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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)

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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_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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