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

Gene ID: 11704, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Amelx in Genome Data Viewer
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_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chrX:165110350-165110651 Neighboring gene predicted gene, 39550 Neighboring gene MSL complex subunit 3 Neighboring gene STARR-seq mESC enhancer starr_48278 Neighboring gene Rho GTPase activating protein 6 Neighboring gene STARR-seq mESC enhancer starr_48279 Neighboring gene STARR-seq mESC enhancer starr_48280 Neighboring gene STARR-positive B cell enhancer mm9_chrX:165523946-165524246 Neighboring gene STARR-seq mESC enhancer starr_48281 Neighboring gene predicted gene 15246 Neighboring gene holocytochrome c synthetase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Phosphorylation and ionic strength alter the LRAP-HAP interface in the N-terminus. Lu JX, et al. Biochemistry, 2013 Apr 2. PMID 23477367, Free PMC Article
  2. Cloning, characterization, and heterologous expression of exon-4-containing amelogenin mRNAs. Hu CC, et al. J Dent Res, 1997 Feb. PMID 9062557
  3. Molecular structure of the mouse amelogenin genomic DNA. Oida S, et al. DNA Seq, 1996. PMID 8988368
  4. Folding, assembly, and aggregation of recombinant murine amelogenins with T21I and P41T point mutations. Bromley KM, et al. Cells Tissues Organs, 2011. PMID 21540557, Free PMC Article
  5. Amelogenin promotes odontoblast-like MDPC-23 cell differentiation via activation of ERK1/2 and p38 MAPK. Yao N, et al. Mol Cell Biochem, 2011 Sep. PMID 21547453

See all (232) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Leucine rich amelogenin peptide prevents ovariectomy-induced bone loss in mice.
    Title: Leucine rich amelogenin peptide prevents ovariectomy-induced bone loss in mice.
  5. 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.
  6. 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.
  7. 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.
  8. Protein nanoribbons template enamel mineralization.
    Title: Protein nanoribbons template enamel mineralization.
  9. 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.
  10. 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

Homology

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)

  1. 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

  2. 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

  3. 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

  4. 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

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    167959110..167970205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P63277.1 GenPept UniProtKB/Swiss-Prot:P63277

Gene LinkOut

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