Gene
RPA1
replication protein A1
- HGNC 10289↗(opens in a new tab)
- Ensembl gene ENSG00000132383↗(opens in a new tab)
- NCBI Gene 6117↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.3
- Coordinates
- Chromosome 17: 1,830,005–1,900,082 (GRCh38)
- Exons
- 17 exons across 70.1 kb
- Protein
- 616 amino acids
- Also known as
- REPA1, RPA70, HSSB, RF-A, RP-A
- MANE Select transcript
- ENST00000254719.10NM_002945.5
- 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.
Read RPA1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Dyskeratosis Congenita
- Telomere syndromes
Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.
Familial Pulmonary Fibrosis
- Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure
Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.
How RPA1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 4.8 kb of the gene's 70.1 kb; 1,851 of those bases code for the protein.
Genes linked to the same conditions
- NAF1nuclear assembly factor 1 ribonucleoproteinShares 2 conditions
- PARNpoly(A)-specific ribonucleaseShares 2 conditions
- POT1protection of telomeres 1Shares 2 conditions
- RTEL1regulator of telomere elongation helicase 1Shares 2 conditions
- TERTtelomerase reverse transcriptaseShares 2 conditions
- ZCCHC8zinc finger CCHC-type containing 8Shares 2 conditions
- ACDACD shelterin complex subunit and telomerase recruitment factorShares 1 condition
- CDCA7cell division cycle associated 7Shares 1 condition
- CTC1CST telomere replication complex component 1Shares 1 condition
- DNMT3BDNA methyltransferase 3 betaShares 1 condition
- HELLShelicase, lymphoid specificShares 1 condition
- POLA2DNA polymerase alpha 2, accessory subunitShares 1 condition
Traits linked to RPA1
The Human Phenotype Ontology lists these as features of the rare conditions RPA1 can cause. Each trait's page lists the other genes linked to it.
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). RPA1 gene: replication protein A1. Retrieved 16 October 2026, from https://dantelabs.com/genes/rpa1
Dante Labs. RPA1 gene: replication protein A1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rpa1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks