Prominin 1

Alternative Names

  • PROM1
  • Prominin, Mouse, Homolog-Like 1
  • PROML1
  • AC133
  • CD133 Antigen
  • CD133

Associated Diseases

Retinitis Pigmentosa 41
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OMIM Number

604365

NCBI Gene ID

8842

Uniprot ID

O43490

Length

115,796 bases

No. of Exons

34

No. of isoforms

7

Protein Name

Prominin-1

Molecular Mass

97202 Da

Amino Acid Count

865

Genomic Location

chr4:15,968,228-16,084,023

Gene Map Locus
4p15.32

Description

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006017.3:c.2130+2delSaudi ArabiaNC_000004.12:g.15987661delLikely Pathogenic, PathogenicPathogenicRetinitis Pigmentosa 41NG_011696.2:g.101399del; NM_006017.3:c.2130+2del; NP_006008.1:p.?768303070941626
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