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AMY1A Gene(Protein Coding)

Amylase, Alpha 1A (Salivary)

GCID:
GC01P103651
GIFtS:
50
Genes Participants
UDN Logo

Aliases for AMY1A Gene

Aliases for AMY1A Gene

  • Amylase, Alpha 1A (Salivary) 2 3 5
  • 1,4-Alpha-D-Glucan Glucanohydrolase 1 3 4
  • Salivary Alpha-Amylase 3 4
  • EC 3.2.1.1 4 61
  • AMY1 3 4
  • Amylase, Alpha 1A; Salivary 2
  • Amylase, Salivary, Alpha-1A 3
  • Salivary Amylase Alpha 1A 3
  • AMY1A AMY1B AMY1C 4
  • Alpha-Amylase 1 3
  • Glycogenase 3

External Ids for AMY1A Gene

Previous HGNC Symbols for AMY1A Gene

  • AMY1

Previous GeneCards Identifiers for AMY1A Gene

  • GC01P104923
  • GC01P105126
  • GC01P103252
  • GC01P103647
  • GC01P103553
  • GC01M103942
  • GC01P103999
  • GC01P104197
  • GC01P102238

Summaries for AMY1A Gene

Entrez Gene Summary for AMY1A Gene

  • 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]

GeneCards Summary for AMY1A Gene

AMY1A (Amylase, Alpha 1A (Salivary)) is a Protein Coding gene. Diseases associated with AMY1A include Avoidant Personality Disorder and Chromophobe Renal Cell Carcinoma. Among its related pathways are Digestion of dietary carbohydrate and Carbohydrate digestion and absorption. GO annotations related to this gene include cation binding and alpha-amylase activity. An important paralog of this gene is AMY1B.

Gene Wiki entry for AMY1A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMY1A Gene

Genomics for AMY1A Gene

Products:

  1. Regulatory Element

Regulatory Elements for AMY1A Gene


Transcription factor binding sites by QIAGEN in the AMY1A gene promoter:

Genomic Location for AMY1A Gene

Chromosome:
1
Start:
103,655,290 bp from pter
End:
103,664,554 bp from pter
Size:
9,265 bases
Orientation:
Plus strand

Genomic View for AMY1A Gene

Genes around AMY1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMY1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMY1A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AMY1A Gene

Proteins for AMY1A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for AMY1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04745-AMY1_HUMAN
    Recommended name:
    Alpha-amylase 1
    Protein Accession:
    P04745
    Secondary Accessions:
    • A6NJS5
    • A8K8H6
    • Q13763
    • Q5T083

    Protein attributes for AMY1A Gene

    Size:
    511 amino acids
    Molecular mass:
    57768 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=chloride; Xref=ChEBI:CHEBI:17996;
    Quaternary structure:
    • Monomer.
    • Monomer.
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AMY1A Gene

neXtProt entry for AMY1A Gene

Protein Expression for AMY1A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for AMY1A Gene

P04745:
  • LPAGTYCDV
  • SILTFWDAR
  • RVTEFKYGAKLGTVIRKWNGEKM
  • YMNHLID
  • GVRIYVD
  • AHFSISNS
  • QEVIDLGGE
  • DNHDNQR
  • GEKMSYLKNWGEGWG
  • RPWWERYQP
  • IVFNNDDW
  • CEHRWRQ
  • GFCWAQY
  • FMLAHPYG
  • YCDVISG
  • SNQVAFGRG
  • GFIVFNN
  • PAVPYSGWDFNDGKC
  • FRNVVDG
  • LDKLHNLN
  • AEDPFIAIH
  • QVRDCRL

Post-translational modifications for AMY1A Gene

  • Glycosylation at posLast=427427 and posLast=476476
  • Modification sites at PhosphoSitePlus

Other Protein References for AMY1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AMY1A Gene

Protein Domains for AMY1A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMY1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04745

UniProtKB/Swiss-Prot:

AMY1_HUMAN :
  • Belongs to the glycosyl hydrolase 13 family.
Family:
  • Belongs to the glycosyl hydrolase 13 family.
genes like me logo Genes that share domains with AMY1A: view

No data available for Gene Families for AMY1A Gene

Function for AMY1A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for AMY1A Gene

GENATLAS Biochemistry:
amylase,alpha-1A,salivary,see AMY@
UniProtKB/Swiss-Prot CatalyticActivity:
Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units.

Enzyme Numbers (IUBMB) for AMY1A Gene

Gene Ontology (GO) - Molecular Function for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004556 alpha-amylase activity IEA,TAS --
GO:0005515 protein binding IPI 16203048
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0043169 cation binding IEA --
genes like me logo Genes that share ontologies with AMY1A: view
genes like me logo Genes that share phenotypes with AMY1A: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AMY1A Gene

Localization for AMY1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMY1A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMY1A gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 16502470
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with AMY1A: view

Pathways & Interactions for AMY1A Gene

genes like me logo Genes that share pathways with AMY1A: view

Gene Ontology (GO) - Biological Process for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0007586 digestion TAS 2423416
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with AMY1A: view

No data available for SIGNOR curated interactions for AMY1A Gene

Drugs & Compounds for AMY1A Gene

Products:

  1. Drug

(9) Drugs for AMY1A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Pyroglutamic acid Experimental Pharma Target 0
4,6-Dideoxy-4-Amino-Alpha-D-Glucose Experimental Pharma Target 0
5-Hydroxymethyl-Chonduritol Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0

(7) Additional Compounds for AMY1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
 492-62-6
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
 16887-00-6
Dextrin
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
 9004-53-9
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
 9005-79-2
genes like me logo Genes that share compounds with AMY1A: view

Transcripts for AMY1A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AMY1A Gene

(2) REFSEQ mRNAs :
(283) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMY1A Gene

No ASD Table

Relevant External Links for AMY1A Gene

GeneLoc Exon Structure for
AMY1A
ECgene alternative splicing isoforms for
AMY1A

Expression for AMY1A Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AMY1A Gene

mRNA expression in normal human tissues for AMY1A Gene
mRNA expression by BioGPS for AMY1A GenemRNA expression by GTEx for AMY1A Gene

mRNA differential expression in normal tissues according to GTEx for AMY1A Gene

This gene is overexpressed in Pancreas (x44.7).

Protein differential expression in normal tissues from HIPED for AMY1A Gene

This gene is overexpressed in Saliva (54.0) and Salivary gland (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AMY1A Gene



Protein tissue co-expression partners for AMY1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMY1A Gene:

AMY1A

Evidence on tissue expression from TISSUES for AMY1A Gene

  • Saliva(4.7)
  • Thyroid gland(4.2)
  • Pancreas(3.6)
  • Adrenal gland(2.5)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with AMY1A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMY1A Gene

Orthologs for AMY1A Gene

This gene was present in the common ancestor of animals.

Orthologs for AMY1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AMY1A 34
  • 99.02 (n)
dog
(Canis familiaris)
 Mammalia -- 35
  • 90 (a)
 ManyToMany
-- 35
  • 90 (a)
 ManyToMany
-- 35
  • 90 (a)
 ManyToMany
-- 35
  • 90 (a)
 ManyToMany
-- 35
  • 88 (a)
 ManyToMany
-- 35
  • 88 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia AMY2B 35
  • 86 (a)
 ManyToMany
-- 35
  • 85 (a)
 ManyToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 86 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Amy1 35
  • 85 (a)
 ManyToMany
Amy2a2 35
  • 84 (a)
 ManyToMany
Amy2a3 35
  • 84 (a)
 ManyToMany
Amy2a4 35
  • 84 (a)
 ManyToMany
Amy2a5 35
  • 84 (a)
 ManyToMany
Amy2a1 35
  • 81 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 84 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves AMY2A 35
  • 83 (a)
 ManyToMany
AMY1A 35
  • 79 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 80 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii amy2a 35
  • 74 (a)
 ManyToMany
zgc:92137 35
  • 69 (a)
 ManyToMany
zgc:66313 35
  • 68 (a)
 ManyToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8384 34
fruit fly
(Drosophila melanogaster)
 Insecta Amy-d 36 35
  • 52 (a)
Amy-p 36 35
  • 52 (a)
Amyrel 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
 Secernentea C50B6.7 36 35
  • 44 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 54 (a)
 OneToMany
Species where no ortholog for AMY1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AMY1A Gene

ENSEMBL:
Gene Tree for AMY1A (if available)
TreeFam:
Gene Tree for AMY1A (if available)

Paralogs for AMY1A Gene

Paralogs for AMY1A Gene

(4) SIMAP similar genes for AMY1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AMY1A: view

Variants for AMY1A Gene

Sequence variations from dbSNP and Humsavar for AMY1A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1003027647 -- 103,660,460(+) CCTCT(A/G)TACTT reference, missense
rs1004874086 -- 103,655,151(+) GGAGC(A/G)TCGGA upstream-variant-2KB
rs1005586971 -- 103,660,642(+) GTCAA(A/G)CTACC reference, missense
rs1016309644 -- 103,655,165(+) CTACT(C/G)TCTCA upstream-variant-2KB
rs1029100176 -- 103,660,919(+) CAGGG(-/AAAATA)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMY1A Gene

Variant ID Type Subtype PubMed ID
dgv13n111 CNV duplication 26073780
dgv151e59 CNV duplication 20981092
dgv1n31 CNV gain 19718026
dgv213n100 CNV gain 25217958
dgv217n100 CNV gain 25217958
dgv218n100 CNV gain 25217958
dgv219n100 CNV loss 25217958
dgv220n100 CNV gain+loss 25217958
dgv221n100 CNV gain+loss 25217958
dgv222n100 CNV gain 25217958
dgv223n100 CNV gain+loss 25217958
dgv224n100 CNV loss 25217958
dgv225n100 CNV gain 25217958
dgv226n100 CNV loss 25217958
dgv227n100 CNV gain+loss 25217958
dgv228n100 CNV loss 25217958
dgv229n100 CNV gain 25217958
dgv2e203 CNV gain+loss 21179565
dgv392n54 CNV gain 21841781
dgv395n54 CNV gain 21841781
dgv397n54 CNV loss 21841781
dgv3n14 CNV loss 18776910
dgv401n54 CNV loss 21841781
dgv404n54 CNV loss 21841781
dgv405n54 CNV loss 21841781
dgv408n54 CNV gain 21841781
dgv412n54 CNV gain+loss 21841781
dgv416n54 CNV loss 21841781
dgv420n54 CNV loss 21841781
dgv424n54 CNV gain 21841781
dgv430n54 CNV gain 21841781
dgv431n54 CNV gain 21841781
dgv433n54 CNV gain 21841781
dgv434n54 CNV loss 21841781
dgv435n54 CNV loss 21841781
dgv436n54 CNV loss 21841781
dgv437n54 CNV gain 21841781
dgv438n54 CNV loss 21841781
dgv442n54 CNV gain 21841781
dgv445n54 CNV loss 21841781
dgv58n67 CNV gain 20364138
dgv68e212 CNV gain 25503493
esv1003868 CNV gain 20482838
esv23292 CNV gain+loss 19812545
esv2715585 CNV deletion 23290073
esv2758954 CNV gain+loss 17122850
esv3325833 CNV duplication 20981092
esv3333467 CNV duplication 20981092
esv3349637 CNV duplication 20981092
esv3362783 CNV duplication 20981092
esv3363699 CNV duplication 20981092
esv3377623 CNV duplication 20981092
esv3440390 CNV duplication 20981092
esv3440685 CNV duplication 20981092
esv3893856 CNV gain+loss 25118596
esv3893867 CNV loss 25118596
nsv1007406 CNV gain 25217958
nsv1008015 CNV gain+loss 25217958
nsv1012949 CNV gain 25217958
nsv10428 CNV gain+loss 18304495
nsv1110133 CNV duplication 24896259
nsv1110134 CNV duplication 24896259
nsv1118436 CNV duplication 24896259
nsv1139485 CNV duplication 24896259
nsv1146460 CNV duplication 26484159
nsv1150659 CNV duplication 26484159
nsv1152675 CNV duplication 26484159
nsv1161046 CNV deletion 26073780
nsv2176 CNV deletion 18451855
nsv428157 CNV gain+loss 18775914
nsv469513 CNV gain 16826518
nsv471346 CNV gain 19718026
nsv471437 CNV gain 19718026
nsv471677 CNV gain+loss 15918152
nsv482059 CNV gain 20164927
nsv483008 CNV gain+loss 15286789
nsv511121 OTHER complex 20534489
nsv517215 CNV gain+loss 19592680
nsv526367 CNV gain 19592680
nsv546976 CNV gain 21841781
nsv547016 CNV gain+loss 21841781
nsv547116 CNV gain+loss 21841781
nsv547147 CNV loss 21841781
nsv547166 CNV loss 21841781
nsv547172 CNV loss 21841781
nsv547173 CNV gain 21841781
nsv547175 CNV loss 21841781
nsv547185 CNV gain+loss 21841781
nsv547197 CNV loss 21841781
nsv547200 CNV gain 21841781
nsv547204 CNV loss 21841781
nsv547205 CNV loss 21841781
nsv7179 OTHER inversion 18451855
nsv830915 CNV gain+loss 17160897
nsv945582 CNV duplication 23825009
nsv946110 CNV duplication 23825009
nsv946112 CNV duplication 23825009
nsv950526 CNV duplication 24416366
nsv950527 CNV duplication 24416366

Variation tolerance for AMY1A Gene

Gene Damage Index Score: 0.21; 4.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMY1A Gene

Human Gene Mutation Database (HGMD)
AMY1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMY1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMY1A Gene

Disorders for AMY1A Gene

MalaCards: The human disease database

(6) MalaCards diseases for AMY1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
avoidant personality disorder
  • anxious personality disorder
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
developmental coordination disorder
  • motor skills disorders
phobic disorder
  • phobic anxiety disorder
obsessive-compulsive personality disorder
  • anankastic personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search AMY1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for AMY1A

Genetic Association Database (GAD)
AMY1A
Human Genome Epidemiology (HuGE) Navigator
AMY1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMY1A
genes like me logo Genes that share disorders with AMY1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMY1A Gene

Publications for AMY1A Gene

  1. Diet and the evolution of human amylase gene copy number variation. (PMID: 17828263) Perry G.H. … Stone A.C. (Nat. Genet. 2007) 3 22 64
  2. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PMID: 16740002) Ramachandran P. … Loo J.A. (J. Proteome Res. 2006) 3 4 64
  3. On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication). (PMID: 16152770) Baltova S.D. (Folia Med (Plovdiv) 2005) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Probing the role of a mobile loop in substrate binding and enzyme activity of human salivary amylase. (PMID: 12527308) Ramasubbu N. … Mishra P.J. (J. Mol. Biol. 2003) 3 4 64

Products for AMY1A Gene

  • Cloud-Clone Corp. Antibodies for AMY1A
  • Cloud-Clone Corp. Proteins for AMY1A
  • Cloud-Clone Corp Assay Kits for AMY1A

Sources for AMY1A Gene

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