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

AMY1C Gene

protein-coding   GIFtS: 49
GCID: GC01P104292

amylase, alpha 1C (salivary)

(Previous names: amylase, alpha 1C; salivary )
(Previous symbol: AMY1)
 Explore 8 diseases affiliated with
AMY1C via our new
 Human Malady Compendium 
Biological research products
for AMY1C
    

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

Aliases
Amylase, Alpha 1C (Salivary)1 2     Amylase, Alpha 1C; Salivary1
AMY11 2 3     Alpha-Amylase 12
Salivary Alpha-Amylase2 3     Amylase, Salivary, Alpha-1C2
1,4-Alpha-D-Glucan Glucanohydrolase 12 3     Glycogenase1
EC 3.2.1.13 8     Salivary Amylase Alpha 1C2

External Ids:    HGNC: 4761   Entrez Gene: 2782   Ensembl: ENSG000001877337   OMIM: 1047025   UniProtKB: P047453   

Export aliases for AMY1C gene to outside databases

Previous GC identifers: GC01U990009 GC01P104093


(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 AMY1C:
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)




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMY1C gene promoter:
         TBP   RP58   Sox5   Nkx2-2   Brachyury   CUTL1   Nkx2-5   RORalpha2   POU2F1   POU2F1a   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMY1C


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

AMY1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMY1C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P104292:  view genomic region     (about GC identifiers)

Start:
104,292,441 bp from pter      End:
104,301,312 bp from pter
Size:
8,872 bases      Orientation:
plus strand

(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: 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
Subcellular location: Secreted
6/13 PDB 3D structures from and Proteopedia for AMY1C (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 AMY1C: NX_P04745

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04745

  • 4/22 DME Specific Peptides for AMY1C (P04745) (see all 22)
     YMNHLID  GVRIYVD  YCDVISG  DNHDNQR 

    AMY1C Protein expression data from MOPED and PaxDb:    About this image 
    AMY1C Protein Expression
    REFSEQ proteins: NP_001008220.1  
    ENSEMBL proteins: 
     ENSP00000359096  
    Reactome Protein details: P04745
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    Uscn Proteins for AMY1C

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    AMY1C for ontologies           About GeneDecksing



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

    AMY1C for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR006046 Alpha_amylase
     IPR015902 Glyco_hydro_13
     IPR006048 A-amylase_b_C
     IPR017853 Glycoside_hydrolase_SF
     IPR006589 Glyco_hydro_13_sub_cat_dom

    Graphical View of Domain Structure for InterPro Entry P04745

    ProtoNet protein and cluster: P04745

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


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


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

    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 AMY1C:
    amylase,alpha-1C,salivary,see AMY@

         Enzyme Number (IUBMB): EC 3.2.1.11 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004556alpha-amylase activity IEA--
    GO:0005515protein binding IPI16203048
    GO:0043169cation binding ----
    GO:0046872metal ion binding IEA--
         
    AMY1C for ontologies           About GeneDecksing


    Animal Models:
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    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Carbohydrate digestion and absorption
    Carbohydrate digestion and absorption1.00
    2Glucuronidation
    Starch and sucrose metabolism0.42
    3Metabolism
    Metabolic pathways0.38
    4Gastric acid secretion
    Salivary secretion0.35

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for AMY1C
        Metabolism of carbohydrates
    Digestion of dietary carbohydrate
    Metabolism


    4         Kegg Pathways  (Kegg details for AMY1C):
        Starch and sucrose metabolism
    Metabolic pathways
    Salivary secretion
    Carbohydrate digestion and absorption


    AMY1C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMY1C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/11 Interacting proteins for AMY1C (P047451, 3 ENSP000003590964) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC7Q8TAX71, 3EBI-738586,EBI-738582 I2D: score=2 
    AKAP1Q926673I2D: score=2 
    AKAP8O438233I2D: score=2 
    CDK2AP1O145193I2D: score=2 
    C12orf44Q9BSB43I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0007586digestion TAS2423416

    AMY1C for ontologies           About GeneDecksing



    (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 AMY1C
    Search CenterWatch for drugs/clinical trials and news about AMY1C / AMY1 

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for AMY1C gene: 
    NM_001008219.1  

    Unigene Cluster for AMY1C:

    Amylase, alpha 1C (salivary)
    Hs.655232  [show with all ESTs]
    Unigene Representative Sequence: NM_004038
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370079(uc001duy.3 uc001duz.3)

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    Additional cDNA sequence: 

    AK292341.1 AK313275.1 BC063129.1 BC069347.1 BC069463.1 BC070302.1 BC092444.1 BC132985.1 
    BC132987.1 BC132995.1 BC132997.1 BC144452.1 

    24/26 DOTS entries (see all 26):

    DT.100892344  DT.449355  DT.100753929  DT.95161677  DT.100685110  DT.121339825  DT.121339826  DT.121339910 
    DT.121339927  DT.75131378  DT.100892342  DT.121339828  DT.121339943  DT.92447694  DT.121339884  DT.92061564 
    DT.100844046  DT.121339819  DT.121339847  DT.121339887  DT.121339952  DT.92447700  DT.100736242  DT.121339951 

    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™, 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

    AMY1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    AMY1C Expression
    About this image
    See AMY1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMY1C

    SOURCE GeneReport for Unigene cluster: Hs.655232
        SABiosciences Custom PCR Arrays for AMY1C

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    (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 animals.

    Orthologs for AMY1C gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NF53_CHICK6
    F1NW02_CHICK6
    amylase, alpha 1A salivary
    83(a)
    79(a)
    many ↔ many
    many ↔ many
    8(38904-43343)
    8(11738273-11744621)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    79(a)
    1 → many
    4(85539622-85554936)
    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)
    17(42998722-43003011)
    fruit fly
    (Drosophila melanogaster)
    Insecta Amy-p1 Amylase proximal 56.28(n)
    57.05(a)
      47764  NM_080421.3  NP_536346.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C50B6.71 Protein C50B6.7 54.99(n)
    49.59(a)
      179813  NM_073902.2  NP_506303.1 


    ENSEMBL Gene Tree for AMY1C (if available)
    TreeFam Gene Tree for AMY1C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMY1C gene
    AMY1A1 2  AMY1B1 2  AMY2A2  AMY2B2  
    4 SIMAP similar genes for AMY1C using alignment to 1 protein entry:     AMY1_HUMAN:
    AMY1B    AMY1A    AMY2B    AMY2A

    AMY1C for paralogs           About GeneDecksing



    (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

    10/12 NCBI SNPs in AMY1C are shown (see all 12    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1399118621,2
    C,F--104297206(+) ATGGCG/ACTGGA 2 /T /A mis11Minor allele frequency- A:0.00NA 3928
    rs1457923611,2
    C,F--104297224(+) CTATAC/GTTACC 2 L V mis11Minor allele frequency- G:0.00NA 4180
    rs1442887241,2
    C,F--104297239(+) GGGATG/ACTAGG 2 /T /A mis11Minor allele frequency- A:0.00NA 4442
    rs1513055781,2
    C,F--104297384(+) TGGATT/ATACAC 2 /Y /F mis12Minor allele frequency- A:0.01NA EU 4347
    rs1403636021,2
    C,F--104297389(+) TTACAC/TGAGTA 2 R * stg12Minor allele frequency- T:0.00NA EU 4167
    rs1128614601,2
    C--104297867(-) CCATAC/TAACTT 1 -- int10--------
    rs2013145501,2
    ----104297078(+) ACTATT/AGTGAA 1 -- int11Minor allele frequency- A:0.00EU 897
    rs2001049531,2
    ----104298705(+) TATTCC/TCATTT 1 -- int10--------
    rs2014296281,2
    ----104297382(+) TATGGA/TTTTAC 2 G syn11Minor allele frequency- T:0.00EU 973
    rs2019678631,2
    ----104297162(+) CAGAGC/TGCTTG 2 A V mis11Minor allele frequency- T:0.00EU 1299

    HapMap Linkage Disequilibrium report for AMY1C (104292441 - 104301312 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for AMY1C
         15/16 CNVs (see all 16): 69238 69229 0012 3302 0681 30393 2048 84396 48067 48068 74585 84395 69236 31636 4238
         1 Inversion: 37075

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    (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

    AMY1C for disorders           About GeneDecksing

    OMIM gene information: 104702    OMIM disorders: --

    8 diseases for AMY1C:    About MalaCards
    ovarian serous cystadenocarcinoma    serous cystadenocarcinoma    dental caries    sialadenitis
    mucoepidermoid carcinoma    cystadenocarcinoma    pancreatitis    carcinoma


    Export disorders for AMY1C 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)
    About This Section

    PubMed articles for AMY1C gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with AMY1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Concerted evolution of human amylase genes. (PubMed id 2452973)1, 2 Gumucio D.L....Meisler M.H. (1988)
    2. Primary structure of human salivary alpha-amylase gene. (PubMed id 2423416)1, 2 Nishide T....Matsubara K. (1986)
    3. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    4. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (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. (2006)
    7. Two-hybrid analysis of human salivary mucin MUC7 interactions. (PubMed id 16203048)1 Bruno L.S....Offner G.D. (2005)
    8. Detection of large-scale variation in the human genome. (PubMed id 15286789)1 Iafrate A.J....Lee C. (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. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 278 HGNC: 476 Ensembl:ENSG00000187733 euGenes: HUgn278 ECgene: AMY1C Kegg: 278
    H-InvDB: AMY1C

    (According to HUGE)
    About This Section
      --

    (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 AMY1C Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Amylase

    (Patent information from GeneIP,
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    Patent Information for AMY1C gene:
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