AMY1A Gene (Protein Coding)

Amylase Alpha 1A

GC01P103651
GIFtS:
35
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 saliva... See more...

Aliases for AMY1A Gene

Aliases for AMY1A Gene

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

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) is a Protein Coding gene. Diseases associated with AMY1A include Stereotypic Movement Disorder and Major Depressive Disorder. Among its related pathways are Salivary secretion and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include cation binding and alpha-amylase activity. An important paralog of this gene is AMY1B.

UniProtKB/Swiss-Prot Summary for AMY1A Gene

  • Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308).

Gene Wiki entry for AMY1A Gene

Additional gene information for AMY1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMY1A Gene

Genomics for AMY1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AMY1A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J103656 Promoter 0.3 EPDnew 250.7 +0.7 744 0.1 AMY1A HSALNG0005643-001 HSALNG0005646-001 HSALNG0005642-001 AMY1B HSALNG0005641
GH01J103655 Promoter 0.3 EPDnew 250.7 +0.5 498 0.1 AMY1A HSALNG0005643-001 HSALNG0005642-001 AMY1B HSALNG0005641
GH01J103696 Promoter 0.3 EPDnew 0.3 +40.9 40940 0.1 AMY1B HSALNG0005646-003 HSALNG0005644 HSALNG0005646-001 AMY1A HSALNG0005643-002 HSALNG0005641 HSALNG0005646-002
GH01J103616 Promoter 0.3 EPDnew 0.3 -38.4 -38444 0.1 AMY2A HSALNG0005642-001 AMY1A
GH01J103617 Promoter 0.3 EPDnew 0.3 -37.9 -37882 0.1 AMY2A HSALNG0005642-001 AMY1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMY1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMY1A

Top Transcription factor binding sites by QIAGEN in the AMY1A gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-5
  • Pbx1a
  • Sox5
  • Sox9

Genomic Locations for AMY1A Gene

Latest Assembly
chr1:103,655,290-103,664,554
(GRCh38/hg38)
Size:
9,265 bases
Orientation:
Plus strand

Previous Assembly
chr1:104,198,141-104,207,176
(GRCh37/hg19 by Entrez Gene)
Size:
9,036 bases
Orientation:
Plus strand

chr1:104,197,912-104,207,173
(GRCh37/hg19 by Ensembl)
Size:
9,262 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

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  3. Assay products for research

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

    Protein Symbol:
    P0DUB6-AMY1A_HUMAN
    Recommended name:
    Alpha-amylase 1A
    Protein Accession:
    P0DUB6
    Secondary Accessions:
    • A6NJS5
    • A8K8H6
    • P04745
    • 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.

    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

Post-translational modifications for AMY1A Gene

  • Glycosylation at Asn427 and Asn476

Other Protein References for AMY1A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMY1A Gene

Domains & Families for AMY1A Gene

Gene Families for AMY1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for AMY1A Gene

InterPro:

Suggested Antigen Peptide Sequences for AMY1A Gene

GenScript: Design optimal peptide antigens:
  • Amylase, alpha 1A (Salivary) (B7ZMD7_HUMAN)
  • AMY1A protein (Q6NSB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DUB6

UniProtKB/Swiss-Prot:

AMY1A_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

Function for AMY1A Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for AMY1A Gene

UniProtKB/Swiss-Prot Function:
Calcium-binding enzyme that initiates starch digestion in the oral cavity (PubMed:12527308). Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units.; EC=3.2.1.1; Evidence={ECO:0000269|PubMed:12527308};.
GENATLAS Biochemistry:
amylase,alpha-1A,salivary,see AMY@

Enzyme Numbers (IUBMB) for AMY1A Gene

Phenotypes From GWAS Catalog for AMY1A Gene

Gene Ontology (GO) - Molecular Function for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004556 alpha-amylase activity IEA,IDA 12527308
GO:0005509 calcium ion binding IDA 12527308
GO:0031404 chloride ion binding IDA 12527308
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY1A

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
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA, HDA 15299664
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with AMY1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMY1A Gene

Pathways & Interactions for AMY1A Gene

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

Interacting Proteins for AMY1A Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000359100 for AMY1A Gene via STRING

GPS-Prot Interaction Network for AMY1A

Gene Ontology (GO) - Biological Process for AMY1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0009311 oligosaccharide metabolic process IDA 12527308
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target 0
Semaglutide Approved, Investigational Pharma Enzyme, inhibitor 0
Pidolic acid Approved, Investigational Pharma 0
Water Approved Pharma 0
4,6-dideoxy-4-amino-alpha-D-glucose Experimental Pharma Target 0

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

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

Transcripts for AMY1A Gene

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mRNA/cDNA for AMY1A Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY1A

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

No ASD Table

Relevant External Links for AMY1A Gene

GeneLoc Exon Structure for
AMY1A

Expression for AMY1A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for AMY1A Gene



Protein tissue co-expression partners for AMY1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMY1A

Evidence on tissue expression from TISSUES for AMY1A Gene

  • Pancreas(3.8)
  • Saliva(3.1)
  • Adrenal gland(2.8)
  • Nervous system(2.6)
  • Blood(2.4)
  • Heart(2.1)
  • Skin(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with AMY1A: view

Primer products for research

No data available for 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 29
  • 99.02 (n)
Dog
(Canis familiaris)
 Mammalia -- 30
  • 90 (a)
 ManyToMany
-- 30
  • 90 (a)
 ManyToMany
-- 30
  • 90 (a)
 ManyToMany
-- 30
  • 90 (a)
 ManyToMany
-- 30
  • 88 (a)
 ManyToMany
-- 30
  • 88 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia AMY2B 30
  • 86 (a)
 ManyToMany
-- 30
  • 85 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 86 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Amy1 30
  • 85 (a)
 ManyToMany
Amy2a2 30
  • 84 (a)
 ManyToMany
Amy2a4 30
  • 84 (a)
 ManyToMany
Amy2a3 30
  • 84 (a)
 ManyToMany
Amy2a5 30
  • 84 (a)
 ManyToMany
Amy2a1 30
  • 81 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 84 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves AMY2A 30
  • 83 (a)
 ManyToMany
AMY1A 30
  • 79 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 80 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii amy2a 30
  • 74 (a)
 ManyToMany
zgc:92137 30
  • 69 (a)
 ManyToMany
zgc:66313 30
  • 68 (a)
 ManyToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8384 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Amy-d 30 31
  • 55 (a)
 ManyToMany
Amy-p 30 31
  • 55 (a)
 ManyToMany
Amyrel 30 31
  • 49 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea C50B6.7 30 31
  • 33 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 54 (a)
 OneToMany
Species where no ortholog for AMY1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMY1A: view image
Alliance of Genome Resources:
Additional Orthologs for AMY1A

Paralogs for AMY1A Gene

Paralogs for AMY1A Gene

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

  • AMY1_HUMAN
  • B7ZMD7_HUMAN
  • Q5T084_HUMAN
  • Q6NSB3_HUMAN
genes like me logo Genes that share paralogs with AMY1A: view

Variants for AMY1A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMY1A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs138704923 Benign: not provided 103,660,444(+) C/T
NM_004038.3(AMY1A):c.963C>T (p.Gly321=) 		SYNONYMOUS
rs201288184 Likely Benign: not provided 103,660,401(+) C/T
NM_004038.3(AMY1A):c.920C>T (p.Ala307Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AMY1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for AMY1A Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for AMY1A Gene

MalaCards: The human disease database

(11) MalaCards diseases for AMY1A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
stereotypic movement disorder
  • stereotyped repetitive movements
major depressive disorder
  • mdd
dental anomalies and short stature
  • dass
avoidant personality disorder
  • anxious personality disorder
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search AMY1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMY1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 GH … Stone AC (Nature genetics 2007) 3 22
  2. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PMID: 16740002) Ramachandran P … Loo JA (Journal of proteome research 2006) 3 4
  3. On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication). (PMID: 16152770) Baltova SD (Folia medica 2005) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Probing the role of a mobile loop in substrate binding and enzyme activity of human salivary amylase. (PMID: 12527308) Ramasubbu N … Mishra PJ (Journal of molecular biology 2003) 3 4

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