Human Gene AMELX (ENST00000380714.7) from GENCODE V44
Description: Homo sapiens amelogenin X-linked (AMELX), transcript variant 1, mRNA. (from RefSeq NM_001142) RefSeq Summary (NM_001142): 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]. Gencode Transcript: ENST00000380714.7 Gencode Gene: ENSG00000125363.14 Transcript (Including UTRs) Position: hg38 chrX:11,293,413-11,300,761 Size: 7,349 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chrX:11,294,789-11,300,612 Size: 5,824 Coding Exon Count: 5
ID:AMELX_HUMAN DESCRIPTION: RecName: Full=Amelogenin, X isoform; Flags: Precursor; 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 LOCATION: Secreted, extracellular space, extracellular matrix. DEVELOPMENTAL STAGE: Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel. DISEASE: Defects in AMELX are the cause of amelogenesis imperfecta type 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. SIMILARITY: Belongs to the amelogenin family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99217
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q99217 (Reactome details) participates in the following event(s):
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8957275 Post-translational protein phosphorylation R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification
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