AMY1C (amylase alpha 1C)

Gene

• Entrez ID: 278
• Gene name: Amylase alpha 1C
• Gene symbol: AMY1C
• Synonyms (NCBI Gene): AMY1
• Chromosome: 1
• Chromosome location: 1p21.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017937	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004556	Function	Alpha-amylase activity	IBA
GO:0004556	Function	Alpha-amylase activity	IDA	12527308
GO:0004556	Function	Alpha-amylase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	12527308, 15299664
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	15299664
GO:0005615	Component	Extracellular space	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0009311	Process	Oligosaccharide metabolic process	IDA	12527308
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0031404	Function	Chloride ion binding	IDA	12527308, 15299664
GO:0031404	Function	Chloride ion binding	IEA
GO:0043169	Function	Cation binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145

Other IDs

• MIM: 104702
• HGNC: 476
• e!Ensembl: ENSG00000187733

Interactions View interactions

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways
Salivary secretion
Pancreatic secretion
Carbohydrate digestion and absorption

Reactome:

Digestion of dietary carbohydrate

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	9258723		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	7507116		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30579062		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	30880537		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29867525, 30265076, 31464945, 31497984, 31726179		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29867525, 30265076, 31464945, 31497984, 31726179		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29159888		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29159888		★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	27876406		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30005283, 31707039		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30982860		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	25996848		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31126512		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29159888		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12104089		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12104089		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	30005283		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30005283		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	7507116		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29350481, 30605362, 7507116		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30597598, 30880537		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	30005283		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30005283, 31707039		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26341959		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24686848, 25394825, 25788522, 26098870, 26132294, 27068483, 27149670, 28101908, 28228143, 29084240, 30200782, 31056302, 31248128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric Obesity	Childhood obesity	BEFREE	26132294		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30340690		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29159888		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28190047		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29494868		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	31386987		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27876406, 31126512		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	29019550		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29977288		★☆☆☆☆ Found in Text Mining only