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Gene

RSPO1

R-spondin 1

Summary

Cytogenetic location
1p34.3
Coordinates
Chromosome 1: 37,611,350–37,634,892 (GRCh38)
Exons
7 exons across 23.5 kb
Protein
263 amino acids
Also known as
FLJ40906, RSPONDIN
MANE Select transcript
ENST00000356545.7NM_001242908.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • 46,XX Differences of Sex Development

    • Conditions including XX testicular and ovotesticular differences of sex development, most often caused by a translocated SRY gene or changes at SOX9 or SOX3, and less often by variants in NR5A1, RSPO1 or WNT4.

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

      Diagnosis explains azoospermia, informs hormone management, and in RSPO1-related disease prompts skin cancer surveillance.

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

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

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

How RSPO1 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 RSPO1 sits. RSPO1 and 17 genes near it on chromosome 1, from 37,123,121 to 38,123,120.Chromosome 11p34.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4437.2 Mb37.4 Mb37.6 Mb37.8 Mb38 MbZC3H12A: 37,474,496–37,484,379, forward strandZC3H12AMEAF6: 37,489,993–37,515,100, reverse strandMEAF6SNIP1: 37,534,449–37,554,304, reverse strandSNIP1DNALI1: 37,556,918–37,566,857, forward strandDNALI1GNL2: 37,565,881–37,595,955, reverse strandGNL2RSPO1: 37,611,350–37,634,892, reverse strandRSPO1AIRIM: 37,681,570–37,692,296, reverse strandAIRIMCDCA8: 37,692,473–37,709,719, forward strandCDCA8EPHA10: 37,713,880–37,765,155, reverse strandEPHA10MANEAL: 37,793,788–37,804,745, forward strandMANEALYRDC: 37,802,945–37,808,216, reverse strandYRDCC1orf122: 37,806,979–37,809,886, forward strandC1orf122MTF1: 37,809,574–37,859,614, reverse strandMTF1INPP5B: 37,860,696–37,947,241, reverse strandINPP5BSF3A3: 37,956,975–37,990,681, reverse strandSF3A3FHL3: 37,994,394–38,006,380, reverse strandFHL3UTP11: 38,009,111–38,024,828, forward strandUTP11POU3F1: 38,043,829–38,046,793, reverse strandPOU3F1Diagram of RSPO1: 7 exons on the reverse strand of chromosome 1Exon 4: 1 known disease-causing siteExon 7: 37,611,350–37,612,921, 1,572 basesExon 6: 37,613,704–37,613,892, 189 basesExon 5: 37,614,184–37,614,333, 150 basesExon 4: 37,616,484–37,616,675, 192 basesExon 3: 37,629,568–37,629,949, 382 basesExon 2: 37,632,287–37,632,353, 67 basesExon 1: 37,634,566–37,634,892, 327 bases76543215′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 2.9 kb of the gene's 23.5 kb; 792 of those bases code for the protein.

How a genome test reads RSPO1

1

position in RSPO1 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 23.5 kb of RSPO1, introns included, not only the 2.9 kb of exons.

Genes linked to the same conditions

Traits linked to RSPO1

The Human Phenotype Ontology lists these as features of the rare conditions RSPO1 can cause. Each trait's page lists the other genes linked to it.

External links

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.). RSPO1 gene: R-spondin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rspo1

Vancouver

Dante Labs. RSPO1 gene: R-spondin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rspo1

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