLKLTPASST 
       160        170        180        190        200
HPNLHAYLQG NTQVSRKKLL PLLQEALSAY FDSMKIPSGQ PETADVSREQ 
       210        220        230        240        250
VDKELDRASN SLISGLSQDE EDPPLPPTPM NSLVDECPLD QGLPKLSAEA 
       260        270 
VFEKCSQISL SQSTTASLSK K

Show »

Length:271

Mass (Da):30,127

Checksum:ⁱEADC5693A59D308F

GO

Isoform 4 (identifier: Q86TP1-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
15-174: Missing.
259-311: Missing.

« Hide

        10         20         30         40         50
MEDYLQGCRA ALQETIILDC VNMDLKIGKA TPKDSKYVEK LEALFPDLPK 
        60         70         80         90        100
RNDIFDSLQK AKFDVSGLTT EQMLRKDQKT IYRQGVKVAI SAIYMDLEIC 
       110        120        130        140        150
EVLERSHSPP LKLTPASSTH PNLHAYLQGN TQVSRKKLLP LLQEALSAYF 
       160        170        180        190        200
DSMKIPSGQP ETADVSREQV DKELDRASNS LISGLSQDEE DPPLPPTPMN 
       210        220        230        240
SLVDECPLDQ GLPKLSAEAV FEKCSQISLS QSTTASLSKK

Show »

Length:240

Mass (Da):26,611

Checksum:ⁱ7D8897402A2B3136

GO

Isoform 5 (identifier: Q86TP1-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-182: Missing.
259-311: Missing.

« Hide

        10         20         30         40         50
MDLKIGKATP KDSKYVEKLE ALFPDLPKRN DIFDSLQKAK FDVSGLTTEQ 
        60         70         80         90        100
MLRKDQKTIY RQGVKVAISA IYMDLEICEV LERSHSPPLK LTPASSTHPN 
       110        120        130        140        150
LHAYLQGNTQ VSRKKLLPLL QEALSAYFDS MKIPSGQPET ADVSREQVDK 
       160        170        180        190        200
ELDRASNSLI SGLSQDEEDP PLPPTPMNSL VDECPLDQGL PKLSAEAVFE 
       210 
KCSQISLSQS TTASLSKK

Show »

Length:218

Mass (Da):24,131

Checksum:ⁱDC0632A96FDD07EE

GO

Isoform 6 (identifier: Q86TP1-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-232: Missing.
259-311: Missing.

« Hide

        10         20         30         40         50
MLRKDQKTIY RQGVKVAISA IYMDLEICEV LERSHSPPLK LTPASSTHPN 
        60         70         80         90        100
LHAYLQGNTQ VSRKKLLPLL QEALSAYFDS MKIPSGQPET ADVSREQVDK 
       110        120        130        140        150
ELDRASNSLI SGLSQDEEDP PLPPTPMNSL VDECPLDQGL PKLSAEAVFE 
       160 
KCSQISLSQS TTASLSKK

Show »

Length:168

Mass (Da):18,478

Checksum:ⁱ54405F7EA079B5C2

GO

Isoform 7 (identifier: Q86TP1-7) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-232: Missing.

« Hide

        10         20         30         40         50
MLRKDQKTIY RQGVKVAISA IYMDLEAFLQ RSNLLADLHA FCQAHSYDVL 
        60         70         80         90        100
VAMTIFFNTH NEPVRQLAIF CPHVALQTTI CEVLERSHSP PLKLTPASST 
       110        120        130        140        150
HPNLHAYLQG NTQVSRKKLL PLLQEALSAY FDSMKIPSGQ PETADVSREQ 
       160        170        180        190        200
VDKELDRASN SLISGLSQDE EDPPLPPTPM NSLVDECPLD QGLPKLSAEA 
       210        220 
VFEKCSQISL SQSTTASLSK K

Show »

Length:221

Mass (Da):24,475

Checksum:ⁱ108DE09A66C5F957

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q5SZG1	Q5SZG1_HUMAN	Exopolyphosphatase PRUNE1 Exopolyphosphatase PRUNE1	PRUNE1	178	Annotation score:
A0A3B3ITN0	A0A3B3ITN0_HUMAN	Exopolyphosphatase PRUNE1 Exopolyphosphatase PRUNE1	PRUNE1	454	Annotation score:
Q5SZF2	Q5SZF2_HUMAN	Exopolyphosphatase PRUNE1 Exopolyphosphatase PRUNE1	PRUNE1	139	Annotation score:

Sequence cautionⁱ

The sequence BAB55423 differs from that shown. Reason: Erroneous initiation.Curated

The sequence BAG60534 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	14	E → A in AAK00592 (Ref. 2) Curated	1
Sequence conflictⁱ	19 – 22	HVVL → AWHE in AAF04914 (PubMed:10524757).Curated	4
Sequence conflictⁱ	221	A → V in AAC95290 (PubMed:10602478).Curated	1
Sequence conflictⁱ	221	A → V in AAF04914 (PubMed:10524757).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_078986	30	D → N in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; no effect on interaction with tubulin beta. 2 PublicationsCorresponds to variant dbSNP:rs1057521927EnsemblClinVar.	1
Natural variantⁱVAR_078987	54	P → T in NMIHBA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308033EnsemblClinVar.	1
Natural variantⁱVAR_078988	106	D → N in NMIHBA. 2 PublicationsCorresponds to variant dbSNP:rs773618224EnsemblClinVar.	1
Natural variantⁱVAR_078989	128	R → Q in NMIHBA. 1 PublicationCorresponds to variant dbSNP:rs767769359EnsemblClinVar.	1
Natural variantⁱVAR_078990	174 – 453	Missing in NMIHBA. 1 PublicationAdd BLAST	280
Natural variantⁱVAR_078991	297	R → W in NMIHBA; loss of function in regulation of cell proliferation and migration; loss of function in neurogenesis; impaired regulation of microtubule polymerization; increased phosphatase activity; decreased interaction with tubulin beta. 1 PublicationCorresponds to variant dbSNP:rs752599948EnsemblClinVar.	1
Natural variantⁱVAR_059559	397	G → R. Corresponds to variant dbSNP:rs3738477Ensembl.	1
Natural variantⁱVAR_043728	397	G → S. Corresponds to variant dbSNP:rs3738477Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_034013	1 – 232	Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST	232
Alternative sequenceⁱVSP_034014	1 – 182	Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST	182
Alternative sequenceⁱVSP_034015	15 – 174	Missing in isoform 4. 1 PublicationAdd BLAST	160
Alternative sequenceⁱVSP_034016	45 – 112	TTEAE…HILSK → A in isoform 2. 1 PublicationAdd BLAST	68
Alternative sequenceⁱVSP_034017	259 – 311	Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST	53

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF051907 mRNA Translation: AAC95290.1 AF123538 mRNA Translation: AAK00592.1 AF123539 mRNA Translation: AAK00593.1 AK027875 mRNA Translation: BAB55423.1 Different initiation. AK294154 mRNA Translation: BAG57478.1 AK298273 mRNA Translation: BAG60534.1 Different initiation. AK315120 mRNA Translation: BAG37575.1 AL590133 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53486.1 CH471121 Genomic DNA Translation: EAW53488.1 CH471121 Genomic DNA Translation: EAW53489.1 BC014886 mRNA Translation: AAH14886.1 BC025304 mRNA Translation: AAH25304.1 BC063481 mRNA Translation: AAH63481.1 U67085 mRNA Translation: AAF04914.1 AL122054 mRNA Translation: CAH56396.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS76211.1 [Q86TP1-3] CCDS977.1 [Q86TP1-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001290158.1, NM_001303229.1 [Q86TP1-3] NP_001290171.1, NM_001303242.1 NP_001290172.1, NM_001303243.1 NP_067045.1, NM_021222.2 [Q86TP1-1] XP_011508134.1, XM_011509832.2 [Q86TP1-3] XP_016857445.1, XM_017001956.1 [Q86TP1-3]

Genome annotation databases

Ensemblⁱ	ENST00000271620; ENSP00000271620; ENSG00000143363 [Q86TP1-1] ENST00000368934; ENSP00000357930; ENSG00000143363 [Q86TP1-5] ENST00000368935; ENSP00000357931; ENSG00000143363 [Q86TP1-6] ENST00000368936; ENSP00000357932; ENSG00000143363 [Q86TP1-3] ENST00000368937; ENSP00000357933; ENSG00000143363 [Q86TP1-5]
GeneIDⁱ	58497
KEGGⁱ	hsa:58497
UCSC genome browser More...UCSCⁱ	uc001ewh.2, human [Q86TP1-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Protein	Similar proteins		Species	Score	Length	Source
Q86TP1	Exopolyphosphatase PRUNE1 (Fragment)		HUMAN		139	UniRef100_Q86TP1
cDNA, FLJ79436, highly similar to Homo sapiens prune homolog (PRUNE), mRNA		HUMAN		169
Isoform 3 of Exopolyphosphatase PRUNE1		HUMAN		271
Isoform 7 of Exopolyphosphatase PRUNE1		HUMAN		221
Q86TP1-5	PRUNE1 isoform 9		PANTR		168	UniRef100_A0A2J8JJB0
Isoform 6 of Exopolyphosphatase PRUNE1		HUMAN		168
Exopolyphosphatase PRUNE1 (Fragment)		HUMAN		178
+1

Protein	Similar proteins		Species	Score	Length	Source
Q86TP1	Exopolyphosphatase PRUNE1 (Fragment)		HUMAN		139	UniRef90_Q86TP1
DHHA2 domain-containing protein		CERAT		457
DHHA2 domain-containing protein		AOTNA		456
DHHA2 domain-containing protein		MACNE		453
Uncharacterized protein		PONAB		453
+110
Q86TP1-4	DHHA2 domain-containing protein		PROCO		218	UniRef90_Q86TP1-4
DHHA2 domain-containing protein		RHIRO		218
DHHA2 domain-containing protein		RHIBE		218
Prune exopolyphosphatase 1		CALJA		218
Prune exopolyphosphatase 1		SAIBB		218
+1

Protein	Similar proteins		Species	Score	Length	Source
Q86TP1	Exopolyphosphatase PRUNE1		BOVIN		453	UniRef50_Q86TP1
Exopolyphosphatase PRUNE1 (Fragment)		HUMAN		139
DHHA2 domain-containing protein		CERAT		457
DHHA2 domain-containing protein		AOTNA		456
Prune exopolyphosphatase 1		PANTR		453
+295
Q86TP1-4	Prune exopolyphosphatase 1		CALJA		218	UniRef50_Q86TP1-4
Prune exopolyphosphatase 1		SAIBB		218
DHHA2 domain-containing protein		PROCO		218
DHHA2 domain-containing protein		RHIRO		218
DHHA2 domain-containing protein		RHIBE		218
+7

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF051907 mRNA Translation: AAC95290.1 AF123538 mRNA Translation: AAK00592.1 AF123539 mRNA Translation: AAK00593.1 AK027875 mRNA Translation: BAB55423.1 Different initiation. AK294154 mRNA Translation: BAG57478.1 AK298273 mRNA Translation: BAG60534.1 Different initiation. AK315120 mRNA Translation: BAG37575.1 AL590133 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53486.1 CH471121 Genomic DNA Translation: EAW53488.1 CH471121 Genomic DNA Translation: EAW53489.1 BC014886 mRNA Translation: AAH14886.1 BC025304 mRNA Translation: AAH25304.1 BC063481 mRNA Translation: AAH63481.1 U67085 mRNA Translation: AAF04914.1 AL122054 mRNA Translation: CAH56396.1
CCDSⁱ	CCDS76211.1 [Q86TP1-3] CCDS977.1 [Q86TP1-1]
RefSeqⁱ	NP_001290158.1, NM_001303229.1 [Q86TP1-3] NP_001290171.1, NM_001303242.1 NP_001290172.1, NM_001303243.1 NP_067045.1, NM_021222.2 [Q86TP1-1] XP_011508134.1, XM_011509832.2 [Q86TP1-3] XP_016857445.1, XM_017001956.1 [Q86TP1-3]

3D structure databases

BMRBⁱ	Q86TP1
SMRⁱ	Q86TP1
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	121827, 20 interactors
CORUMⁱ	Q86TP1
IntActⁱ	Q86TP1, 10 interactors
STRINGⁱ	9606.ENSP00000271620

Chemistry databases

BindingDBⁱ	Q86TP1
ChEMBLⁱ	CHEMBL2079850
DrugCentralⁱ	Q86TP1

PTM databases

iPTMnetⁱ	Q86TP1
PhosphoSitePlusⁱ	Q86TP1

Genetic variation databases

BioMutaⁱ	PRUNE1
DMDMⁱ	229462737

Proteomic databases

EPDⁱ	Q86TP1
jPOSTⁱ	Q86TP1
MassIVEⁱ	Q86TP1
MaxQBⁱ	Q86TP1
PaxDbⁱ	Q86TP1
PeptideAtlasⁱ	Q86TP1
PRIDEⁱ	Q86TP1
ProteomicsDBⁱ	69719 [Q86TP1-1] 69720 [Q86TP1-2] 69721 [Q86TP1-3] 69722 [Q86TP1-4] 69723 [Q86TP1-5] 69724 [Q86TP1-6] 69725 [Q86TP1-7]

Protocols and materials databases

Antibodypediaⁱ	34044, 203 antibodies
The DNASU plasmid repository More...DNASUⁱ	58497

Genome annotation databases

Ensemblⁱ	ENST00000271620; ENSP00000271620; ENSG00000143363 [Q86TP1-1] ENST00000368934; ENSP00000357930; ENSG00000143363 [Q86TP1-5] ENST00000368935; ENSP00000357931; ENSG00000143363 [Q86TP1-6] ENST00000368936; ENSP00000357932; ENSG00000143363 [Q86TP1-3] ENST00000368937; ENSP00000357933; ENSG00000143363 [Q86TP1-5]
GeneIDⁱ	58497
KEGGⁱ	hsa:58497
UCSCⁱ	uc001ewh.2, human [Q86TP1-1]

Organism-specific databases

CTDⁱ	58497
DisGeNETⁱ	58497
GeneCardsⁱ	PRUNE1
HGNCⁱ	HGNC:13420, PRUNE1
HPAⁱ	ENSG00000143363, Low tissue specificity
MalaCardsⁱ	PRUNE1
MIMⁱ	617413, gene 617481, phenotype
neXtProtⁱ	NX_Q86TP1
OpenTargetsⁱ	ENSG00000143363
Orphanetⁱ	544469, PRUNE1-related neurological syndrome
PharmGKBⁱ	PA134939749
VEuPathDBⁱ	HostDB:ENSG00000143363.15
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4129, Eukaryota
GeneTreeⁱ	ENSGT00450000040262
HOGENOMⁱ	CLU_019358_2_0_1
InParanoidⁱ	Q86TP1
OMAⁱ	RHLLVWG
OrthoDBⁱ	1545660at2759
PhylomeDBⁱ	Q86TP1
TreeFamⁱ	TF323914

Enzyme and pathway databases

PathwayCommonsⁱ	Q86TP1
SABIO-RKⁱ	Q86TP1

Miscellaneous databases

BioGRID-ORCSⁱ	58497, 64 hits in 880 CRISPR screens
ChiTaRSⁱ	PRUNE1, human
GenomeRNAiⁱ	58497
Pharosⁱ	Q86TP1, Tchem
Protein Ontology More...PROⁱ	PR:Q86TP1
RNActⁱ	Q86TP1, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000143363, Expressed in secondary oocyte and 253 other tissues
ExpressionAtlasⁱ	Q86TP1, baseline and differential
Genevisibleⁱ	Q86TP1, HS

Family and domain databases

Gene3Dⁱ	3.10.310.20, 1 hit
InterProⁱ	View protein in InterPro IPR001667, DDH_dom IPR038763, DHH_sf IPR004097, DHHA2 IPR038222, DHHA2_dom_sf
Pfamⁱ	View protein in Pfam PF01368, DHH, 1 hit PF02833, DHHA2, 1 hit
SMARTⁱ	View protein in SMART SM01131, DHHA2, 1 hit
SUPFAMⁱ	SSF64182, SSF64182, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PRUN1_HUMAN
Accessionⁱ	Q86TP1Primary (citable) accession number: Q86TP1 Secondary accession number(s): B2RCH8 Q9UIV0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	June 10, 2008
	Last sequence update:	May 5, 2009
	Last modified:	February 10, 2021
	This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Reference proteome

Documents

Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families
Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q86TP1 (PRUN1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Exopolyphosphatase PRUNE1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Cytosol

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Chemistry databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q86TP1

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Motif

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Your basket is currently empty. ⁱ

Functionⁱ

Catalytic activityⁱ

Kineticsⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ