Version 5.4
Homo sapiens Gene: AMELX
Summary
InnateDB Gene IDBG-43792.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMELX
Gene Name amelogenin, X-linked
Synonyms AI1E; AIH1; ALGN; AMG; AMGL; AMGX
Species Homo sapiens
Ensembl Gene ENSG00000125363
Encoded Proteins
IDBP-43794
amelogenin, X-linked
IDBP-43796
amelogenin, X-linked
IDBP-43798
amelogenin, X-linked
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:11293413-11300761
Strand Forward strand
Band p22.2
Transcripts
ENST00000380712 ENSP00000370088
ENST00000380714 ENSP00000370090
ENST00000348912 ENSP00000335312
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
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0009986 cell surface
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000031354
View Gene Order
Cross-References
SwissProt Q99217
TrEMBL B2BY28
UniProt Splice Variant
Entrez Gene 265
UniGene Hs.654436
RefSeq NM_001142 NM_182680 NM_182681
HUGO HGNC:461
OMIM 300391
CCDS CCDS14144 CCDS14145 CCDS14146
HPRD
IMGT
EMBL AC002366 AF436849 AY040206 BC074951 EU168848 M55418 M86932 S67147 X14440
GenPept AAA51717 AAA62826 AAB29184 AAC21581 AAH74951 AAK77213 AAL30432 ABY48705 CAA32613
RNA Seq Atlas 265

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca