AMY1A (amylase alpha 1A)

2014-01-01  

Identity

HGNC
AMY1A
LOCATION
1p21.1
LOCUSID
276
ALIAS
AMY1

Other Information

Locus ID:

NCBI: 276
MIM: 104700
HGNC: 474
Ensembl: ENSG00000237763

Variants:

dbSNP: 276
ClinVar: 276
TCGA: ENSG00000237763
COSMIC: AMY1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000237763ENST00000370083P04745
ENSG00000237763ENST00000422549Q5T084
ENSG00000237763ENST00000430659Q5T085

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365999562023Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.0
370431312023Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.1
371966022023Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.1
381471842023Dental caries prevalence and severity positively associate with AMY1 gene copy number.1
365999562023Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.0
370431312023Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.1
371966022023Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.1
381471842023Dental caries prevalence and severity positively associate with AMY1 gene copy number.1
357328242022The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.3
362816802022Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.2
357328242022The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.3
362816802022Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.2
334327782021Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.0
337358652021Amylase Alpha 1 Gene (AMY1) Copy Number Variation and Dental Caries Experience: A Pilot Study among Adults in Lithuania.3
344082132021Dietary carbohydrates interact with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults.4

Citation

Dessen P

AMY1A (amylase alpha 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53776/gene-fusions-explorer/js/lib/all.min.js