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

GO curators for mouse genes have assigned the following annotations to the gene product of Uros. (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 December 7, 2007. 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.] The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

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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 Uros
  • participates in the following biological processes:
    • porphyrin-containing compound biosynthetic process ^[3]
  • performs the following molecular functions:
    • uroporphyrinogen-III synthase activity ^[3]
  • is located in the following cellular components:
    • mitochondrion ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Uros
  • participates in the following biological processes:
    • porphyrin-containing compound biosynthetic process ^[1]
  • performs the following molecular functions:
    • uroporphyrinogen-III synthase activity ^[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 Uros:
  • participates in the following biological processes:
    • heme biosynthetic process
    • uroporphyrinogen III biosynthetic process
  • performs the following molecular functions:
    • cofactor binding
    • uroporphyrinogen-III synthase activity
  • is located in the following cellular components:
    • cytosol

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Summary text based on GO annotations supported by structural data

• Uros encodes a protein or proteins that contain the following InterPro domains: Tetrapyrrole biosynthesis, uroporphyrinogen III synthase, indicating that the gene product:
  • participates in the following biological processes:
    • tetrapyrrole biosynthetic process

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Uros indicates that it:
  • performs the following molecular functions:
    • lyase activity

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References

1. Bensidhoum M et al. (1998) The disruption of mouse uroporphyrinogen III synthase (uros) gene is fully lethal Transgenics, 2:275-280.
2. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
3. Xu W et al. (1995) Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. Genomics, 26:556-62. (PubMed:7607680)

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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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