AMTN amelotin [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMTNprovided by HGNC
Official Full Name: amelotinprovided by HGNC
Primary source: HGNC:HGNC:33188
See related: Ensembl:ENSG00000187689 MIM:610912; AllianceGenome:HGNC:33188
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AI3B; UNQ689
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, 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]
Expression: Biased expression in stomach (RPKM 3.1), prostate (RPKM 1.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (70518569..70532743)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73859546..73873706)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (71384286..71398460)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.
Title: Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.
TNF-alpha stimulates AMTN gene transcription in human gingival epithelial cells via C/EBP1, C/EBP2, and YY1 elements in the human AMTN gene promoter.
Title: Tumor necrosis factor-α stimulates human amelotin gene transcription in gingival epithelial cells.
Results show that AMTN and KLK4 are not essential for biological processes outside of the dentition or during the secretory stage of amelogenesis. Both KLK4 and AMTN proved to be essential for the maturation of dental enamel, a process that requires the removal of extracellularmatrix proteins and the deposition of ions on the sides of enamel crystallites.
Title: Maturation stage enamel malformations in Amtn and Klk4 null mice.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amelogenesis imperfecta type 3B MedGen: C4539891 OMIM: 617607 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S2969 (e-PCR), detects polymorphism
- UniSTS:65887

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of biomineral tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement 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

Names: RSTI689

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.

mRNA and Protein(s)

NM_001286731.2 → NP_001273660.1 amelotin isoform 2 precursor

See identical proteins and their annotated locations for NP_001273660.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC134919, AY358528, BC121812, BF664579, BU727294

Consensus CDS

CCDS68716.1

UniProtKB/Swiss-Prot

Q6UX39

Related

ENSP00000422452.1, ENST00000504451.1

Conserved Domains (1) summary

pfam15757
Location:19 → 205

Amelotin; Amelotin
NM_212557.4 → NP_997722.1 amelotin isoform 1 precursor

See identical proteins and their annotated locations for NP_997722.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC134919, AY358528, BF664579, BU727294

Consensus CDS

CCDS3542.1

UniProtKB/Swiss-Prot

Q0P503, Q0P506, Q6UX39

UniProtKB/TrEMBL

F1T0L8

Related

ENSP00000341013.4, ENST00000339336.9

Conserved Domains (1) summary

pfam15757
Location:18 → 206

Amelotin; Amelotin