PRUNE1
entrez
58497
canonical
uniprot
Q86TP1
canonical
ensembl
ENSG00000143363
resolver
ensp
ENSP00000271620
resolver
ensp
ENSP00000357930
resolver
ensp
ENSP00000357932
resolver
ensp
ENSP00000664839
resolver
genesymbol
PRUNE1
resolver
genesymbol_syn
PRUNE
resolver
hgnc
HGNC:13420
resolver
uniprot
B2RCH8
resolver
uniprot
B4DFL7
resolver
uniprot
Q5SZF9
resolver
uniprot
Q659E5
resolver
uniprot
Q6P4E0
resolver
uniprot
Q8N654
resolver
uniprot
Q96JU5
resolver
uniprot
Q9C071
resolver
uniprot
Q9C072
resolver
uniprot
Q9UIV0
resolver
uniprot_entry
PRUN1_HUMAN
resolver
uniprot_sec
B2RCH8
resolver
uniprot_sec
B4DFL7
resolver
uniprot_sec
Q5SZF9
resolver
uniprot_sec
Q659E5
resolver
uniprot_sec
Q6P4E0
resolver
uniprot_sec
Q8N654
resolver
uniprot_sec
Q96JU5
resolver
uniprot_sec
Q9C071
resolver
uniprot_sec
Q9C072
resolver
uniprot_sec
Q9UIV0
resolver
activity_regulation
ACTIVITY REGULATION: Phosphodiesterase activity is activated by magnesium ions and inhibited by manganese ions. Phosphodiesterase activity is inhibited by dipyridamole, moderately sensitive to IBMX and inhibited by vinpocetine. {ECO:0000269|PubMed:14998490}.
uniprot
proteins
amino_acid_sequence
MEDYLQGCRAALQESRPLHVVLGNEACDLDSTVSALALAFYLAKTTEAEEVFVPVLNIKRSELPLRGDIVFFLQKVHIPESILIFRDEIDLHALYQAGQLTLILVDHHILSKSDTALEEAVAEVLDHRPIEPKHCPPCHVSVELVGSCATLVTERILQGAPEILDRQTAALLHGTIILDCVNMDLKIGKATPKDSKYVEKLEALFPDLPKRNDIFDSLQKAKFDVSGLTTEQMLRKDQKTIYRQGVKVAISAIYMDLEAFLQRSNLLADLHAFCQAHSYDVLVAMTIFFNTHNEPVRQLAIFCPHVALQTTICEVLERSHSPPLKLTPASSTHPNLHAYLQGNTQVSRKKLLPLLQEALSAYFDSMKIPSGQPETADVSREQVDKELDRASNSLISGLSQDEEDPPLPPTPMNSLVDECPLDQGLPKLSAEAVFEKCSQISLSQSTTASLSKK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]: An 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. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:28211990, ECO:0000269|PubMed:28334956}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.14
uniprot
proteins
ec_number
3.6.1.25
uniprot
proteins
function
FUNCTION: Exopolyphosphatase that catalyzes the hydrolysis of inorganic polyphosphates, with preference for short-chain substrates, as well as nucleoside 5'-tetraphosphates, releasing terminal phosphate residues (PubMed:18700747). Also exhibits phosphodiesterase activity toward cyclic nucleotides, hydrolyzing cAMP and cGMP to their corresponding 5'-monophosphates (PubMed:14998490, PubMed:17655525). Requires divalent metal ions for activity (PubMed:14998490, PubMed:18700747). Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1 (PubMed:10602478, PubMed:11687967, PubMed:14998490, PubMed:16428445, PubMed:17906697). Plays a role in the regulation of neurogenesis. Involved in the regulation of microtubule polymerization (PubMed:28334956). {ECO:0000269|PubMed:10602478, ECO:0000269|PubMed:11687967, ECO:0000269|PubMed:14998490, ECO:0000269|PubMed:16428445, ECO:0000269|PubMed:17655525, ECO:0000269|PubMed:17906697, ECO:0000269|PubMed:18700747, ECO:0000269|PubMed:28334956}.
uniprot
proteins
mass_dalton
50200
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="N->H: Loss of triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:18700747"; MUTAGEN 28; /note="D->A: Partial loss of cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-106. Partial loss of cAMPPDE activity; when associated with D-106 and D-179. Loss of triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:14998490, ECO:0000269|PubMed:18700747"; MUTAGEN 106; /note="D->A: No change in cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-28. Partial loss of cAMPPDE activity; when associated with D-28 and D-179. Reduced triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:14998490, ECO:0000269|PubMed:18700747"; MUTAGEN 107; /note="H->N: Reduced triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:18700747"; MUTAGEN 108; /note="H->N: Reduced triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:18700747"; MUTAGEN 126..129; /note="DHRP->AAAA: Partial loss of cAMPPDE activity."; /evidence="ECO:0000269|PubMed:14998490"; MUTAGEN 128; /note="R->H: Impaired triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:18700747"; MUTAGEN 179; /note="D->A: Partial loss of cAMPPDE activity. Partial loss of cAMPPDE activity; when associated with D-28 and D-106. Loss of triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:14998490, ECO:0000269|PubMed:18700747"; MUTAGEN 348; /note="R->A: Loss of triphosphate exopolyphosphatase activity."; /evidence="ECO:0000269|PubMed:18700747
uniprot
proteins
protein_family
PPase class C family
uniprot
proteins
protein_family
Prune subfamily
uniprot
proteins
pubmed
10524757
uniprot
proteins
pubmed
10602478
uniprot
proteins
pubmed
11687967
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14998490
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15671547
uniprot
proteins
pubmed
16428445
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17655525
uniprot
proteins
pubmed
17906697
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18700747
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
26539891
uniprot
proteins
pubmed
28211990
uniprot
proteins
pubmed
28334956
uniprot
proteins
pubmed
37316325
uniprot
proteins
sequence_length
453
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell junction, focal adhesion. Note=In some transfected cells a nuclear staining is also observed.
uniprot
proteins