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    Amtn amelotin [ Mus musculus (house mouse) ]

    Gene ID: 71421, updated on 27-Nov-2024

    Summary

    Official Symbol
    Amtnprovided by MGI
    Official Full Name
    amelotinprovided by MGI
    Primary source
    MGI:MGI:1918671
    See related
    Ensembl:ENSMUSG00000029282 AllianceGenome:MGI:1918671
    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
    5430427O21Rik
    Summary
    Involved in odontogenesis of dentin-containing tooth and positive regulation of enamel mineralization. Located in basement membrane and cell-cell junction. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3B. Orthologous to human AMTN (amelotin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 2.0), thymus adult (RPKM 0.5) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Amtn in Genome Data Viewer
    Location:
    5 E1; 5 43.56 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (88523967..88533775)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (88376108..88385916)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700041A01 gene Neighboring gene STARR-seq mESC enhancer starr_13567 Neighboring gene proline rich, lacrimal 1 Neighboring gene STARR-seq mESC enhancer starr_13569 Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene ameloblastin

    Genomic regions, transcripts, and products

    Expression

    • 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (2)  1 citation

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    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 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of biomineral tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of enamel mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of enamel mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    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
     

    NCBI Reference Sequences (RefSeq)

    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_027793.1NP_082069.1  amelotin precursor

      See identical proteins and their annotated locations for NP_082069.1

      Status: VALIDATED

      Source sequence(s)
      AC121585, AK017352, AV294366
      Consensus CDS
      CCDS51538.1
      UniProtKB/Swiss-Prot
      Q9D3J8
      Related
      ENSMUSP00000073081.2, ENSMUST00000073363.2
      Conserved Domains (1) summary
      pfam15757
      Location:17210
      Amelotin; Amelotin

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      88523967..88533775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)