help  | about  | cite  | software

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:
  • uc062vja.1,
  • STGD4,
  • CORD12,
  • PROML1,
  • MCDR2,
  • OTTHUMG00000160180,
  • PROM1,
  • MCDR2,
  • CD133,
  • Stargardt disease 4 (autosomal dominant),
  • STGD4,
  • NM_006017,
  • RP41,
  • CORD12,
  • MSTP061,
  • PROML1,
  • AF027208,
  • AC133,
  • CD133,
  • prominin (mouse)-like 1,
  • AC133,
  • HGNC:9454,
  • macular dystrophy, retinal 2,
  • RP41
  • identifiers:
  • 8842,
  • ENSG00000007062,
  • PROM1

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

431 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results