PRUNE1
Exopolyphosphatase PRUNE1
Also known as: DRES-17, H-PRUNE, HTCD37, PRUN1_HUMAN, PRUNE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86TP1
- Gene
- PRUNE1
- Ensembl
- ENSG00000143363
- Chromosome
- 1
- Canonical length
- 453 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
453 residues, UniProt reviewed canonical sequence.
>Q86TP1|PRUNE1
1 MEDYLQGCRA ALQESRPLHV VLGNEACDLD STVSALALAF YLAKTTEAEE VFVPVLNIKR
61 SELPLRGDIV FFLQKVHIPE SILIFRDEID LHALYQAGQL TLILVDHHIL SKSDTALEEA
121 VAEVLDHRPI EPKHCPPCHV SVELVGSCAT LVTERILQGA PEILDRQTAA LLHGTIILDC
181 VNMDLKIGKA TPKDSKYVEK LEALFPDLPK RNDIFDSLQK AKFDVSGLTT EQMLRKDQKT
241 IYRQGVKVAI SAIYMDLEAF LQRSNLLADL HAFCQAHSYD VLVAMTIFFN THNEPVRQLA
301 IFCPHVALQT TICEVLERSH SPPLKLTPAS STHPNLHAYL QGNTQVSRKK LLPLLQEALS
361 AYFDSMKIPS GQPETADVSR EQVDKELDRA SNSLISGLSQ DEEDPPLPPT PMNSLVDECP
421 LDQGLPKLSA EAVFEKCSQI SLSQSTTASL SKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRUNE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 31 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 31 nTPM
- thyroid gland: 31 nTPM
- skeletal muscle: 28 nTPM
- tongue: 20 nTPM
- parathyroid gland: 20 nTPM
- testis: 18 nTPM
Single-cell type
- platelets: 178 nCPM
- late spermatids: 99 nCPM
- early spermatids: 82 nCPM
- megakaryocytes: 74 nCPM
- cone photoreceptor cells: 50 nCPM
- renal collecting duct intercalated cells: 37 nCPM
Immune cell
- total PBMC: 22 nTPM
- naive CD4 T-cell: 22 nTPM
- MAIT T-cell: 20 nTPM
- basophil: 19 nTPM
- NK-cell: 19 nTPM
- memory CD8 T-cell: 19 nTPM
Brain region
- cerebellum: 23 nTPM
- white matter: 17 nTPM
- hypothalamus: 17 nTPM
- cerebral cortex: 16 nTPM
- choroid plexus: 16 nTPM
- midbrain: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRUNE1.
Disease | AllUniProt
Conditions PRUNE1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) MIM:617481
Disease | GeneticClinVar
27 pathogenic / likely-pathogenic of 148 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.66
- gnomAD pLI
- 0.01
- DepMap mean gene effect
- -0.33
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 19% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- inorganic diphosphate phosphatase activity
- metal ion binding
- phosphatase activity
- tubulin binding
- exopolyphosphatase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DHHA2 domain
- DHHA2 domain superfamily
- DHH phosphoesterase superfamily
- DHHA2 domain
- DDH domain
- DHH family, N-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PRUNE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PRUNE1 as an antibody target. Whether an autoantibody or antibody against PRUNE1 could matter depends on whether native PRUNE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRUNE1 is annotated at the cell surface, where native PRUNE1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PRUNE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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