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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMTN Gene

protein-coding   GIFtS: 38
GCID: GC04P071419

amelotin
 Explore 3 diseases affiliated with
AMTN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AMTN    

Aliases
for AMTN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Amelotin1
RSTI6891 2
UNQ6891 2

External Ids:    HGNC: 331881   Entrez Gene: 4011382   Ensembl: ENSG000001876897   OMIM: 6109125   UniProtKB: Q6UX393   

Export aliases for AMTN gene to outside databases

Previous GC identifer: GC04P067186


Summaries
for AMTN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AMTN:
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)

UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39
Function: Could be a cell adhesion protein involved in the maturation of tooth enamel




Genomic Views
for AMTN gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_022778.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMTN gene promoter:
         Nkx3-1   STAT1   Nkx3-1 v4   Nkx3-1 v1   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   Chx10   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AMTN promoter sequence
   Search SABiosciences Chromatin IP Primers for AMTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

AMTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMTN gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071419:  view genomic region     (about GC identifiers)

Start:
 71,384,257 bp from pter      End:
 71,398,459 bp from pter
Size:
 14,203 bases      Orientation:
 plus strand

Proteins
for AMTN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39 (See protein sequence)
Recommended Name: Amelotin precursor  
Size: 209 amino acids; 21588 Da
Subcellular location: Secreted (Probable)
Secondary accessions: Q0P503 Q0P506
Alternative splicing: 2 isoforms:  Q6UX39-1   Q6UX39-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMTN: NX_Q6UX39

Post-translational modifications:

  • O-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UX39

    • AMTN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_997722.1  
    ENSEMBL proteins: 
     ENSP00000341013   ENSP00000422452  

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    Uscn Proteins for AMTN

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ISS16787391
    GO:0005605basal lamina ISS16787391
    GO:0005911cell-cell junction ISS16787391


    AMTN for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AMTN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q6UX39

    UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39
    Similarity: Belongs to the amelotin family


    Function
    for AMTN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39
    Function: Could be a cell adhesion protein involved in the maturation of tooth enamel

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    AMTN for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Amtntm1Lex for AMTN
         1 MGI phenotypic allele for Amtn (no phenotypes)

    AMTN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AMTN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMTN

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0031214biomineral tissue development IEA--
    GO:0042475odontogenesis of dentin-containing tooth ISS16304441


    AMTN for ontologies           About GeneDecksing



    Drugs & Compounds
    for AMTN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AMTN
    Search CenterWatch for drugs/clinical trials and news about AMTN 

    Transcripts
    for AMTN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section
    REFSEQ mRNAs for AMTN gene: 
    NM_212557.2  

    Unigene Cluster for AMTN:

    Amelotin
    Hs.453069  [show with all ESTs]
    Unigene Representative Sequence: AY358528
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339336(uc003hfk.1 uc010ihy.1) ENST00000504451

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    hsa-miR-513a-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB593161.1 AY358528.1 BC121812.1 BC121817.1 

    1 DOTS entry:

    DT.97766005 

    5 AceView cDNA sequences:

    BU727294 BM688820 NM_212557 AY358528 BF664579 

    GeneLoc Exon Structure


    Expression
    for AMTN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMTN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAATCTTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AMTN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AMTN Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.453069
        SABiosciences Custom PCR Arrays for AMTN
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    In Situ
    Assay Products:     
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    Orthologs
    for AMTN gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of human and mouse.

    Orthologs for AMTN gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Amtn1 , 5 amelotin1, 5 76.6(n)1
    61.06(a)1    		   5 (43.56 cM)5
    714211  NM_027793.11  NP_082069.11 
     883761085 


    ENSEMBL Gene Tree for AMTN (if available)
    TreeFam Gene Tree for AMTN (if available) 

    Paralogs
    for AMTN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AMTN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMTN
    DNA2.0 Custom Variant and Variant Library Synthesis for AMTN

    Disorders / Diseases
    for AMTN gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AMTN for disorders           About GeneDecksing

    OMIM gene information: 610912    OMIM disorders: --

    3 diseases for AMTN:    About MalaCards
    amelogenesis imperfecta    dental fluorosis    exotropia

    3 diseases from the University of Copenhagen DISEASES database for AMTN:
    Amelogenesis imperfecta     Dental fluorosis     Exotropia

    Export disorders for AMTN gene to outside databases

    Publications
    for AMTN gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMTN gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AMTN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Amelotin--a Novel Secreted, Ameloblast-specific Protein. (PubMed id 16304441)1, 3 Iwasaki K....Ganss B. (2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    6. Cloning of rat amelotin and localization of the protein to the basal lamina of maturation stage ameloblasts and junctional epithelium. (PubMed id 16787391)1 Moffatt P....Nanci A. (2006)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for AMTN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AMTN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 401138 HGNC: 33188 AceView: UNQ689 Ensembl:ENSG00000187689 euGenes: HUgn401138
    ECgene: AMTN H-InvDB: AMTN

    Other Databases showing AMTN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AMTN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMTN Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AMTN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AMTN gene:
    Search GeneIP for patents involving AMTN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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