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    Ambn ameloblastin [ Mus musculus (house mouse) ]

    Gene ID: 11698, updated on 23-Jun-2021

    Summary

    Official Symbol
    Ambnprovided by MGI
    Official Full Name
    ameloblastinprovided by MGI
    Primary source
    MGI:MGI:104655
    See related
    Ensembl:ENSMUSG00000029288
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes an extracellular matrix glycoprotein that is involved in the formation of dental enamel. Mice lacking the encoded protein fail to undergo normal ameloblast differentiation and develop enamel. Mice overproducing the product of this gene develop thinner and more porous enamel, with disrupted rod patterns and abnormal crystallites. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See Ambn in Genome Data Viewer
    Location:
    5 E1; 5 43.63 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (88603850..88616390)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (88455991..88468531)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (88885036..88897556)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene amelotin Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene enamelin Neighboring gene immunoglobulin joining chain

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    Homology

    Clone Names

    • MGC107285

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring compression resistance TAS
    Traceable Author Statement
    more info
    PubMed 
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables growth factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables structural constituent of tooth enamel IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within extracellular matrix organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular matrix TAS
    Traceable Author Statement
    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_001303431.1NP_001290360.1  ameloblastin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001290360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC121585, BC087927
      Consensus CDS
      CCDS80322.1
      UniProtKB/TrEMBL
      Q5M8P3
      Related
      ENSMUSP00000142944.2, ENSMUST00000198265.5
      Conserved Domains (1) summary
      pfam05111
      Location:5422
      Amelin; Ameloblastin precursor (Amelin)
    2. NM_009664.2NP_033794.1  ameloblastin isoform 2 precursor

      See identical proteins and their annotated locations for NP_033794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC121585, BC087927
      Consensus CDS
      CCDS51539.1
      UniProtKB/Swiss-Prot
      O55189
      UniProtKB/TrEMBL
      Q5M8P3
      Related
      ENSMUSP00000031226.8, ENSMUST00000031226.9
      Conserved Domains (1) summary
      pfam05111
      Location:5407
      Amelin; Ameloblastin precursor (Amelin)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      88603850..88616390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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