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

Gene ID: 276, updated on 26-Feb-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (103655519..103664554)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (103504385..103513421)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults. Zhang X, et al. Genes Genomics, 2023 Jul. PMID 37043131
  2. Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants. Nayema Z, et al. J Hum Genet, 2023 May. PMID 36599956, Free PMC Article
  3. Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study. Yamane N, et al. J Prev Alzheimers Dis, 2022. PMID 36281680
  4. The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study. Tajima T, et al. Hypertens Res, 2022 Aug. PMID 35732824
  5. Dietary carbohydrates interact with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults. Shin D, et al. Sci Rep, 2021 Aug 18. PMID 34408213, Free PMC Article

See all (107) 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)

Genotypes

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_2023_10

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

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