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
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AMBN_HUMAN
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
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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: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.