Human Gene AMBN (ENST00000322937.10) Description and Page Index
  Description: Homo sapiens ameloblastin (AMBN), mRNA. (from RefSeq NM_016519)
RefSeq Summary (NM_016519): This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF209780.1, BC106931.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2145743 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000322937.10/ ENSP00000313809.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000322937.10
Gencode Gene: ENSG00000178522.14
Transcript (Including UTRs)
   Position: hg38 chr4:70,592,256-70,607,288 Size: 15,033 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr4:70,592,359-70,606,730 Size: 14,372 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:70,592,256-70,607,288)mRNA (may differ from genome)Protein (447 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ameloblastin; Flags: Precursor;
FUNCTION: Involved in the mineralization and structural organization of enamel.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.
SIMILARITY: Belongs to the ameloblastin family.

-  MalaCards Disease Associations
  MalaCards Gene Search: AMBN
Diseases sorted by gene-association score: amelogenesis imperfecta, type if* (900), hypoplastic amelogenesis imperfecta* (157), ameloblastoma (32), calcifying epithelial odontogenic tumor (18), amelogenesis imperfecta (18), x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 (12), amelogenesis imperfecta, type ib (8), teeth hard tissue disease (8), dentine erosion (8), hypocalcified amelogenesis imperfecta (7), amelogenesis imperfecta, type iiia (6), dental pulp necrosis (6)
* = 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: 0.99 RPKM in Brain - Putamen (basal ganglia)
Total median expression: 2.72 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 -13.00103-0.126 Picture PostScript Text
3' UTR -102.00558-0.183 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
  InterPro Domains: Graphical view of domain structure
IPR007798 - Amelin

Pfam Domains:
PF05111 - Ameloblastin precursor (Amelin)

ModBase Predicted Comparative 3D Structure on Q9NP70
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0030345 structural constituent of tooth enamel

Biological Process:
GO:0007155 cell adhesion
GO:0008283 cell proliferation
GO:0010469 regulation of receptor activity
GO:0031214 biomineral tissue development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen

-  Descriptions from all associated GenBank mRNAs
  AF209780 - Homo sapiens ameloblastin precursor (AMBN) mRNA, complete cds, alternatively spliced.
AF263464 - Homo sapiens ameloblastin mRNA, complete cds.
AJ537437 - Homo sapiens mRNA for ameloblastin precursor (AMBN gene).
AF219994 - Homo sapiens ameloblastin mRNA, complete cds.
JD323977 - Sequence 305001 from Patent EP1572962.
AK314918 - Homo sapiens cDNA, FLJ95827, Homo sapiens ameloblastin, enamel matrix protein (AMBN), mRNA.
BC106931 - Homo sapiens ameloblastin (enamel matrix protein), mRNA (cDNA clone MGC:126152 IMAGE:40033703), complete cds.
BC106932 - Homo sapiens ameloblastin (enamel matrix protein), mRNA (cDNA clone MGC:126153 IMAGE:40033705), complete cds.
KJ896416 - Synthetic construct Homo sapiens clone ccsbBroadEn_05810 AMBN gene, encodes complete protein.
JD065055 - Sequence 46079 from Patent EP1572962.
JD417418 - Sequence 398442 from Patent EP1572962.
JD556782 - Sequence 537806 from Patent EP1572962.

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

Protein Q9NP70 (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: AMBN_HUMAN, NM_016519, Q3B862, Q9H2X1, Q9H4L1, Q9NP70, uc003hfl.1, uc003hfl.2, uc003hfl.3, uc003hfl.4
UCSC ID: uc003hfl.4
RefSeq Accession: NM_016519
Protein: Q9NP70 (aka AMBN_HUMAN)
CCDS: CCDS3543.1

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