Human Gene AMTN (ENST00000504451.1) from GENCODE V44
  Description: Homo sapiens amelotin (AMTN), transcript variant 2, mRNA. (from RefSeq NM_001286731)
RefSeq Summary (NM_001286731): The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008].
Gencode Transcript: ENST00000504451.1
Gencode Gene: ENSG00000187689.10
Transcript (Including UTRs)
   Position: hg38 chr4:70,518,585-70,532,514 Size: 13,930 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr4:70,518,778-70,532,465 Size: 13,688 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:70,518,585-70,532,514)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AMTN_HUMAN
DESCRIPTION: RecName: Full=Amelotin; Flags: Precursor;
FUNCTION: Could be a cell adhesion protein involved in the maturation of tooth enamel.
SUBCELLULAR LOCATION: Secreted (Probable).
PTM: O-glycosylated (By similarity).
SIMILARITY: Belongs to the amelotin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AMTN
Diseases sorted by gene-association score: amelogenesis imperfecta, type iiib* (950), exotropia (5), basal cell nevus syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.18 RPKM in Minor Salivary Gland
Total median expression: 1.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.0085-0.141 Picture PostScript Text
3' UTR -3.7049-0.076 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q6UX39
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0007155 cell adhesion
GO:0031214 biomineral tissue development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0070169 positive regulation of biomineral tissue development
GO:0070175 positive regulation of enamel mineralization

Cellular Component:
GO:0005576 extracellular region
GO:0005605 basal lamina
GO:0005788 endoplasmic reticulum lumen
GO:0005911 cell-cell junction
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  AB593161 - Homo sapiens AMTN mRNA for amelotin, complete cds, clone: HP10845-ARe01C03.
AY358528 - Homo sapiens clone DNA66660 RSTI689 (UNQ689) mRNA, complete cds.
BC121812 - Homo sapiens amelotin, mRNA (cDNA clone MGC:148133 IMAGE:40109020), complete cds.
BC121817 - Homo sapiens amelotin, mRNA (cDNA clone MGC:148132 IMAGE:40109016), complete cds.
KJ900734 - Synthetic construct Homo sapiens clone ccsbBroadEn_10128 AMTN gene, encodes complete protein.
JD494683 - Sequence 475707 from Patent EP1572962.
JD047930 - Sequence 28954 from Patent EP1572962.
JD123614 - Sequence 104638 from Patent EP1572962.
JD324936 - Sequence 305960 from Patent EP1572962.
JD292782 - Sequence 273806 from Patent EP1572962.
JD264220 - Sequence 245244 from Patent EP1572962.
JD439016 - Sequence 420040 from Patent EP1572962.
JD365775 - Sequence 346799 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6UX39 (Reactome details) participates in the following event(s):

R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: AMTN_HUMAN, NM_001286731, Q0P503, Q0P506, Q6UX39, uc010ihy.1, uc010ihy.2, uc010ihy.3, UNQ689/PRO1329
UCSC ID: ENST00000504451.1
RefSeq Accession: NM_001286731
Protein: Q6UX39 (aka AMTN_HUMAN)
CCDS: CCDS3542.1, CCDS68716.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.