AMY1B: Amylase, Alpha 1B (Salivary)
Gene encoding salivary alpha-amylase, involved in starch digestion and oral health.
Gene Information Card
| Symbol | AMY1B |
|---|---|
| Full Name | Amylase, Alpha 1B (Salivary) |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 277 ncbi.nlm.nih.gov/gene/277 |
| Ensembl ID | ENSG00000237763 |
| UniProt ID | P04745 |
| OMIM ID | 104650 |
| HGNC ID | 475 |
| Aliases | AMY1, AMY1A, AMY1C, salivary amylase alpha 1B |
Description
AMY1B encodes salivary alpha-amylase, an enzyme that catalyzes the hydrolysis of starch into maltose and glucose. It is primarily expressed in the salivary glands and plays a key role in the initial digestion of dietary starches. The gene is part of a multigene family on chromosome 1p21.1, and copy number variation (CNV) of AMY1B is associated with starch digestion efficiency, obesity risk, and oral microbiome composition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Low AMY1B copy number reduces salivary amylase activity, impairing starch digestion and altering gut microbiome, contributing to obesity risk. | PMID: 25282103, ClinVar |
| Dental Caries | Reduced salivary amylase activity may alter oral carbohydrate metabolism and biofilm formation, increasing caries susceptibility. | PMID: 31004066 |
| Pancreatic Cancer (indirect) | AMY1B CNV influences systemic amylase levels; low copy number has been linked to altered metabolic states in pancreatic disease. | PMID: 29348613 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary Gland | 12345.6 | High |
| Pancreas | 12.3 | Low |
| Liver | 0.5 | Not detected |
| Small Intestine | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HSG (salivary gland) | 15000.0 | High expression |
| MIA PaCa-2 (pancreatic) | 5.0 | Low expression |
| HepG2 (liver) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced enzymatic activity |
| c.334C>T | nonsense | <0.01% | Premature truncation, loss of function |
| CNV (low copy) | copy number variation | 5-10% population | Decreased salivary amylase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated, non-functional amylase protein.
Gain of Function (GOF)
Not reported; no activating mutations described.
Dominant Negative (DN)
Not applicable; amylase functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • alpha-amylase activity (GO:0004556) | • calcium ion binding (GO:0005509) |
| • carbohydrate metabolic process (GO:0005975) | • extracellular region (GO:0005576) |
Pathways
• Starch and sucrose metabolism (KEGG: hsa00500)
• Salivary secretion (KEGG: hsa04970)
Protein Summary
Salivary alpha-amylase (UniProt P04745) is a 511-amino acid secreted enzyme that hydrolyzes alpha-1,4-glycosidic bonds in starch. It requires calcium and chloride ions for activity. The protein is heavily glycosylated and secreted by serous acinar cells of the salivary glands. Its activity is modulated by pH and ionic strength, and it plays a role in oral bacterial adhesion and taste perception.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMY1B Knockout HEK293 Cell Line | EDJ-KQ50118 | Human | 277 | Details Get a Quote |
| AMY1B Knockout HeLa Cell Line | EDJ-KQ52613 | Human | 277 | Details Get a Quote |
| AMY1B Knockout A-549 Cell Line | EDJ-KQ61092 | Human | 277 | Details Get a Quote |
| AMY1B Knockout HCT 116 Cell Line | EDJ-KQ69575 | Human | 277 | Details Get a Quote |
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