Gene
PRUNE1
prune exopolyphosphatase 1
- HGNC 13420↗(opens in a new tab)
- Ensembl gene ENSG00000143363↗(opens in a new tab)
- NCBI Gene 58497↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.3
- Coordinates
- Chromosome 1: 151,008,449–151,035,713 (GRCh38)
- Exons
- 8 exons across 27.3 kb
- Protein
- 453 amino acids
- Also known as
- DRES-17, HTCD37, H-PRUNE
- Previous symbols
- PRUNE
- MANE Select transcript
- ENST00000271620.8NM_021222.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How PRUNE1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 27.3 kb; 1,362 of those bases code for the protein.
How a genome test reads PRUNE1
8
positions in PRUNE1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 27.3 kb of PRUNE1, introns included, not only the 3 kb of exons.
Traits linked to PRUNE1
The Human Phenotype Ontology lists these as features of the rare conditions PRUNE1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Inability to walk
- IQ less than 20
- Profound global developmental delay
- Global developmental delay
- Increased reflexes
- Intellectual disability, severe
- Abnormal cerebral white matter morphology
Show 12 more traits
- Clonus
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed CNS myelination
- Delayed myelination
- EEG abnormality
- Epilepsy
- Myoclonic seizure
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Epileptic spasm
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PRUNE1 gene: prune exopolyphosphatase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/prune1
Dante Labs. PRUNE1 gene: prune exopolyphosphatase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prune1
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