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

GO curators for mouse genes have assigned the following annotations to the gene product of Pomt1. (This text reflects annotations as of Tuesday, May 21, 2013.)

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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 is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 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 Pomt1
  • is located in the following cellular components:
    • acrosomal vesicle ^[1]
    • sarcoplasmic reticulum ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pomt1
  • participates in the following biological processes:
    • extracellular matrix organization ^[2]

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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 Pomt1:
  • is located in the following cellular components:
    • endoplasmic reticulum membrane

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Summary text based on GO annotations supported by structural data

• Pomt1 encodes a protein or proteins that contain the following InterPro domains: Glycosyl transferase, family 39, Glycosyltransferase 39 like, MIR motif, indicating that the gene product:
  • participates in the following biological processes:
    • protein O-linked glycosylation
  • performs the following molecular functions:
    • mannosyltransferase activity
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pomt1 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
    • transferase activity
    • transferase activity, transferring glycosyl groups
  • is located in the following cellular components:
    • endoplasmic reticulum
    • integral to membrane
    • membrane
• Pomt1 has been associated with the Enzyme Commission numbers: 2.4.1.109, which implies that the gene product:
  • performs the following molecular functions:
    • dolichyl-phosphate-mannose-protein mannosyltransferase activity

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References

1. Prados B et al. (2007) Expression of the murine pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of walker-warburg syndrome. Am J Pathol, 170:1659-68. (PubMed:17456771)
2. Willer T et al. (2004) Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. (Correction: 2004;101(45):16081) Proc Natl Acad Sci U S A, 101:14126-31. (PubMed:15383666)

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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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