Enam enamelin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Enamprovided by MGI
Official Full Name: enamelinprovided by MGI
Primary source: MGI:MGI:1333772
See related: Ensembl:ENSMUSG00000029286 AllianceGenome:MGI:1333772
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: abte
Summary: A structural constituent of tooth enamel. Acts upstream of or within several processes, including ameloblast differentiation; amelogenesis; and positive regulation of enamel mineralization. Located in extracellular matrix. Is expressed in jaw. Used to study amelogenesis imperfecta type 1B. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1B and amelogenesis imperfecta type 1C. Orthologous to human ENAM (enamelin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 E1; 5 43.66 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (88635834..88653908)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (88487975..88506049)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.
Title: ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.
Enam expression is regulated by Msx2.
Title: Enam expression is regulated by Msx2.
Data suggest that a specific quantity of enamelin is critical for normal enamel formation.
Title: Enamelin is critical for ameloblast integrity and enamel ultrastructure formation.
enamelin genotype, which affects enamel integrity, and food hardness influence bodyweight gain in postnatal and young adult mice
Title: Bodyweight assessment of enamelin null mice.
The enamelin mutation was associated with earlier forming enamel defects.The study supported the critical involvement of amelogenin and enamelin in enamel mineralization.
Title: Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations.
enamelin acts as an adhesion molecule and is involved in ameloblast cell differentiation during the early stages of tooth development
Title: Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse.
The results suggested that Wnt/beta-catenin signaling could function in enamelin gene expression by direct interaction through two conserved LEF1 responsive elements on the enamelin gene in ameloblast-like cells.
Title: Beta-catenin/LEF1 activated enamelin expression in ameloblast-like cells.
This study provides new insights into the molecular control of Enam cell- and stage-specific expression.
Title: Identifying promoter elements necessary for enamelin tissue-specific expression.
Mice lacking expression of the AmelX, Enam and Mmp20 genes have been generated.
Title: Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
enamelin is essential for proper enamel matrix organization and mineralization
Title: Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Chemically induced (ENU) (5) 1 citation
Endonuclease-mediated (7) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables structural constituent of tooth enamel	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of tooth enamel	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ameloblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ameloblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amelogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amelogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: enamelin

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_017468.3 → NP_059496.1 enamelin precursor

See identical proteins and their annotated locations for NP_059496.1

Status: VALIDATED

Source sequence(s)

AC121585, BB093794, BC115848, CJ046275

Consensus CDS

CCDS19400.1

UniProtKB/Swiss-Prot

O55196

UniProtKB/TrEMBL

A0A0G2JEP7, Q548P8

Related

ENSMUSP00000031222.9, ENSMUST00000031222.9

Conserved Domains (1) summary

pfam15362
Location:216 → 1249

Enamelin; Enamelin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

88635834..88653908

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030254122.1 → XP_030109982.1 enamelin isoform X1

UniProtKB/TrEMBL

A0A0G2JEP7

Conserved Domains (1) summary

pfam15362
Location:215 → 1111

Enamelin