Human Gene AMTN (ENST00000504451.1) from GENCODE V44
Description: Homo sapiens amelotin (AMTN), transcript variant 2, mRNA. (from RefSeq NM_001286731) RefSeq Summary (NM_001286731): The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]. Gencode Transcript: ENST00000504451.1 Gencode Gene: ENSG00000187689.10 Transcript (Including UTRs) Position: hg38 chr4:70,518,585-70,532,514 Size: 13,930 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr4:70,518,778-70,532,465 Size: 13,688 Coding Exon Count: 8
ID:AMTN_HUMAN DESCRIPTION: RecName: Full=Amelotin; Flags: Precursor; FUNCTION: Could be a cell adhesion protein involved in the maturation of tooth enamel. SUBCELLULAR LOCATION: Secreted (Probable). PTM: O-glycosylated (By similarity). SIMILARITY: Belongs to the amelotin 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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q6UX39
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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.
Biological Process: GO:0007155 cell adhesion GO:0031214 biomineral tissue development GO:0042475 odontogenesis of dentin-containing tooth GO:0043687 post-translational protein modification GO:0044267 cellular protein metabolic process GO:0070169 positive regulation of biomineral tissue development GO:0070175 positive regulation of enamel mineralization
AB593161 - Homo sapiens AMTN mRNA for amelotin, complete cds, clone: HP10845-ARe01C03. AY358528 - Homo sapiens clone DNA66660 RSTI689 (UNQ689) mRNA, complete cds. BC121812 - Homo sapiens amelotin, mRNA (cDNA clone MGC:148133 IMAGE:40109020), complete cds. BC121817 - Homo sapiens amelotin, mRNA (cDNA clone MGC:148132 IMAGE:40109016), complete cds. KJ900734 - Synthetic construct Homo sapiens clone ccsbBroadEn_10128 AMTN gene, encodes complete protein. JD494683 - Sequence 475707 from Patent EP1572962. JD047930 - Sequence 28954 from Patent EP1572962. JD123614 - Sequence 104638 from Patent EP1572962. JD324936 - Sequence 305960 from Patent EP1572962. JD292782 - Sequence 273806 from Patent EP1572962. JD264220 - Sequence 245244 from Patent EP1572962. JD439016 - Sequence 420040 from Patent EP1572962. JD365775 - Sequence 346799 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q6UX39 (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