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AMY1B Gene

protein-coding   GIFtS: 47
GCID: GC01M104230

Amylase, Alpha 1B (Salivary)

(Previous names: amylase, alpha 1B; salivary)
(Previous symbol: AMY1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amylase, Alpha 1B (Salivary)1 2     Amylase, Alpha 1B; Salivary1
AMY11 2 3     Alpha-Amylase 12
Salivary Alpha-Amylase2 3     Amylase, Salivary, Alpha-1B2
1,4-Alpha-D-Glucan Glucanohydrolase 12 3     glycogenase2
EC 3.2.1.13 8     Salivary Amylase Alpha 1B2

External Ids:    HGNC: 4751   Entrez Gene: 2772   Ensembl: ENSG000001748767   OMIM: 1047015   UniProtKB: P047453   

Export aliases for AMY1B gene to outside databases

Previous GC identifers: GC01U990008 GC01M104031


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AMY1B Gene:
Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides,
and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of
several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes
an amylase isoenzyme produced by the salivary gland. (provided by RefSeq, Jul 2008)

GeneCards Summary for AMY1B Gene:
AMY1B (amylase, alpha 1B (salivary)) is a protein-coding gene. An important paralog of this gene is AMY1A.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the AMY1B gene promoter:
         RP58   HTF   Brachyury   FOXJ2 (long isoform)   FOXJ2   Nkx2-5   RORalpha2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AMY1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMY1B


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

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p21.1   HGNC cytogenetic band: 1p21

AMY1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMY1B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M104230:  view genomic region     (about GC identifiers)

Start:
104,230,037 bp from pter      End:
104,239,302 bp from pter
Size:
9,266 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AMY1_HUMAN, P04745 (See protein sequence)
Recommended Name: Alpha-amylase 1 precursor  
Size: 511 amino acids; 57768 Da
Cofactor: Binds 1 calcium ion per subunit
Cofactor: Binds 1 chloride ion per subunit
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for AMY1B (see all 13):
1C8Q (3D)        1JXJ (3D)        1JXK (3D)        1MFU (3D)        1MFV (3D)        1NM9 (3D)    
Secondary accessions: A6NJS5 A8K8H6 Q13763 Q5T083

Explore the universe of human proteins at neXtProt for AMY1B: NX_P04745

Explore proteomics data for AMY1B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn427, Asn476
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AMY1B (P04745) (see all 22)
     YMNHLID  GVRIYVD  YCDVISG  DNHDNQR 


    See AMY1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001008219.1  
    ENSEMBL proteins: 
     ENSP00000359097   ENSP00000390219   ENSP00000393584   ENSP00000330484  
    Reactome Protein details: P04745

    AMY1B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for AMY1B

     
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    antibodies-online proteins for AMY1B (2 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR006046 Alpha_amylase
     IPR006048 A-amylase_b_C
     IPR017853 Glycoside_hydrolase_SF
     IPR006047 Glyco_hydro_13_cat_dom
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P04745

    ProtoNet protein and cluster: P04745

    3 Blocks protein domains:
    IPB006046 Alpha-amylase signature
    IPB006048 Alpha amylase
    IPB006589 Alpha amylase


    UniProtKB/Swiss-Prot: AMY1_HUMAN, P04745
    Similarity: Belongs to the glycosyl hydrolase 13 family


    Find genes that share domains with AMY1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMY1_HUMAN, P04745
    Catalytic activity: Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or
    more (1->4)-alpha-linked D-glucose units

         Genatlas biochemistry entry for AMY1B:
    amylase,alpha-1B,salivary,see AMY@

         Enzyme Number (IUBMB): EC 3.2.1.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004556alpha-amylase activity ----
    GO:0005515protein binding ----
    GO:0043169cation binding ----
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with AMY1B           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AMY1B

    miRNA
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    miRTarBase miRNAs that target AMY1B:
    hsa-mir-335-5p (MIRT018879)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AMY1_HUMAN, P04745: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----

    Find genes that share ontologies with AMY1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AMY1B About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Glucuronidation
    Starch and sucrose metabolism0.41
    4Salivary secretion
    Salivary secretion0.34
    5Digestion of dietary carbohydrate
    Digestion of dietary carbohydrate


    Find genes that share SuperPaths with AMY1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for AMY1B
        Digestion of dietary carbohydrate


    4 Kegg Pathways  (Kegg details for AMY1B):
        Starch and sucrose metabolism
    Metabolic pathways
    Salivary secretion
    Carbohydrate digestion and absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMY1B
    Interactions:

        Search GeneGlobe Interaction Network for AMY1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for AMY1B (P047451, 3 ENSP000003304844) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC7Q8TAX71, 3EBI-738586,EBI-738582 I2D: score=2 
    CDK2AP1O145193, ENSP000002616924I2D: score=2 STRING: ENSP00000261692
    AKAP1Q926673I2D: score=2 
    AKAP8O438233I2D: score=2 
    ATG101Q9BSB43I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0007586digestion ----

    Find genes that share ontologies with AMY1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AMY1B (AMY1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AMY1B gene: 
    NM_001008218.1  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370080(uc001dux.1) ENST00000464691 ENST00000446703 ENST00000425410
    ENST00000330330(uc001duw.1)
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    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AMY1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AMY1B Expression
    About this image

    AMY1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMY1B Protein Expression
        Custom PCR Arrays for AMY1B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMY1B

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for AMY1B gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AMY2A6
    AMY1A6
    Gallus gallus amylase, alpha 2A; pancreatic (AMY2A...
    Gallus gallus amylase, alpha 1A; salivary (AMY1A),...
    83(a)
    79(a)
    many ↔ many
    many ↔ many
    8(41570-46009)
    8(10001375-10007677)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    80(a)
    1 → many
    4(85537665-85554909)
    zebrafish
    (Danio rerio)
    Actinopterygii amy2a6
    zgc:921376
    (see all 3)
    zgc:92137
    (see all 3)
    74(a)
    69(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(15433338-15447555) ENSDARG00000013856
    17(42998722-43003011) ENSDARG00000009443
    fruit fly
    (Drosophila melanogaster)
    Insecta Amy-p6
    Amy-d6
    (see all 3)
    Amylase distal
    (see all 3)
    55(a)
    55(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(13006211-13007808)
    2R(13012267-13013887)
    worm
    (Caenorhabditis elegans)
    Secernentea C50B6.76
    Protein C50B6.7 (C50B6.7) mRNA, complete cds
    33(a)
    1 → many
    V(13322367-13324970) WBGene00008220
            Species with no ortholog for AMY1B

    ENSEMBL Gene Tree for AMY1B (if available)
    TreeFam Gene Tree for AMY1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMY1B gene
    AMY1A1 2  AMY1C1 2  AMY2A2  AMY2B2  
    4 SIMAP similar genes for AMY1B using alignment to 2 protein entries:     AMY1_HUMAN (see all proteins):
    AMY1C    AMY1A    AMY2B    AMY2A

    Find genes that share paralogs with AMY1B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    2 SNPs for AMY1B    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1999424811,2
    --104237672(+) ATTTAC/TAGCTA 2 Y C mis10--------
    rs3698995841,2
    ----104239272(+) CTTCCA/GTATTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMY1B (104230037 - 104239302 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AMY1B (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715585CNV Deletion23290073
    nsv471346CNV Duplication19718026
    nsv471437CNV Duplication19718026
    dgv1n31CNV Duplication19718026
    nsv871973CNV Loss21882294
    nsv871791CNV Loss21882294
    dgv304n71CNV Loss21882294
    dgv305n71CNV Loss21882294
    dgv302n71CNV Loss21882294
    dgv3n14CNV Loss18776910

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing AMY1B
    DNA2.0 Custom Variant and Variant Library Synthesis for AMY1B

    (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.)
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    OMIM gene information: 104701    OMIM disorders: --


    Find genes that share disorders with AMY1B           About GenesLikeMe

    Genetic Association Database (GAD): AMY1B
    Human Genome Epidemiology (HuGE) Navigator: AMY1B (1 document)

    Export disorders for AMY1B gene to outside databases

    (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)
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    PubMed articles for AMY1B gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with AMY1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication). (PubMed id 16152770)1, 4 Baltova S.D. (Folia Med (Plovdiv) 2005)
    2. Concerted evolution of human amylase genes. (PubMed id 2452973)1, 2 Gumucio D.L....Meisler M.H. (Mol. Cell. Biol. 1988)
    3. Primary structure of human salivary alpha-amylase gene. (PubMed id 2423416)1, 2 Nishide T....Matsubara K. (Gene 1986)
    4. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)2 Ramachandran P....Loo J.A. (J. Proteome Res. 2006)
    7. Two-hybrid analysis of human salivary mucin MUC7 interactions. (PubMed id 16203048)1 Bruno L.S....Offner G.D. (Biochim. Biophys. Acta 2005)
    8. Detection of large-scale variation in the human genome. (PubMed id 15286789)1 Iafrate A.J....Lee C. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 277 HGNC: 475 Ensembl:ENSG00000174876 euGenes: HUgn277 ECgene: AMY1B Kegg: 277
    H-InvDB: AMY1B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AMY1B Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Amylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AMY1B gene:
    Search GeneIP for patents involving AMY1B

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



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