Gene
PURA
purine rich element binding protein A
- HGNC 9701↗(opens in a new tab)
- Ensembl gene ENSG00000185129↗(opens in a new tab)
- NCBI Gene 5813↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.3
- Coordinates
- Chromosome 5: 140,114,109–140,125,619 (GRCh38)
- Exons
- 1 exon across 11.5 kb
- Protein
- 322 amino acids
- Also known as
- PURALPHA, PUR1, PUR-ALPHA
- MANE Select transcript
- ENST00000331327.5NM_005859.5
- 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 PURA 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 11.5 kb of the gene's 11.5 kb; 969 of those bases code for the protein.
How a genome test reads PURA
115
positions in PURA 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 11.5 kb of PURA, introns included, not only the 11.5 kb of exons.
Traits linked to PURA
The Human Phenotype Ontology lists these as features of the rare conditions PURA can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Corners of eye widely separated
- Deep philtrum
- Depressed nasal bridge
- High palate
- Limited hair on end of eyebrow
- Little lower jaw
- Myopathic facies
- Narrow forehead
Show 23 more traits
- Prominent metopic ridge
- Tented mouth
- Abnormality of baby teeth
- Abnormally small head
- Broad nasal tip
- Broad opening between the eyelids
- Decreased facial muscle tone
- Downward slanting of the opening between the eyelids
- Eye folds
- Facial asymmetry
- Frontal bossing
- Full cheeks
- High forehead
- Increased size of incisor
- Long face
- Nasal tip, upturned
- Prominent forehead
- Short nose
- Thin red part of the upper lip
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Open mouth
Abnormality of the nervous system
- Absent speech development
- Global developmental delay
- Epilepsy
- Brain degeneration
- Brain imaging abnormality
- CNS hypomyelination
- Delayed CNS myelination
- Delayed myelination
Show 19 more traits
- Delayed speech and language development
- EEG abnormality
- Intellectual disability, severe
- Motor delay
- Severe global developmental delay
- Anxiety
- Ataxia
- Bilateral tonic-clonic seizure with generalized onset
- Disorder of involuntary muscle movements
- Dystonia
- Epileptic spasm
- Exaggerated startle response
- Focal tonic seizure
- Inability to walk
- Jerking
- Short attention span
- Speech apraxia
- Wide based walk
- Intellectual disability
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.). PURA gene: purine rich element binding protein A. Retrieved 17 October 2026, from https://dantelabs.com/genes/pura
Dante Labs. PURA gene: purine rich element binding protein A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pura
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