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

GO curators for mouse genes have assigned the following annotations to the gene product of Efemp1. (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 fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

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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 Efemp1:
  • participates in the following biological processes:
    • epidermal growth factor receptor signaling pathway
    • negative regulation of chondrocyte differentiation
    • peptidyl-tyrosine phosphorylation
    • regulation of transcription, DNA-dependent
  • performs the following molecular functions:
    • epidermal growth factor receptor binding
    • epidermal growth factor-activated receptor activity
  • is located in the following cellular components:
    • extracellular space

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Summary text based on GO annotations supported by structural data

• Efemp1 encodes a protein or proteins that contain the following InterPro domains: EGF-containing fibulin-like extracellular matrix protein 1/2, EGF-like calcium-binding, EGF-like calcium-binding, conserved site, EGF-like, conserved site, EGF-type aspartate/asparagine hydroxylation site, Epidermal growth factor-like domain, indicating that the gene product:
  • performs the following molecular functions:
    • calcium ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Efemp1 indicates that it:
  • performs the following molecular functions:
    • growth factor activity
  • is located in the following cellular components:
    • extracellular region
    • proteinaceous extracellular matrix

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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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