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Gene

PROM1

prominin 1

Summary

Cytogenetic location
4p15.32
Coordinates
Chromosome 4: 15,968,228–16,084,023 (GRCh38)
Exons
28 exons across 115.8 kb
Protein
865 amino acids
Inheritance
Autosomal dominant
Also known as
AC133, CD133, RP41, CORD12
Previous symbols
PROML1, MCDR2, STGD4
MANE Select transcript
ENST00000447510.7NM_006017.3
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 reports relevant to this gene

  • Stargardt Disease

    • PROM1-Related Dominant RetinopathyAutosomal dominant

      A dominant Stargardt-like macular dystrophy caused by changes in PROM1.

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

Broader groupings

  • Retinitis Pigmentosa

    • 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.

      • 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 PROM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where PROM1 sits. PROM1 and 9 genes near it on chromosome 4, from 15,526,126 to 16,526,125.Chromosome 44p15.32p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.215.6 Mb15.8 Mb16 Mb16.2 Mb16.4 MbCC2D2A: 15,469,865–15,602,097, forward strandCC2D2AFBXL5: 15,569,541–15,681,679, reverse strandFBXL5ZBED11: 15,681,506–15,690,447, forward strandZBED11BST1: 15,702,993–15,775,614, forward strandBST1CD38: 15,778,275–15,853,232, forward strandCD38FGFBP1: 15,934,507–15,948,427, reverse strandFGFBP1FGFBP2: 15,960,245–15,969,309, reverse strandFGFBP2PROM1: 15,968,228–16,084,023, reverse strandPROM1TAPT1: 16,160,505–16,227,606, reverse strandTAPT1LDB2: 16,501,534–16,898,961, reverse strandLDB2Diagram of PROM1: 28 exons on the reverse strand of chromosome 4Exon 24: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 28: 15,968,228–15,969,368, 1,141 basesExon 27: 15,971,043–15,971,082, 40 basesExon 26: 15,979,395–15,979,463, 69 basesExon 25: 15,979,881–15,979,904, 24 basesExon 24: 15,980,422–15,980,537, 116 basesExon 23: 15,984,263–15,984,355, 93 basesExon 22: 15,985,760–15,985,828, 69 basesExon 21: 15,985,957–15,986,037, 81 basesExon 20: 15,987,663–15,987,716, 54 basesExon 19: 15,989,732–15,989,824, 93 basesExon 18: 15,991,222–15,991,293, 72 basesExon 17: 15,992,248–15,992,391, 144 basesExon 16: 15,993,987–15,994,071, 85 basesExon 15: 15,998,385–15,998,488, 104 basesExon 14: 16,000,496–16,000,619, 124 basesExon 13: 16,006,538–16,006,690, 153 basesExon 12: 16,008,949–16,009,108, 160 basesExon 11: 16,013,275–16,013,338, 64 basesExon 10: 16,016,166–16,016,240, 75 basesExon 9: 16,018,323–16,018,540, 218 basesExon 8: 16,023,326–16,023,415, 90 basesExon 7: 16,024,295–16,024,358, 64 basesExon 6: 16,025,192–16,025,312, 121 basesExon 5: 16,033,304–16,033,509, 206 basesExon 4: 16,035,735–16,035,761, 27 basesExon 3: 16,038,946–16,039,001, 56 basesExon 2: 16,075,687–16,076,118, 432 basesExon 1: 16,083,978–16,084,023, 46 bases2825201510515′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 kb of the gene's 115.8 kb; 2,598 of those bases code for the protein.

How a genome test reads PROM1

59

positions in PROM1 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 115.8 kb of PROM1, introns included, not only the 4 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.). PROM1 gene: prominin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/prom1

Vancouver

Dante Labs. PROM1 gene: prominin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prom1

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