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Gene

RPL5

ribosomal protein L5

Summary

Cytogenetic location
1p22.1
Coordinates
Chromosome 1: 92,832,040–92,841,924 (GRCh38)
Exons
8 exons across 9.9 kb
Protein
297 amino acids
Inheritance
Autosomal dominant
Also known as
L5, PPP1R135, uL18
MANE Select transcript
ENST00000370321.8NM_000969.5
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

  • Diamond-Blackfan Anemia

    • Autosomal dominant

      A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

      • ClinGen rates the link definitive
      • 3 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.

How RPL5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where RPL5 sits. RPL5 and 7 genes near it on chromosome 1, from 92,336,982 to 93,336,981.Chromosome 11p22.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4492.4 Mb92.6 Mb92.8 Mb93 Mb93.2 MbRPAP2: 92,299,010–92,438,687, forward strandRPAP2GFI1: 92,472,360–92,486,925, reverse strandGFI1EVI5: 92,508,696–92,792,424, reverse strandEVI5DIPK1A: 92,830,514–92,961,522, reverse strandDIPK1ARPL5: 92,832,040–92,841,924, forward strandRPL5TMED5: 93,054,822–93,181,131, reverse strandTMED5MTF2: 93,079,235–93,139,871, forward strandMTF2CCDC18: 93,179,758–93,279,048, forward strandCCDC18Diagram of RPL5: 8 exons on the forward strand of chromosome 1Exon 1: 3 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 1 known disease-causing siteExon 1: 92,832,040–92,832,117, 78 basesExon 2: 92,833,389–92,833,458, 70 basesExon 3: 92,833,545–92,833,660, 116 basesExon 4: 92,834,779–92,834,913, 135 basesExon 5: 92,836,190–92,836,392, 203 basesExon 6: 92,837,456–92,837,633, 178 basesExon 7: 92,840,551–92,840,639, 89 basesExon 8: 92,841,766–92,841,924, 159 bases123456785′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 1 kb of the gene's 9.9 kb; 894 of those bases code for the protein.

How a genome test reads RPL5

67

positions in RPL5 where ClinVar classes a change as pathogenic or likely pathogenic

11 of them (16%) fall in regions short reads find hard.

  • Low mappability (11 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 9.9 kb of RPL5, introns included, not only the 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.). RPL5 gene: ribosomal protein L5. Retrieved 17 October 2026, from https://dantelabs.com/genes/rpl5

Vancouver

Dante Labs. RPL5 gene: ribosomal protein L5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rpl5

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