Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Prom1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 26, 2009. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Prom1
  • is located in the following cellular components:
    • apical plasma membrane ^[1]
    • brush border ^[6]
    • cell projection ^{[3, 5]}
    • cell surface ^[3]
    • extracellular space ^[4]
    • integral to plasma membrane ^[6]
    • microvillus ^{[4, 6]}
    • photoreceptor outer segment ^[7]
    • prominosome ^{[2, 4]}
    • stereocilium ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Prom1
  • participates in the following biological processes:
    • camera-type eye photoreceptor cell differentiation ^[7]
    • retina layer formation ^[7]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Prom1:
  • participates in the following biological processes:
    • camera-type eye photoreceptor cell differentiation
    • glomerular parietal epithelial cell differentiation
    • glomerular visceral epithelial cell differentiation
    • photoreceptor cell maintenance
    • positive regulation of nephron tubule epithelial cell differentiation
    • retina morphogenesis in camera-type eye
  • performs the following molecular functions:
    • actinin binding
    • cadherin binding
  • is located in the following cellular components:
    • cell surface
    • photoreceptor outer segment membrane
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Prom1 encodes a protein or proteins that contain the following InterPro domains: Prominin, indicating that the gene product:
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Prom1 indicates that it:
  • is located in the following cellular components:
    • cilium
    • integral to membrane
    • membrane

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References

1. Cappello S et al. (2006) The Rho-GTPase cdc42 regulates neural progenitor fate at the apical surface. Nat Neurosci, 9:1099-107. (PubMed:16892058)
2. Dubreuil V et al. (2007) Midbody and primary cilium of neural progenitors release extracellular membrane particles enriched in the stem cell marker prominin-1. J Cell Biol, 176:483-95. (PubMed:17283184)
3. Fargeas CA et al. (2004) Identification of novel Prominin-1/CD133 splice variants with alternative C-termini and their expression in epididymis and testis. J Cell Sci, 117:4301-11. (PubMed:15316084)
4. Marzesco AM et al. (2005) Release of extracellular membrane particles carrying the stem cell marker prominin-1 (CD133) from neural progenitors and other epithelial cells. J Cell Sci, 118:2849-58. (PubMed:15976444)
5. Maw MA et al. (2000) A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet, 9:27-34. (PubMed:10587575)
6. Weigmann A et al. (1997) Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cells. Proc Natl Acad Sci U S A, 94:12425-30. (PubMed:9356465)
7. Zacchigna S et al. (2009) Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. J Neurosci, 29:2297-308. (PubMed:19228982)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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