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

    Gene ID: 11704, updated on 2-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 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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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