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

GO curators for mouse genes have assigned the following annotations to the gene product of Kl. (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 type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]

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

• The gene product of Kl has been shown to bind to the gene products of Fgfr2, Fgfr4, Wnt1, Wnt3, Wnt4, Wnt5a. ^{[2, 3]} Researchers have inferred, based on physical interactions, that the gene product of Kl
  • performs the following molecular functions:
    • fibroblast growth factor binding ^[6]
    • fibroblast growth factor receptor binding ^[6]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Kl
  • participates in the following biological processes:
    • aging ^[1]
    • energy reserve metabolic process ^[4]
• Researchers have inferred, based on genetic interactions, that the gene product of Kl
  • participates in the following biological processes:
    • calcium ion homeostasis based on interactions with Stc2 ^[5]
    • positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway based on interactions with ^[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 Kl:
  • participates in the following biological processes:
    • acute inflammatory response
    • aging
    • positive regulation of bone mineralization
  • performs the following molecular functions:
    • fibroblast growth factor binding
  • is located in the following cellular components:
    • extracellular region
    • integral to membrane

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Summary text based on GO annotations supported by structural data

• Kl encodes a protein or proteins that contain the following InterPro domains: Glycoside hydrolase, catalytic domain, Glycoside hydrolase, family 1, Glycoside hydrolase, family 1, active site, Glycoside hydrolase, superfamily, indicating that the gene product:
  • participates in the following biological processes:
    • carbohydrate metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • cation binding
    • hydrolase activity, hydrolyzing O-glycosyl compounds

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Kl indicates that it:
  • participates in the following biological processes:
    • metabolic process
  • performs the following molecular functions:
    • hydrolase activity
    • hydrolase activity, acting on glycosyl bonds
  • is located in the following cellular components:
    • membrane
    • plasma membrane
• Kl has been associated with the Enzyme Commission numbers: 3.2.1.31, which implies that the gene product:
  • performs the following molecular functions:
    • beta-glucuronidase activity

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References

1. Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing [see comments] Nature, 390:45-51. (PubMed:9363890)
2. Kurosu H et al. (2006) Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem, 281:6120-3. (PubMed:16436388)
3. Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging. Science, 317:803-6. (PubMed:17690294)
4. Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice Biochem Biophys Res Commun, 278:665-70. (PubMed:11095966)
5. Takei Y et al. (2012) Stanniocalcin 2 is associated with ectopic calcification in alpha-klotho mutant mice and inhibits hyperphosphatemia-induced calcification in aortic vascular smooth muscle cells. Bone, 50:998-1005. (PubMed:22285620)
6. Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature, 444:770-4. (PubMed:17086194)

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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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