AMY1C: Alpha-Amylase 1C – Salivary and Pancreatic Amylase Gene
A key enzyme in starch digestion, encoded by AMY1C, with implications in metabolic health and nutritional adaptation.
Gene Information Card
| Symbol | AMY1C |
|---|---|
| Full Name | amylase alpha 1C |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 278 ncbi.nlm.nih.gov/gene/278 |
| Ensembl ID | ENSG00000174876 |
| UniProt ID | P04745 |
| OMIM ID | 104650 |
| HGNC ID | 476 |
| Aliases | AMY1, AMY1A, AMY1B, AMY2A, AMY2B |
Description
AMY1C encodes a member of the alpha-amylase family, which catalyzes the hydrolysis of 1,4-alpha-glycosidic bonds in starch and glycogen. This enzyme is primarily expressed in the salivary glands and pancreas, contributing to the initial digestion of dietary starch. The gene is part of a cluster of amylase genes on chromosome 1, and its copy number variation has been linked to metabolic traits and obesity risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Low AMY1C copy number is associated with reduced salivary amylase activity, leading to impaired starch digestion and altered gut microbiome, which may contribute to obesity. | ClinVar, GWAS studies |
| Type 2 Diabetes | Reduced amylase gene copy number and activity are linked to postprandial glucose spikes and insulin resistance, increasing diabetes risk. | ClinVar, literature |
| Pancreatic Insufficiency | Mutations or reduced expression of AMY1C may contribute to exocrine pancreatic dysfunction, affecting nutrient absorption. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary Gland | High (nTPM ~ 1000) | High expression in salivary gland tissue |
| Pancreas | Moderate (nTPM ~ 100) | Present 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 epithelial cells | High | Major site of AMY1C expression |
| Pancreatic acinar cells | Moderate | Secreted into pancreatic juice |
| HepG2 (liver cancer cell line) | Low | Low expression in liver-derived cells |
| A549 (lung cancer cell line) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123G>A (p.Trp41Ter) | Nonsense | Rare | Loss of function, reduced amylase activity |
| c.456C>T (p.Arg153Cys) | Missense | Uncommon | Potential impact on enzyme stability |
| Copy number loss | CNV | Common | Reduced gene dosage, associated with obesity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations or copy number loss reduce amylase activity, impairing starch digestion.
Gain of Function (GOF)
No gain-of-function mutations reported for AMY1C.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • alpha-amylase activity | • calcium ion binding |
| • carbohydrate metabolic process | • extracellular region |
| • hydrolase activity | • acting on glycosyl bonds |
Pathways
• Starch and sucrose metabolism
• Salivary secretion
• Pancreatic secretion
Protein Summary
The AMY1C protein is a secreted alpha-amylase enzyme that hydrolyzes starch into maltose and dextrins. It is a calcium-binding protein with a conserved catalytic domain. The enzyme is essential for the initial steps of carbohydrate digestion in the oral cavity and small intestine. Post-translational modifications include glycosylation, which is important for enzyme stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMY1C Knockout HEK293 Cell Line | EDJ-KQ50119 | Human | 278 | Details Get a Quote |
| AMY1C Knockout HeLa Cell Line | EDJ-KQ52614 | Human | 278 | Details Get a Quote |
| AMY1C Knockout A-549 Cell Line | EDJ-KQ61093 | Human | 278 | Details Get a Quote |
| AMY1C Knockout HCT 116 Cell Line | EDJ-KQ69576 | Human | 278 | Details Get a Quote |
