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

GO curators for mouse genes have assigned the following annotations to the gene product of Spink5. (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.] This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Spink5
  • participates in the following biological processes:
    • negative regulation of peptidase activity ^[1]
    • negative regulation of proteolysis ^[1]
    • regulation of cell adhesion ^[1]
  • performs the following molecular functions:
    • peptidase inhibitor 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 Spink5:
  • participates in the following biological processes:
    • epidermal cell differentiation
  • performs the following molecular functions:
    • serine-type endopeptidase inhibitor activity
  • is located in the following cellular components:
    • cell cortex
    • cytoplasm
    • cytosol
    • endoplasmic reticulum
    • endoplasmic reticulum membrane
    • epidermal lamellar body
    • extracellular region
    • perinuclear region of cytoplasm

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References

1. Yang T et al. (2004) Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice. Genes Dev, 18:2354-8. (PubMed:15466487)

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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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