AMTN (amelotin)

Gene

• Entrez ID: 401138
• Gene name: Amelotin
• Gene symbol: AMTN
• Synonyms (NCBI Gene): AI3B, UNQ689
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: 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, includin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1930448	hsa-miR-23a	CLIP-seq
MIRT1930449	hsa-miR-23b	CLIP-seq
MIRT1930450	hsa-miR-23c	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25789606, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS	16787391
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS	16787391
GO:0007155	Process	Cell adhesion	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	16304441, 16787391
GO:0031214	Process	Biomineral tissue development	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IBA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS	16304441
GO:0070169	Process	Positive regulation of biomineral tissue development	IDA	25407797
GO:0070175	Process	Positive regulation of enamel mineralization	IBA
GO:0070175	Process	Positive regulation of enamel mineralization	IEA

Other IDs

• MIM: 610912
• HGNC: 33188
• e!Ensembl: ENSG00000187689

Protein

• UniProt ID: Q6UX39
• Protein name: Amelotin
• Protein function: Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15757	Amelotin	17 → 207	Amelotin	Family

• Sequence:

  MRSTILLFCLLGSTRSLPQLKPALGLPPTKLAPDQGTLPNQQQSNQVFPSLSLIPLTQML
  TLGPDLHLLNPAAGMTPGTQTHPLTLGGLNVQQQLHPHVLPIFVTQLGAQGTILSSEELP
  QIFTSLIIHSLFPGGILPTSQAGANPDVQDGSLPAGGAGVNPATQGTPAGRLPTPSGTDD
  DFAVTTPAGIQRSTHAIEEATTESANGIQ

• Sequence length: 209

Pathways

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AMTN-related disorder	Benign; Likely benign	rs28674149, rs35286445, rs377035574, rs146006787, rs34803339, rs61755875	RCV003974311 RCV003979586 RCV003929523 RCV003951839 RCV003924307 RCV003978376

Associations from Text Mining
Disease Name	Relationship Type	References
Esophageal Neoplasms	Inhibit	30758105
Esophageal Neoplasms	Associate	33794814, 34716287
Geographic Atrophy	Associate	32160961, 39325754
Macular Degeneration	Associate	32160961
Macular Degeneration	Stimulate	39325754