HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AMY1B
amylase alpha 1B
Chromosome 1 · 1p21.1
NCBI Gene: 277Ensembl: ENSG00000174876.18HGNC: HGNC:474UniProt: P0DTE7
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oligosaccharide metabolic processalpha-amylase activitycalcium ion bindingchloride ion bindingdenturesdental cariestype 2 diabetes mellitusoropharynx cancer
✦AI Summary

AMY1B encodes salivary alpha-amylase, an enzyme responsible for starch digestion with alpha-amylase activity and calcium/chloride ion binding capabilities 1. It is part of a polymorphic multigene family on chromosome 1, organized as head-to-tail repeats with variable copy numbers across human haplotypes 2. The gene shows complex genomic organization with AMY1B uniquely in reverse orientation relative to neighboring AMY1A genes 2. AMY1B expression is developmentally regulated: it is downregulated when human minor salivary gland stem cells differentiate into functional acinar and duct cells via Wnt/BMP pathway activation 3. While serum amylase can derive from non-parotid sources including liver, parotid-specific expression requires regulatory elements extending beyond 5 kb upstream and 10 kb downstream of the promoter 4. Clinically, AMY1 copy number variation correlates with metabolic phenotypes including visceral fat volume, glucose absorption, serum HDL-cholesterol, and adiponectin levels, but not insulin resistance 5. However, copy number explains only ~12-14% of salivary amylase expression variation, suggesting substantial post-transcriptional regulation 6. AMY1B maps to fragile genomic regions susceptible to RAG-mediated chr1 rearrangements in glioblastoma 7, highlighting its role in genomic instability associated with cancer.

Sources cited
1
AMY1B expression is downregulated during salivary gland stem cell differentiation via Wnt pathway activation
PMID: 37620905
2
AMY1B is part of a polymorphic multigene family with variable copy numbers; AMY1B has reverse orientation in tandem repeats
PMID: 2788608
3
AMY1B encodes salivary amylase responsible for starch digestion as part of carbohydrate metabolism
PMID: 33432778
4
AMY1B expression requires regulatory sequences beyond 5 kb upstream and 10 kb downstream for tissue-specific expression
PMID: 2476716
5
AMY1 copy number correlates with glucose absorption, visceral fat volume, HDL-cholesterol, and adiponectin
PMID: 32697825
6
AMY1 copy number explains only 11-14% of salivary amylase expression and activity variation
PMID: 28219410
7
AMY1B localizes to fragile genomic regions susceptible to RAG-mediated recombination in glioblastoma
PMID: 41362770
Disease Associationsⓘ20
denturesOpen Targets
0.44Moderate
dental cariesOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.06Suggestive
oropharynx cancerOpen Targets
0.05Suggestive
atrophic gastritisOpen Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.05Suggestive
polycythemiaOpen Targets
0.05Suggestive
obesityOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.03Suggestive
viral pneumoniaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
skull disorderOpen Targets
0.03Suggestive
osteoarthritisOpen Targets
0.03Suggestive
disease of peritoneumOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
vertebral joint diseaseOpen Targets
0.02Suggestive
intelligenceOpen Targets
0.02Suggestive
prediabetes syndromeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMY1AProtein interaction100%GBE1Protein interaction100%SIProtein interaction99%AGLProtein interaction97%AMY2BProtein interaction97%AMY2AProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Brain
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AMY1BAMY1AGBE1SIAGLAMY2BAMY2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0DTE7
View on AlphaFold ↗
RankingsWhere AMY1B stands among ~20K protein-coding genes
  • #11,463of 20,598
    Most Researched32
Genes detectedAMY1B
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Maintenance of adult stem cells from human minor salivary glands via the Wnt signaling pathway.
PMID: 37620905
Stem Cell Res Ther · 2023
1.00
2
Recombination between fragile regions associated with chromosomal rearrangements in glioblastoma can be mediated by RAGs.
PMID: 41362770
iScience · 2025
0.89
3
The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes.
PMID: 2788608
Genomics · 1989
0.78
4
Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
PMID: 33432778
Obes Rev · 2021
0.67
5
A salivary amylase transgene is efficiently expressed in liver but not in parotid gland of transgenic mice.
PMID: 2476716
Nucleic Acids Res · 1989
0.56