Skip to content
Use your HSA or FSA funds

Gene

RP1

RP1 axonemal microtubule associated

Summary

Cytogenetic location
8q11.23-q12.1
Coordinates
Chromosome 8: 54,616,096–54,630,834 (GRCh38)
Exons
4 exons across 14.7 kb
Protein
2,156 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
DCDC4A, ORP1
MANE Select transcript
ENST00000220676.2NM_006269.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Retinitis Pigmentosa

    • RP1-Related Recessive RetinopathyAutosomal recessive

      A retinal dystrophy caused by changes in the RP1 gene.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • RP1-Related Dominant RetinopathyAutosomal dominant

      A retinal dystrophy caused by changes in the RP1 gene.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where RP1 sits. RP1 and 3 genes near it on chromosome 8, from 54,123,465 to 55,123,464.Chromosome 88q11.23-q12.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.354.2 Mb54.4 Mb54.6 Mb54.8 Mb55 MbMRPL15: 54,135,183–54,149,588, forward strandMRPL15SOX17: 54,457,928–54,462,314, forward strandSOX17RP1: 54,616,096–54,630,834, forward strandRP1XKR4: 55,102,028–55,542,054, forward strandXKR4Diagram of RP1: 4 exons on the forward strand of chromosome 8Exon 2: 11 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 110 known disease-causing sitesExon 1: 54,616,096–54,616,202, 107 basesExon 2: 54,620,955–54,621,581, 627 basesExon 3: 54,622,117–54,622,288, 172 basesExon 4: 54,624,670–54,630,834, 6,165 bases12345′3′

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 7.1 kb of the gene's 14.7 kb; 6,471 of those bases code for the protein.

How a genome test reads RP1

134

positions in RP1 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 14.7 kb of RP1, introns included, not only the 7.1 kb of exons.

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.
  • 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

APA

Dante Labs. (n.d.). RP1 gene: RP1 axonemal microtubule associated. Retrieved 17 October 2026, from https://dantelabs.com/genes/rp1

Vancouver

Dante Labs. RP1 gene: RP1 axonemal microtubule associated [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rp1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test