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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 metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PRUNE1 (Prune Exopolyphosphatase 1) is a Protein Coding gene. Diseases associated with PRUNE1 include Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies and Prune Belly Syndrome. Among its related pathways are Metabolism and Metabolism of nucleotides.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0004309 | exopolyphosphatase activity | IBA | 21873635 |
GO:0004427 | inorganic diphosphatase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 10602478 |
GO:0015631 | tubulin binding | IDA | 28334956 |
GO:0016462 | pyrophosphatase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IDA | -- |
GO:0005925 | focal adhesion | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism | ||
2 | Metabolism of nucleotides |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006798 | polyphosphate catabolic process | IBA | 21873635 |
GO:0016311 | dephosphorylation | IEA | -- |
GO:0031113 | regulation of microtubule polymerization | IMP | 28334956 |
GO:0050767 | regulation of neurogenesis | IMP | 28334956 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Guanosine 3',5'-bis(diphosphate) |
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Guanosine 3'-diphosphate 5'-triphosphate |
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Phosphate |
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14066-19-4, 14265-44-2 |
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pyrophosphate |
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14000-31-8 |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Dog (Canis familiaris) |
Mammalia | PRUNE 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRUNE 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | Prune 30 31 |
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OneToOne | |
Prune1 17 |
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Rat (Rattus norvegicus) |
Mammalia | Prune 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | PRUNE 31 |
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OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PRUNE 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PRUNE 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PRUNE 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prune 30 |
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Str.16711 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.14865 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC563343 30 |
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prune 31 |
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OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | pn 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004314 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PPX1 30 31 33 |
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OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL083W 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B03806g 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC2F3.11 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU06310 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
767697 | Benign: not provided | 151,024,679(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
813906 | Uncertain Significance: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 151,017,887(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1057521927 | Likely Pathogenic: Abnormality of brain morphology; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; not provided. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] | 151,017,860(+) | G/Ap.Asp30Asn | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1085308033 | Pathogenic: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481] | 151,018,494(+) | C/Ap.Pro54Thr | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs137929776 | Pathogenic/Likely Pathogenic: not provided | 151,018,530(+) | C/T | NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
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nsv1127030 | CNV | deletion | 24896259 |
nsv522840 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
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neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
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prune belly syndrome |
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microcephaly |
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potter's syndrome |
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ureterocele |
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