Gene
POLR1A
RNA polymerase I subunit A
- HGNC 17264↗(opens in a new tab)
- Ensembl gene ENSG00000068654↗(opens in a new tab)
- NCBI Gene 25885↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p11.2
- Coordinates
- Chromosome 2: 86,020,216–86,105,886 (GRCh38)
- Exons
- 34 exons across 85.7 kb
- Protein
- 1,720 amino acids
- Also known as
- DKFZP586M0122, FLJ21915, RPO1-4, RPA1, RPA190
- MANE Select transcript
- ENST00000263857.11NM_015425.6
- 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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No Genome Test report reads POLR1A yet. The test sequences your whole genome, so your data includes it all the same.
How POLR1A 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 12.5 kb of the gene's 85.7 kb; 5,163 of those bases code for the protein.
How a genome test reads POLR1A
5
positions in POLR1A 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 85.7 kb of POLR1A, introns included, not only the 12.5 kb of exons.
Traits linked to POLR1A
The Human Phenotype Ontology lists these as features of the rare conditions POLR1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Aqueductal stenosis
- Babinski sign
- Cavum septum pellucidum
- CNS hypomyelination
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed ability to walk
- Dystonia
Show 27 more traits
- Epilepsy
- Epileptic encephalopathy
- Fluid-filled cyst in spinal cord
- Global developmental delay
- Inability to move vocal cords
- Increased reflexes
- Instability or lack of coordination of central trunk muscles
- Intellectual disability
- Jerking
- Laryngeal dystonia
- Leukodystrophy
- Loss of ability to walk
- Mild global developmental delay
- Motor delay
- Sudden loss of muscle tone
- Thin corpus callosum
- Too much cerebrospinal fluid in the brain
- Absent speech development
- Brain imaging abnormality
- Head titubation
- Loss of developmental milestones
- Ventriculomegaly
- Abnormality of coordination
- Atrophy/Degeneration affecting the brainstem
- Inability to coordinate movements when walking
- Infantile spasms
- Irritability
Abnormality of head or neck
- Bilateral blockage of the rear opening of the nasal cavity
- Broad forehead
- Broad opening between the eyelids
- Cranial defect
- Dandy-Walker malformation
- Depressed nasal bridge
- Eye folds
- High palate
Show 26 more traits
- Median pseudocleft lip
- Nasal tip, upturned
- Short nose
- Thick eyebrow
- Upward slanting of the opening between the eyelids
- Short opening between the eyelids
- Abnormally small head
- Absent eyelids
- Aplastic zygomatic arch
- Blockage of the rear opening of the nasal cavity
- Cleft lower eyelid
- Cleft palate
- Cleft upper eyelid
- Decreased size of maxilla
- Downward slanting of the opening between the eyelids
- Little lower jaw
- Midface retrusion
- Prominent nasal bridge
- Receding chin
- Relatively large head
- Abnormality of the palate
- Cleft lip
- Facial asymmetry
- Failure of development of between one and six teeth
- Metopic synostosis
- Wide nasal bridge
Abnormality of the cardiovascular system
- Anomalous origin of right coronary artery from the pulmonary artery
- Aortic valve has two leaflets rather than three
- Biventricular hypertrophy
- Bulge in wall of large artery that carries blood away from heart
- Cleft anterior mitral valve leaflet
- Narrowing of lung artery
- Partial atrioventricular canal defect
- Pulmonary artery aneurysm
Abnormality of the eye
- Deeply set eye
- Duane anomaly
- Wide-set eyes
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Supranuclear gaze palsy
- Abnormality of the eye
- Abnormality of vision
Show 3 more traits
Abnormality of the musculoskeletal system
- Diaphragmatic eventration
- Double-Jointed
- Involuntary muscle stiffness, contraction, or spasm
- Lower limb spasticity
- Poor head control
- Scoliosis
- Spasticity and rigidity of muscles
- Low muscle tone
Show 1 more trait
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.). POLR1A gene: RNA polymerase I subunit A. Retrieved 17 October 2026, from https://dantelabs.com/genes/polr1a
Dante Labs. POLR1A gene: RNA polymerase I subunit A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polr1a
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