Ambn ameloblastin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ambnprovided by MGI
Official Full Name: ameloblastinprovided by MGI
Primary source: MGI:MGI:104655
See related: Ensembl:ENSMUSG00000029288 AllianceGenome:MGI:104655
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: human all
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Genomic context

Location:: 5 E1; 5 43.63 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.
Title: The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.
Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia.
Title: AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
polymorphisms in Ambn, Col14a1, and Mmp20 are associated with the susceptibility to dental fluorosis
Title: Analysis of Polymorphisms in Genes Differentially Expressed in the Enamel of Mice with Different Genetic Susceptibilities to Dental Fluorosis.
Data demonstrate the functional importance of the AMBN extracellular matrix protein in bone fracture prevention and rapid fracture healing.
Title: The ameloblastin extracellular matrix molecule enhances bone fracture resistance and promotes rapid bone fracture healing.
AMBN facilitates rapid long bone growth and an important growth spurt during the skeletogenesis of adolescent tooth-bearing vertebrates
Title: Ameloblastin, an Extracellular Matrix Protein, Affects Long Bone Growth and Mineralization.
Protein interaction between Ambn and Psma3 can facilitate redistribution of ameloblastin domains within forming enamel.
Title: Protein Interaction between Ameloblastin and Proteasome Subunit α Type 3 Can Facilitate Redistribution of Ameloblastin Domains within Forming Enamel.
AMBN may function as a growth factor-like molecule solubilized in the aqueous microenvironment. In jaws, it might play a role in bone physiology through autocrine/paracrine pathways, particularly during development and stress-induced remodeling.
Title: Tracking endogenous amelogenin and ameloblastin in vivo.
Ameloblastin (AMBN) expression may be regulated in a site-specific manner and identify AMBN as a putative in vivo marker of the site-specific fingerprint of bone organs
Title: Ameloblastin as a putative marker of specific bone compartments.
Ambn plays a crucial role in the regulation of cranial bone growth and suture closure via Msx 2 suppression and proliferation inhibition.
Title: Ameloblastin inhibits cranial suture closure by modulating MSX2 expression and proliferation.
Blocking integrin alpha2beta1 and ERK 1/2 pathways alleviated the effects of AMBN on osteoclast differentiation.
Title: Ameloblastin modulates osteoclastogenesis through the integrin/ERK pathway.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (9) 1 citation

General gene information

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Markers

Ambn (e-PCR), detects polymorphism
- UniSTS:265691

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
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
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

General protein information

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Preferred Names: ameloblastin

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)

NM_001303431.1 → NP_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:5 → 422

Amelin; Ameloblastin precursor (Amelin)
NM_009664.2 → NP_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

Related

ENSMUSP00000031226.8, ENSMUST00000031226.9

Conserved Domains (1) summary

pfam05111
Location:5 → 407

Amelin; Ameloblastin precursor (Amelin)