AMY1A amylase alpha 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMY1Aprovided by HGNC
Official Full Name: amylase alpha 1Aprovided by HGNC
Primary source: HGNC:HGNC:474
See related: Ensembl:ENSG00000237763 MIM:104700; AllianceGenome:HGNC:474
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMY1
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 expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward salivary gland (RPKM 4834.2) See more
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Genomic context

Location:: 1p21.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (103655519..103664554)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (103504385..103513421)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (104198141..104207176)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dental caries prevalence and severity positively associate with AMY1 gene copy number.
Title: Dental caries prevalence and severity positively associate with AMY1 gene copy number.
Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.
Title: Salivary amylase gene (AMY1) copy number variation has only a minor correlation with body composition in Chinese adults.
Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.
Title: Associations of SLC6A4 methylation with salivary cortisol, salivary alpha-amylase, and subjective stress in everyday life.
Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.
Title: Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.
Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.
Title: Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among Japanese Older Adults: The Toon Health Study.
The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.
Title: The independent association between salivary alpha-amylase activity and arterial stiffness in Japanese men and women: the Toon Health Study.
Dietary carbohydrates interacts with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults.
Title: Dietary carbohydrates interact with AMY1 polymorphisms to influence the incidence of type 2 diabetes in Korean adults.
Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
Title: Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
Alpha-amylase 1A copy number variants and the association with memory performance and Alzheimer's dementia.
Title: Alpha-amylase 1A copy number variants and the association with memory performance and Alzheimer's dementia.
Diagnostic Value of Serum Amylase Levels Indicating Computed Tomography-Defined Post-Endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Prospective Multicenter Observational Study.
Title: Diagnostic Value of Serum Amylase Levels Indicating Computed Tomography-Defined Post-Endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Prospective Multicenter Observational Study.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32938 (e-PCR)
- UniSTS:50958

NoName (e-PCR)
- UniSTS:480693

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-amylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-amylase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables chloride ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: alpha-amylase 1A

Names: 1,4-alpha-D-glucan glucanohydrolase 1; alpha-amylase 1; amylase alpha 1A (salivary); amylase, salivary, alpha-1A; glycogenase; salivary alpha-amylase; salivary amylase alpha 1A

NP_001008222.1

EC 3.2.1.1

NP_004029.2

EC 3.2.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001008221.1 → NP_001008222.1 alpha-amylase 1A precursor

See identical proteins and their annotated locations for NP_001008222.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC063129, BC070302, BX487266

Consensus CDS

CCDS30782.1

UniProtKB/Swiss-Prot

A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083

UniProtKB/TrEMBL

B7ZMD7

Conserved Domains (2) summary

cd11317
Location:25 → 416

AmyAc_bac_euk_AmyA; Alpha amylase catalytic domain found in bacterial and eukaryotic Alpha amylases (also called 1,4-alpha-D-glucan-4-glucanohydrolase)

smart00632
Location:422 → 510

Aamy_C; Aamy_C domain
NM_004038.4 → NP_004029.2 alpha-amylase 1A precursor

See identical proteins and their annotated locations for NP_004029.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC105272

Consensus CDS

CCDS30782.1

UniProtKB/Swiss-Prot

A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083

UniProtKB/TrEMBL

B7ZMD7

Related

ENSP00000359100.4, ENST00000370083.9

Conserved Domains (2) summary

cd11317
Location:25 → 416

AmyAc_bac_euk_AmyA; Alpha amylase catalytic domain found in bacterial and eukaryotic Alpha amylases (also called 1,4-alpha-D-glucan-4-glucanohydrolase)

smart00632
Location:422 → 510

Aamy_C; Aamy_C domain