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

GO curators for mouse genes have assigned the following annotations to the gene product of Amelx. (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 member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [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 Amelx
  • performs the following molecular functions:
    • hydroxyapatite binding ^[4]
  • is located in the following cellular components:
    • basement membrane ^[3]
• The gene product of Amelx has been shown to bind to the gene products of Lamp1. ^{[1, 5]} Researchers have inferred, based on physical interactions, that the gene product of Amelx
  • performs the following molecular functions:
    • identical protein binding ^{[4, 6]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Amelx
  • participates in the following biological processes:
    • cell adhesion ^[7]
    • cell proliferation ^[7]
    • tooth mineralization ^[2]
  • performs the following molecular functions:
    • cell surface binding ^[1]
    • growth factor activity ^[7]

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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 Amelx:
  • participates in the following biological processes:
    • enamel mineralization
    • tooth mineralization
  • performs the following molecular functions:
    • identical protein binding
    • structural constituent of tooth enamel
  • is located in the following cellular components:
    • cytoplasm
    • endocytic vesicle
    • extracellular matrix
    • Golgi apparatus
    • proteinaceous extracellular matrix

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Summary text based on GO annotations supported by structural data

• Amelx encodes a protein or proteins that contain the following InterPro domains: Amelogenin, indicating that the gene product:
  • participates in the following biological processes:
    • multicellular organismal development

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Amelx indicates that it:
  • participates in the following biological processes:
    • biomineral tissue development
  • is located in the following cellular components:
    • extracellular region

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References

1. Deutsch D et al. (2006) Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system. Eur J Oral Sci, 114 Suppl 1:183-9; discussion 201-2, 381. (PubMed:16674683)
2. Gibson CW et al. (2001) Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem, 276:31871-5. (PubMed:11406633)
3. Manabe R et al. (2008) Transcriptome-based systematic identification of extracellular matrix proteins. Proc Natl Acad Sci U S A, 105:12849-54. (PubMed:18757743)
4. Moradian-Oldak J et al. (2002) Analysis of self-assembly and apatite binding properties of amelogenin proteins lacking the hydrophilic C-terminal. Matrix Biol, 21:197-205. (PubMed:11852235)
5. Paine CT et al. (1998) Identification of tuftelin- and amelogenin-interacting proteins using the yeast two-hybrid system. Connect Tissue Res, 39:257-267. (PubMed:11063033)
6. Paine ML et al. (1997) Protein interactions during assembly of the enamel organic extracellular matrix. J Bone Miner Res, 12:221-7. (PubMed:9041053)
7. Zeichner-David M et al. (2006) Amelogenin and ameloblastin show growth-factor like activity in periodontal ligament cells. Eur J Oral Sci, 114 Suppl 1:244-53; discussion 254-6, 381-. (PubMed:16674693)

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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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