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Gene : PROM1 Homo sapiens

Name  ? prominin 1 Cytological Location  4p15.32
Brief Description  prominin 1
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
  • synonyms:
  • PROM1,
  • OTTHUMG00000160180,
  • prominin (mouse)-like 1,
  • CORD12,
  • RP41,
  • AC133,
  • RP41,
  • AF027208,
  • AC133,
  • CORD12,
  • Stargardt disease 4 (autosomal dominant),
  • MCDR2,
  • uc062vja.1,
  • HGNC:9454,
  • macular dystrophy, retinal 2,
  • MCDR2,
  • PROML1,
  • MSTP061,
  • STGD4,
  • CD133,
  • NM_006017,
  • CD133,
  • PROML1,
  • STGD4
  • identifiers:
  • 8842,
  • ENSG00000007062,
  • PROM1

Genome feature

Region: gene ? Length: 115834  
Location: 4:15968226-16084059 reverse strand Cyto location: 4p15.32

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3756 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results