InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AMELX

Summary

InnateDB Protein

IDBP-43794.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AMELX

Protein Name

amelogenin, X-linked

Synonyms

AI1E; AIH1; ALGN; AMG; AMGL; AMGX;

Species

Homo sapiens

Ensembl Protein

ENSP00000370088

InnateDB Gene

IDBG-43792 (AMELX)

Protein Structure

UniProt Annotation

Function

Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

Amelogenesis imperfecta 1E (AI1E) [MIM:301200]: A X- linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. {ECO:0000269PubMed:10669095, ECO:0000269PubMed:15111628, ECO:0000269PubMed:7599636, ECO:0000269PubMed:7782077, ECO:0000269PubMed:9188994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0030345	structural constituent of tooth enamel
GO:0042802	identical protein binding
GO:0046848	hydroxyapatite binding

Biological Process

GO:0001649	osteoblast differentiation
GO:0001837	epithelial to mesenchymal transition
GO:0002062	chondrocyte differentiation
GO:0007155	cell adhesion
GO:0007165	signal transduction
GO:0007275	multicellular organismal development
GO:0008283	cell proliferation
GO:0031214	biomineral tissue development
GO:0032967	positive regulation of collagen biosynthetic process
GO:0034505	tooth mineralization
GO:0042475	odontogenesis of dentin-containing tooth
GO:0050801	ion homeostasis
GO:0070166	enamel mineralization
GO:0070172	positive regulation of tooth mineralization