Amtn amelotin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amtnprovided by MGI
Official Full Name: amelotinprovided by MGI
Primary source: MGI:MGI:1918671
See related: Ensembl:ENSMUSG00000029282 AllianceGenome:MGI:1918671
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5430427O21Rik
Summary: Involved in odontogenesis of dentin-containing tooth and positive regulation of enamel mineralization. Located in basement membrane and cell-cell junction. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3B. Orthologous to human AMTN (amelotin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 2.0), thymus adult (RPKM 0.5) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E1; 5 43.56 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (88523967..88533775)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (88376108..88385916)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that amelotin (AMTN), odontogenic ameloblast-associated protein (ODAM) and secretory calcium-binding phosphoprotein proline-glutamine rich 1 (SCPPPQ1) participate in structuring an extracellular matrix with the distinctive capacity of attaching epithelial cells to mineralized surfaces.
Title: Interactions of AMTN, ODAM and SCPPPQ1 proteins of a specialized basal lamina that attaches epithelial cells to tooth mineral.
IL-1beta and TNF-alpha increase AMTN gene transcription via the C/EBP1, C/EBP2 and YY1 elements in the mouse AMTN gene promoter.
Title: IL-1β and TNF-α regulate mouse amelotin gene transcription in gingival epithelial cells.
These results show that the levels of AMTN mRNA induced by TGFbeta1 and Smad3 are decreased by robust expression of Bax in gingival epithelial cells.
Title: TGFβ1-induced Amelotin gene expression is downregulated by Bax expression in mouse gingival epithelial cells.
the expression of mouse Amtn gene in amelogenesis is mediated by Runx2/Cbfbeta complex. Runx2/Cbfbeta can bind to the two Runx2 binding motifs AACCACT (-1342/-1336) and AACCAAA (-98/-92) in the Amtn promoter and regulate Amtn gene expression.
Title: Combination of Runx2 and Cbfβ upregulates Amelotin gene expression in ameloblasts by directly interacting with cis‑enhancers during amelogenesis.
AMTN mRNA levels were induced at the initiation of apoptosis by TGFbeta1, which mediated through the Smad3 bindings to AMTN gene promoter.
Title: Amelotin gene expression is temporarily being upregulated at the initiation of apoptosis induced by TGFβ1 in mouse gingival epithelial cells.
This study demonstrates for the first time that AMTN mutations cause non-syndromic human Amelogenesis imperfecta (AI) and explores the human phenotype, comparing it with that of mice with disrupted Amtn function
Title: Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
AMTN has a direct influence on biomineralization by promoting hydroxyapatite mineralization.
Title: The enamel protein amelotin is a promoter of hydroxyapatite mineralization.
proinflammatory cytokines induce Amelotin gene transcription and a role for Amelotin in gingival inflammation
Title: Transcriptional regulation of amelotin gene by proinflammatory cytokines in gingival fibroblasts.
ODAM and AMTN are bona fide components of the basal lamina associated with maturation stage ameloblasts and they organize into different subdomains during the early maturation stage.
Title: Odontogenic ameloblast-associated and amelotin are novel basal lamina components.
Data show that the anti-Amelotin antibody from the rabbit with high titer and specificity had been prepared with the purified recombinant Amelotin as immunogen, which is helpful for further research into the detection and function of Amelotin.
Title: [Preparation and characterization of anti-Amelotin polyclonal antibody].

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IBA Inferred from Biological aspect of Ancestor more info
involved_in odontogenesis of dentin-containing tooth	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of biomineral tissue development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	ISO Inferred from Sequence Orthology more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: amelotin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.