AMBN:Ameloblastin

Gene Name
Ameloblastin
Protein ID
Q9NP70
Chromosome ID
4
HPP Status
1
Protein Name
Ameloblastin
Synonyms

ameloblastin (enamel matrix protein)

ameloblastin, enamel matrix protein

ameloblastin


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMBN ]
Chromosomal Position
4q13.3 | Start:70592256 End:70592256
Sequence
Q9NP70.fasta
Description

Entrez Gene Summary for AMBN
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)

UniProtKB Summary for AMBN
Function: Involved in the mineralization and structural organization of enamel

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMBN ]
External IDs
Hgnc ID: 452 EntrezGene ID: 258 Ensembl ID: ENSG00000178522
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMBN ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
17331365The frequently detected AMBN alterations in ameloblastomas are polymorphisms, which appear to be unrelated to the occurrence of ameloblastomas.2010-01-21
18353005a bipolar calcium-binding molecule [with] a possible role in protein-protein interactions2010-01-21
18781068Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2008-09-24
19661317Mutation of ameloblastin gene is associated with calcifying epithelial odontogenic tumor.2010-01-21
20043904The identification of a fibronectin-binding domain in ameloblastin might permit interesting applications for dental implantology.2010-05-10
20831578found to induce, directly and indirectly, signal transducer and activator of transcription (STAT) 1 and 2 and downstream factors in the interferon pathway2011-01-01
20854943Findings suggest a role for this protein in early bone formation and repair.2011-05-07
21149578ameloblastin is expressed in osteoblasts and functions as a promoting factor for osteogenic differentiation via a novel pathway through the interaction between CD63 and integrin beta12011-03-05
21761392AMBN does not influence osteogenic activity in vitro under the conditions used2011-12-31
23782691AMBN ribbons exhibited lengths ranging from tens to hundreds of nm. Deletion analysis and NMR spectroscopy revealed that N-terminal segment encoded by exon 5 comprises two short independently structured regions and plays a role in self-assembly of AMBN2013-10-26
23790503We found a trend for association between variation in AMBN and MIH in both cohorts, which may suggest that variation in the regulation of AMBN is a mechanism that leads to MIH.2014-04-26
24858907Report shows for the first time that AMBN mutations cause non-syndromic human amelogenesis imperfecta and confirms that mouse models with disrupted Ambn function are valid.2015-06-06
25373699two genetic variants (rs2337359 upstream of TUFT1 and missense rs7439186 in AMBN) involved in gene-by-fluoride interactions.2015-04-18
26070558Protein interaction between Ambn and Psma3 can facilitate redistribution of ameloblastin domains within forming enamel.2015-11-28
26223266Authors perform an evolutionary analysis of mammalian AMBN sequences in order to predict functionally important sites of the protein and to identify candidate disease-associated mutations responsible for the protein function and identify AMBN as a candidate for amelogenesis imperfect in humans.2015-10-03
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceAMBN_HUMANAMBN_PIG44744767.111001211144714218E-136479
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
AMBN_HUMANIPR007798GO:0030345FamilyAmeloblastin precursorMolecular Functionstructural constituent of tooth enamel
AMBN_HUMANIPR007798GO:0042475FamilyAmeloblastin precursorBiological Processodontogenesis of dentin-containing tooth
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




gpmDB

Evidence File
/mnt/mpp/ms_data/Q9NP70_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q9NP70_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB