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Gene

RPGRIP1

RPGR interacting protein 1

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 21,280,083–21,351,301 (GRCh38)
Exons
25 exons across 71.2 kb
Protein
1,286 amino acids
Inheritance
Autosomal recessive
Also known as
RGI1, LCA6, CORD13
Previous symbols
RPGRIP
MANE Select transcript
ENST00000400017.7NM_020366.4
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

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Inheritance

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 RPGRIP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where RPGRIP1 sits. RPGRIP1 and 24 genes near it on chromosome 14, from 20,815,692 to 21,815,691.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3321 Mb21.2 Mb21.4 Mb21.6 Mb21.8 MbRNASE3: 20,882,394–20,892,348, forward strandRNASE3RNASE2: 20,955,345–20,956,436, forward strandRNASE2METTL17: 20,989,775–20,997,035, forward strandSLC39A2: 20,999,255–21,001,871, forward strandNDRG2: 21,016,584–21,071,094, reverse strandTPPP2: 21,024,086–21,036,276, forward strandTPPP2RNASE13: 21,032,818–21,034,807, reverse strandRNASE7: 21,042,316–21,044,234, forward strandRNASE8: 21,057,822–21,058,455, forward strandRNASE8ARHGEF40: 21,069,626–21,090,269, forward strandARHGEF40ZNF219: 21,089,468–21,104,722, reverse strandZNF219TMEM253: 21,098,811–21,103,724, forward strandTMEM253OR5AU1: 21,148,370–21,159,060, reverse strandOR5AU1HNRNPC: 21,207,375–21,269,792, reverse strandHNRNPCRPGRIP1: 21,280,083–21,351,301, forward strandRPGRIP1SUPT16H: 21,351,289–21,384,042, reverse strandSUPT16HCHD8: 21,385,194–21,456,126, reverse strandCHD8RAB2B: 21,458,704–21,476,973, reverse strandRAB2BTOX4: 21,476,597–21,504,234, forward strandTOX4METTL3: 21,498,127–21,511,430, reverse strandMETTL3SALL2: 21,521,080–21,537,230, reverse strandSALL2OR10G3: 21,568,520–21,580,076, reverse strandOR10G3OR10G2: 21,633,836–21,634,940, reverse strandOR10G2OR4E2: 21,653,835–21,667,642, forward strandOR4E2OR4E1: 21,667,886–21,673,818, reverse strandOR4E1Diagram of RPGRIP1: 25 exons on the forward strand of chromosome 14Exon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 5 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 15: 13 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 17: 12 known disease-causing sitesExon 18: 6 known disease-causing sitesExon 19: 8 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 22: 6 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 4 known disease-causing sitesExon 25: 1 known disease-causing siteExon 1: 21,280,083–21,280,159, 77 basesExon 2: 21,287,939–21,288,061, 123 basesExon 3: 21,294,677–21,294,809, 133 basesExon 4: 21,300,966–21,301,237, 272 basesExon 5: 21,302,488–21,302,584, 97 basesExon 6: 21,303,331–21,303,543, 213 basesExon 7: 21,307,731–21,307,836, 106 basesExon 8: 21,310,584–21,310,607, 24 basesExon 9: 21,311,824–21,311,970, 147 basesExon 10: 21,312,433–21,312,506, 74 basesExon 11: 21,317,696–21,317,850, 155 basesExon 12: 21,320,017–21,320,177, 161 basesExon 13: 21,321,259–21,321,402, 144 basesExon 14: 21,321,854–21,322,004, 151 basesExon 15: 21,324,618–21,325,070, 453 basesExon 16: 21,325,232–21,325,383, 152 basesExon 17: 21,325,831–21,326,173, 343 basesExon 18: 21,327,623–21,327,807, 185 basesExon 19: 21,328,424–21,328,627, 204 basesExon 20: 21,330,249–21,330,387, 139 basesExon 21: 21,334,605–21,334,705, 101 basesExon 22: 21,343,036–21,343,228, 193 basesExon 23: 21,345,113–21,345,197, 85 basesExon 24: 21,348,172–21,348,302, 131 basesExon 25: 21,351,104–21,351,301, 198 bases124681012141618202224255′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 4.1 kb of the gene's 71.2 kb; 3,861 of those bases code for the protein.

How a genome test reads RPGRIP1

144

positions in RPGRIP1 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 71.2 kb of RPGRIP1, introns included, not only the 4.1 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.). RPGRIP1 gene: RPGR interacting protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rpgrip1

Vancouver

Dante Labs. RPGRIP1 gene: RPGR interacting protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rpgrip1

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