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

    Gene ID: 278, updated on 28-Oct-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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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