Amelx amelogenin, X-linked [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amelxprovided by MGI
Official Full Name: amelogenin, X-linkedprovided by MGI
Primary source: MGI:MGI:88005
See related: Ensembl:ENSMUSG00000031354 AllianceGenome:MGI:88005
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: Amg; ALGN; AMGL; AMGX; Amel; LRAP; Rgsc888
Summary: Enables several functions, including growth factor activity; hydroxyapatite binding activity; and metal ion binding activity. Involved in cell adhesion; enamel mineralization; and regulation of cell population proliferation. Located in basement membrane; cell surface; and supramolecular complex. Part of protein-containing complex. Is expressed in several structures, including connective tissue; eye; jaw; nervous system; and skeleton. Used to study amelogenesis imperfecta type 1E. Human ortholog(s) of this gene implicated in amelogenesis imperfecta and amelogenesis imperfecta type 1E. Orthologous to several human genes including AMELY (amelogenin Y-linked). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: X F5; X 78.95 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (167959110..167970205, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (169176114..169187209, complement)

Chromosome X - NC_000086.8 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
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?

High-yield recombinant bacterial expression of [13] C-, [15] N-labeled, serine-16 phosphorylated, murine amelogenin using a modified third generation genetic code expansion protocol.
Title: High-yield recombinant bacterial expression of (13) C-, (15) N-labeled, serine-16 phosphorylated, murine amelogenin using a modified third generation genetic code expansion protocol.
An miRNA derived from amelogenin exon4 regulates expression of transcription factor Runx2 by directly targeting upstream activators Nfia and Prkch.
Title: An miRNA derived from amelogenin exon4 regulates expression of transcription factor Runx2 by directly targeting upstream activators Nfia and Prkch.
Loss of biological control of enamel mineralization in amelogenin-phosphorylation-deficient mice.
Title: Loss of biological control of enamel mineralization in amelogenin-phosphorylation-deficient mice.
Leucine rich amelogenin peptide prevents ovariectomy-induced bone loss in mice.
Title: Leucine rich amelogenin peptide prevents ovariectomy-induced bone loss in mice.
MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations.
Title: MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations.
Stage-Specific Role of Amelx Activation in Stepwise Ameloblast Induction from Mouse Induced Pluripotent Stem Cells.
Title: Stage-Specific Role of Amelx Activation in Stepwise Ameloblast Induction from Mouse Induced Pluripotent Stem Cells.
Novel LRAP-binding partner revealing the plasminogen activation system as a regulator of cementoblast differentiation and mineral nodule formation in vitro.
Title: Novel LRAP-binding partner revealing the plasminogen activation system as a regulator of cementoblast differentiation and mineral nodule formation in vitro.
Protein nanoribbons template enamel mineralization.
Title: Protein nanoribbons template enamel mineralization.
Amelogenin phosphorylation regulates tooth enamel formation by stabilizing a transient amorphous mineral precursor.
Title: Amelogenin phosphorylation regulates tooth enamel formation by stabilizing a transient amorphous mineral precursor.
Results show that leucine-rich amelogenin (LRAP) assemblies with different sizes all contained a consistent rigid segment with beta-sheet secondary structure and the beta-sheet segment would further assemble into amyloid-like structures.
Title: Amyloid structure of high-order assembly of Leucine-rich amelogenin revealed by solid-state NMR.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (6)
Targeted (5) 1 citation

General gene information

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Markers

Amel (e-PCR), detects polymorphism
- UniSTS:141072

Amel (e-PCR), detects polymorphism
- UniSTS:141073

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hydroxyapatite binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of tooth enamel	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of tooth enamel	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in enamel mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis of dentin-containing tooth	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in tooth mineralization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in endocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in supramolecular complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: amelogenin, X isoform

Names: amelogenin X chromosome; enamel matrix protein; leucine-rich amelogenin peptide

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_001081978.2 → NP_001075447.1 amelogenin, X isoform isoform 1 precursor

See identical proteins and their annotated locations for NP_001075447.1

Status: VALIDATED

Description

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

Source sequence(s)

AK029358, BC059090

Consensus CDS

CCDS41213.1

UniProtKB/TrEMBL

Q6PCW7

Related

ENSMUSP00000065966.6, ENSMUST00000066112.12

Conserved Domains (1) summary

smart00818
Location:28 → 195

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001290371.1 → NP_001277300.1 amelogenin, X isoform isoform 3 precursor

See identical proteins and their annotated locations for NP_001277300.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains multiple differences, compared to variant 1, including using an alternate 3' terminal exon. The encoded isoform (3) is shorter than isoform 1 and has a distinct C-terminus.

Source sequence(s)

KC731591

Consensus CDS

CCDS81197.1

UniProtKB/TrEMBL

R9W2T8

Related

ENSMUSP00000107748.2, ENSMUST00000112120.8

Conserved Domains (1) summary

smart00818
Location:28 → 172

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001415990.1 → NP_001402919.1 amelogenin, X isoform isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AL805974

UniProtKB/Swiss-Prot

A2ALX2, A2ALX3, P45559, P63277, P70592, Q61293

Related

ENSMUSP00000107747.2, ENSMUST00000112119.8
NM_009666.4 → NP_033796.1 amelogenin, X isoform isoform 2 precursor

See identical proteins and their annotated locations for NP_033796.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK029358, KC731591

Consensus CDS

CCDS41214.1

UniProtKB/Swiss-Prot

P63277

UniProtKB/TrEMBL

R9W2T8

Related

ENSMUSP00000107746.2, ENSMUST00000112118.8

Conserved Domains (1) summary

smart00818
Location:28 → 196

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth

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_000086.8 Reference GRCm39 C57BL/6J

Range

167959110..167970205 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161784.1 → XP_036017677.1 amelogenin, X isoform isoform X1

Conserved Domains (1) summary

smart00818
Location:49 → 209

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth