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    AMY1A amylase alpha 1A [ Homo sapiens (human) ]

    Gene ID: 276, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AMY1Aprovided by HGNC
    Official Full Name
    amylase alpha 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:474
    See related
    Ensembl:ENSG00000237763 MIM:104700; AllianceGenome:HGNC:474
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMY1
    Summary
    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. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward salivary gland (RPKM 4834.2) See more
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    Genomic context

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    See AMY1A in Genome Data Viewer
    Location:
    1p21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (103655519..103664554)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (103504385..103513421)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (104198141..104207176)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene amylase alpha 2B Neighboring gene actin gamma 1 pseudogene 4 Neighboring gene amylase alpha 2A Neighboring gene uncharacterized LOC124904594 Neighboring gene amylase alpha 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The roles of AMY1 copies and protein expression in human salivary α-amylase activity. Yang ZM, et al. Physiol Behav, 2015 Jan. PMID 25446200
    2. Exercise-induced noradrenergic activation enhances memory consolidation in both normal aging and patients with amnestic mild cognitive impairment. Segal SK, et al. J Alzheimers Dis, 2012. PMID 22914593, Free PMC Article
    3. Copy number polymorphism of the salivary amylase gene: implications in human nutrition research. Santos JL, et al. J Nutrigenet Nutrigenomics, 2012. PMID 22965187
    4. Salivary α-amylase and intended harsh caregiving in response to infant crying: evidence for physiological hyperreactivity. Out D, et al. Child Maltreat, 2012 Nov. PMID 23144191
    5. Amylase α-1A (AMY1A): a novel immunohistochemical marker to differentiate chromophobe renal cell carcinoma from benign oncocytoma. Jain S, et al. Am J Surg Pathol, 2013 Dec. PMID 24225843, Free PMC Article

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dental caries prevalence and severity positively associate with AMY1 gene copy number.
      Title: Dental caries prevalence and severity positively associate with AMY1 gene copy number.
    2. Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.
      Title: Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.
    3. Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.
      Title: Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.
    4. Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.
      Title: Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.
    5. Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.
      Title: Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.
    6. The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.
      Title: The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.
    7. Dietary carbohydrates interacts with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults.
      Title: Dietary carbohydrates interact with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults.
    8. Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
      Title: Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
    9. Alpha-amylase 1A copy number variants and the association with memory performance and Alzheimer's dementia.
      Title: Alpha-amylase 1A copy number variants and the association with memory performance and Alzheimer's dementia.
    10. Diagnostic Value of Serum Amylase Levels Indicating Computed Tomography-Defined Post-Endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Prospective Multicenter Observational Study.
      Title: Diagnostic Value of Serum Amylase Levels Indicating Computed Tomography-Defined Post-Endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Prospective Multicenter Observational Study.
    Submit: New GeneRIF Correction See all GeneRIFs (66)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-amylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-amylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oligosaccharide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-amylase 1A
    Names
    1,4-alpha-D-glucan glucanohydrolase 1
    alpha-amylase 1
    amylase alpha 1A (salivary)
    amylase, salivary, alpha-1A
    glycogenase
    salivary alpha-amylase
    salivary amylase alpha 1A
    NP_001008222.1
    NP_004029.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008221.1 → NP_001008222.1  alpha-amylase 1A precursor

      See identical proteins and their annotated locations for NP_001008222.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC063129, BC070302, BX487266
      Consensus CDS
      CCDS30782.1
      UniProtKB/Swiss-Prot
      A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083
      UniProtKB/TrEMBL
      B7ZMD7
      Conserved Domains (2) summary
      cd11317
      Location:25 → 416
      AmyAc_bac_euk_AmyA; Alpha amylase catalytic domain found in bacterial and eukaryotic Alpha amylases (also called 1,4-alpha-D-glucan-4-glucanohydrolase)
      smart00632
      Location:422 → 510
      Aamy_C; Aamy_C domain

    2. NM_004038.4 → NP_004029.2  alpha-amylase 1A precursor

      See identical proteins and their annotated locations for NP_004029.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC105272
      Consensus CDS
      CCDS30782.1
      UniProtKB/Swiss-Prot
      A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083
      UniProtKB/TrEMBL
      B7ZMD7
      Related
      ENSP00000359100.4, ENST00000370083.9
      Conserved Domains (2) summary
      cd11317
      Location:25 → 416
      AmyAc_bac_euk_AmyA; Alpha amylase catalytic domain found in bacterial and eukaryotic Alpha amylases (also called 1,4-alpha-D-glucan-4-glucanohydrolase)
      smart00632
      Location:422 → 510
      Aamy_C; Aamy_C domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      103655519..103664554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      103504385..103513421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DUB6.1 GenPept UniProtKB/Swiss-Prot:P0DUB6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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