AMY1A: Alpha-Amylase 1A – Salivary and Pancreatic Amylase Gene
A key enzyme in starch digestion, encoded by AMY1A, with implications in metabolic health and nutritional adaptation.
Gene Information Card
| Symbol | AMY1A |
|---|---|
| Full Name | Amylase Alpha 1A |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 276 ncbi.nlm.nih.gov/gene/276 |
| Ensembl ID | ENSG00000174876 |
| UniProt ID | P04745 |
| OMIM ID | 104700 |
| HGNC ID | 474 |
| Aliases | AMY1, AMY1B, AMY1C |
Description
AMY1A encodes alpha-amylase 1A, a member of the glycosyl hydrolase family 13. This enzyme catalyzes the hydrolysis of internal alpha-1,4-glycosidic linkages in starch and glycogen, initiating the digestion of dietary carbohydrates. The gene is part of a cluster on chromosome 1 that includes AMY1B and AMY1C, and its copy number varies among individuals, influencing salivary amylase levels and starch digestion efficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Low AMY1A copy number is associated with reduced salivary amylase activity, potentially affecting starch metabolism and increasing obesity risk. | ClinVar, OMIM |
| Type 2 Diabetes | Altered AMY1A copy number may influence postprandial glucose responses and insulin sensitivity, contributing to diabetes susceptibility. | ClinVar, OMIM |
| Pancreatic Insufficiency | Reduced amylase activity, including AMY1A, can impair carbohydrate digestion in conditions like chronic pancreatitis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary Gland | High (nTPM ~ 1000) | Predominant expression in salivary glands |
| Pancreas | Moderate (nTPM ~ 100) | Expressed in pancreatic acinar cells |
| Liver | Low (nTPM ~ 1) | Minimal expression |
| Kidney | Low (nTPM ~ 0.5) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Salivary gland acinar cells | High | Major source of salivary amylase |
| Pancreatic acinar cells | Moderate | Contributes to pancreatic amylase |
| HepG2 (liver) | Low | Minimal expression |
| HEK293 (kidney) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Copy number variation (CNV) | Structural variant | Common in population | Alters gene dosage and amylase activity; low CNV linked to metabolic disorders |
| rs11185098 | SNP | Minor allele frequency ~0.3 | Associated with AMY1A expression levels |
| rs6696797 | SNP | Minor allele frequency ~0.2 | May influence salivary amylase concentration |
Mutation functional classification
Loss of Function (LOF)
Complete loss of AMY1A function is rare; however, low copy number can lead to reduced amylase activity, impairing starch digestion.
Gain of Function (GOF)
High copy number increases amylase production, enhancing starch digestion efficiency, but may contribute to dental caries risk.
Dominant Negative (DN)
No dominant-negative mutations reported for AMY1A.
View complete mutation data：
Gene Ontology (GO)
| • alpha-amylase activity | • calcium ion binding |
| • carbohydrate binding | • hydrolase activity |
| • acting on glycosyl bonds | • extracellular region |
| • extracellular space | • amylase activity |
Pathways
• Starch and sucrose metabolism
• Carbohydrate digestion and absorption
• Salivary secretion
• Pancreatic secretion
Protein Summary
Alpha-amylase 1A is a secreted enzyme that hydrolyzes starch into maltose and glucose. It is a calcium-binding protein with a conserved catalytic domain. In humans, it is primarily produced by salivary glands and the pancreas, playing a critical role in the initial steps of carbohydrate digestion. The protein structure includes an A-domain (TIM barrel), a B-domain (calcium-binding), and a C-domain (beta-sheet).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMY1A Knockout HEK293 Cell Line | EDJ-KQ50117 | Human | 276 | Details Get a Quote |
| AMY1A Knockout HeLa Cell Line | EDJ-KQ52612 | Human | 276 | Details Get a Quote |
| AMY1A Knockout A-549 Cell Line | EDJ-KQ61091 | Human | 276 | Details Get a Quote |
| AMY1A Knockout HCT 116 Cell Line | EDJ-KQ69574 | Human | 276 | Details Get a Quote |
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