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AMY1C amylase alpha 1C [ Homo sapiens (human) ]

Gene ID: 278, updated on 2-Nov-2024

Summary

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Official Symbol
AMY1Cprovided by HGNC
Official Full Name
amylase alpha 1Cprovided by HGNC
Primary source
HGNC:HGNC:476
See related
Ensembl:ENSG00000187733 MIM:104702; AllianceGenome:HGNC:476
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. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward salivary gland (RPKM 4629.9) See more
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Genomic context

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See AMY1C in Genome Data Viewer
Location:
1p21.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (103749654..103758692)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (103786793..103795831)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (104292276..104301314)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378878 Neighboring gene amylase alpha pseudogene 1 Neighboring gene adaptor related protein complex 2 subunit beta 1 pseudogene Neighboring gene THAP3 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. AMY1 Gene Copy Number Correlates With Glucose Absorption and Visceral Fat Volume, but Not with Insulin Resistance. Barber TM, et al. J Clin Endocrinol Metab, 2020 Oct 1. PMID 32697825
  2. Salivary α-amylase copy number is not associated with weight trajectories and glycemic improvements following clinical weight loss: results from a 2-phase dietary intervention study. Valsesia A, et al. Am J Clin Nutr, 2019 Apr 1. PMID 30982860
  3. Evidence of duplication of the human salivary amylase gene. Pronk JC, et al. Hum Genet, 1982. PMID 6176528
  4. Probing the role of a mobile loop in substrate binding and enzyme activity of human salivary amylase. Ramasubbu N, et al. J Mol Biol, 2003 Jan 31. PMID 12527308
  5. Salivary alpha amylase diurnal pattern and stress response are associated with body mass index in low-income preschool-aged children. Miller AL, et al. Psychoneuroendocrinology, 2015 Mar. PMID 25588701, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AMY1 Gene Copy Number Correlates With Glucose Absorption and Visceral Fat Volume, but Not with Insulin Resistance.
    Title: AMY1 Gene Copy Number Correlates With Glucose Absorption and Visceral Fat Volume, but Not with Insulin Resistance.
  2. At baseline, a modest association between AMY1 gene copy number and BMI (P = 0.04) was observed but AMY1 gene copy was not associated with baseline glycemic variables.
    Title: Salivary α-amylase copy number is not associated with weight trajectories and glycemic improvements following clinical weight loss: results from a 2-phase dietary intervention study.
  3. Diurnal and stress-response salivary alpha amylase patterns were related to child adiposity: decreased morning alpha amylase was associated with increased BMI.
    Title: Salivary alpha amylase diurnal pattern and stress response are associated with body mass index in low-income preschool-aged children.
  4. results show a strong association between acute physical stressor-induced elevations in sAA levels and patients with MDD.
    Title: Salivary alpha-amylase and cortisol responsiveness following electrical stimulation stress in major depressive disorder patients.
  5. These findings confirm that sAA is sensitive to the effects of potentially stressful stimuli (state variance) and at the same time demonstrate its relative robustness and stability across time and conditions (trait variance).
    Title: State and trait variance in salivary α-amylase: a behavioral genetic study.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 PubMed 
located_in extracellular space HDA 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 1C
Names
1,4-alpha-D-glucan glucanohydrolase 1
alpha-amylase 1
alpha-amylase 1A
amylase alpha 1C (salivary)
amylase, salivary, alpha-1C
glycogenase
salivary alpha-amylase
salivary amylase alpha 1C
NP_001008220.1
NP_001333709.1

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)

  1. NM_001008219.3 → NP_001008220.1  alpha-amylase 1C precursor

    See identical proteins and their annotated locations for NP_001008220.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer variant. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL513482
    Consensus CDS
    CCDS30784.1
    UniProtKB/Swiss-Prot
    A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083
    UniProtKB/TrEMBL
    B7ZMD7
    Related
    ENSP00000481450.2, ENST00000622339.5
    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

  2. NM_001346780.1 → NP_001333709.1  alpha-amylase 1C precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL513482
    Consensus CDS
    CCDS30784.1
    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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    103749654..103758692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    103786793..103795831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DTE8.1 GenPept UniProtKB/Swiss-Prot:P0DTE8

Gene LinkOut

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