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

GO curators for mouse genes have assigned the following annotations to the gene product of Leprel1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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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 member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

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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 Leprel1
  • is located in the following cellular components:
    • basement membrane ^[1]

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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 Leprel1:
  • participates in the following biological processes:
    • collagen metabolic process
    • negative regulation of cell proliferation
    • oxidation-reduction process
    • peptidyl-proline hydroxylation
  • performs the following molecular functions:
    • procollagen-proline 3-dioxygenase activity
  • is located in the following cellular components:
    • endoplasmic reticulum
    • Golgi apparatus

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Summary text based on GO annotations supported by structural data

• Leprel1 encodes a protein or proteins that contain the following InterPro domains: Oxoglutarate/iron-dependent dioxygenase, Prolyl 4-hydroxylase, alpha subunit, Tetratricopeptide TPR2, Tetratricopeptide-like helical, indicating that the gene product:
  • performs the following molecular functions:
    • iron ion binding
    • L-ascorbic acid binding
    • oxidoreductase activity
    • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
    • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Leprel1 indicates that it:
  • performs the following molecular functions:
    • L-ascorbic acid binding
    • metal ion binding
    • oxidoreductase activity
    • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen

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References

1. Tiainen P et al. (2008) Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV. J Biol Chem, 283:19432-9. (PubMed:18487197)

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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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