Aliases for AMY1A Gene
Aliases for AMY1A Gene
External Ids for AMY1A Gene
- HGNC: 474
- Entrez Gene: 276
- Ensembl: ENSG00000237763
- OMIM: 104700
- UniProtKB: P04745
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
-
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 Obsessive-Compulsive Personality Disorder. Among its related pathways are Metabolism and Digestion of dietary carbohydrate. Gene Ontology (GO) annotations related to this gene include cation binding and alpha-amylase activity. An important paralog of this gene is AMY1C.
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
GeneHancer (GH) Regulatory Elements for AMY1A Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01J103655 | Promoter | 0.5 | EPDnew | 650.7 | +0.5 | 498 | 0.1 | AMY1A ENSG00000234441 | ||
| GH01J103656 | Promoter | 0.5 | EPDnew | 650.7 | +0.7 | 744 | 0.1 | AMY1A ENSG00000234441 | ||
| GH01J103617 | Promoter | 0.5 | EPDnew | 0.3 | -37.9 | -37882 | 0.1 | AMY2A AMY1A | ||
| GH01J103616 | Promoter | 0.5 | EPDnew | 0.3 | -38.4 | -38444 | 0.1 | AMY2A 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AMY1A gene promoter:
-
- Nkx2-5
- Sox9
- Pbx1a
- Sox5
- FOXJ2
- FOXJ2 (long isoform)
Regulatory Element Products
Genomic Locations for AMY1A Gene
Genomic Locations for AMY1A Gene
- chr1:103,655,290-103,664,554
- (GRCh38/hg38)
- Size:
- 9,265 bases
- Orientation:
- Plus strand
- chr1:104,197,912-104,207,173
- (GRCh37/hg19)
- 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:
-
- 1p21.1 by Entrez Gene
- 1p21.1 by HGNC
- 1p21.1 by Ensembl
AMY1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AMY1A Gene
Proteins for AMY1A Gene
-
Protein details for AMY1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P04745-AMY1_HUMAN
- Recommended name:
- Alpha-amylase 1
- Protein Accession:
- P04745
- A6NJS5
- A8K8H6
- Q13763
- Q5T083
- A6NJS5
- A8K8H6
- Q13763
- Q5T083
- 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;
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Cofactor:
- Name=chloride; Xref=ChEBI:CHEBI:17996;
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Cofactor:
- Name=chloride; Xref=ChEBI:CHEBI:17996;
- Quaternary structure:
-
- Monomer.
- Monomer.
- Monomer.
Protein Expression for AMY1A Gene
Post-translational modifications for AMY1A Gene
Other Protein References for AMY1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AMY1A
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-
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Protein Products
-
OriGene Purified Proteins for AMY1A
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- antibodies-online: Search results for 1 available AMY1A Proteins ranked by validation data
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-
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Assay Products
- Novus Biologicals ELISA Kits for AMY1A
No data available for DME Specific Peptides for AMY1A Gene
Domains & Families for AMY1A Gene
Gene Families for AMY1A Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted secreted proteins
Protein Domains for AMY1A Gene
Suggested Antigen Peptide Sequences for AMY1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P04745- Family:
-
- Belongs to the glycosyl hydrolase 13 family.
Function for AMY1A Gene
Molecular function for AMY1A Gene
- 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.
- GENATLAS Biochemistry:
- amylase,alpha-1A,salivary,see AMY@
Enzyme Numbers (IUBMB) for AMY1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004556 | alpha-amylase activity | IEA | -- |
| 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 | -- |
Phenotypes for AMY1A Gene
- GenomeRNAi human phenotypes for AMY1A:
Animal Model Products
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-
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Clone Products
- Sino Biological Human cDNA Clone for AMY1A
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AMY1A
No data available for Phenotypes From GWAS Catalog , 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
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IDA | 24248522 |
| GO:0070062 | extracellular exosome | HDA | 19199708 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMY1A Gene
Pathways & Interactions for AMY1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Carbohydrate digestion and absorption | ||
| 3 | Salivary secretion | ||
| 4 | Galactose metabolism | ||
| 5 | Digestion of dietary carbohydrate | ||
Pathways by source for AMY1A Gene
3 Reactome pathways for AMY1A Gene
4 KEGG pathways for AMY1A Gene
Interacting Proteins for AMY1A Gene
GPS-Prot Interaction Network for AMY1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for AMY1A Gene
Drugs & Compounds for AMY1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Pidolic Acid | Approved, Investigational | Pharma | Target | 0 | ||
| Semaglutide | Approved, Investigational | Pharma | Enzyme, inhibitor | 0 | ||
| Water | Approved | Pharma | 0 | |||
| calcium | Approved | Nutra | 0 | |||
| 4,6-dideoxy-4-amino-alpha-D-glucose | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Alpha-D-Glucose |
|
492-62-6 |
|
|||
| Chloride ion |
|
16887-00-6 |
|
|||
| Dextrin |
|
9004-53-9 |
|
|||
| Glycogen |
|
9005-79-2 |
|
Drug Products
Transcripts for AMY1A Gene
mRNA/cDNA for AMY1A Gene
- (2) REFSEQ mRNAs :
- (234) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000430659 1363 bps (uc057itj.1)
- ENST00000370083 1790 bps (uc001duv.4)
- ENST00000422549 403 bps (uc057itk.1)
- ENST00000461518 747 bps (uc057itl.1)
- ENST00000494409 522 bps (uc057itm.1)
CRISPR Products
-
OriGene CRISPR knockouts for AMY1A
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- genomics-online: gRNA clones - Search results for available AMY1A gene related products
- Applied Biological Materials CRISPR for AMY1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMY1A
- GenScript: Design CRISPR guide RNA sequences for AMY1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AMY1A
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Clone Products
- Sino Biological Human cDNA Clone for AMY1A
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- genomics-online: cdna clones - Search results for available AMY1A gene related products
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- Applied Biological Materials Clones for AMY1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for AMY1A Gene
mRNA differential expression in normal tissues according to GTEx for AMY1A Gene
This gene is overexpressed in Pancreas (x44.7).
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
NURSA nuclear receptor signaling pathways regulating expression of AMY1A Gene:
AMY1AEvidence on tissue expression from TISSUES for AMY1A Gene
- Saliva(4.7)
- Thyroid gland(4.2)
- Pancreas(3.6)
- Adrenal gland(2.6)
- Nervous system(2.3)
Primer Products
-
OriGene qPCR primer pairs for AMY1A
-
OriGene qPCR primer pairs and template standards for AMY1A
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Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AMY1A 33 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| cow (Bos Taurus) |
Mammalia | AMY2B 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Amy1 34 |
|
ManyToMany | |
| Amy2a2 34 |
|
ManyToMany | |||
| Amy2a4 34 |
|
ManyToMany | |||
| Amy2a3 34 |
|
ManyToMany | |||
| Amy2a5 34 |
|
ManyToMany | |||
| Amy2a1 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | AMY2A 34 |
|
ManyToMany | |
| AMY1A 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | amy2a 34 |
|
ManyToMany | |
| zgc:92137 34 |
|
ManyToMany | |||
| zgc:66313 34 |
|
ManyToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8384 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Amy-d 34 35 |
|
ManyToMany | |
| Amy-p 34 35 |
|
ManyToMany | |||
| Amyrel 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | C50B6.7 34 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for AMY1A: view image
Paralogs for AMY1A Gene
Variants for AMY1A Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1003027647 | -- | 103,660,460(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1004874086 | -- | 103,655,151(+) | A/G | upstream_transcript_variant | |
| rs1005586971 | -- | 103,660,642(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1016309644 | -- | 103,655,165(+) | G/C | upstream_transcript_variant | |
| rs1029100176 | -- | 103,660,919(+) | AAAATAAAAATAAAAAT/AAAATAAAAAT | intron_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMY1A Gene
Disorders for AMY1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| avoidant personality disorder |
|
|
| obsessive-compulsive personality disorder |
|
|
| chromophobe renal cell carcinoma |
|
|
| retinitis pigmentosa 18 |
|
|
Search AMY1A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AMY1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for AMY1A Gene
Publications for AMY1A Gene
- Diet and the evolution of human amylase gene copy number variation. (PMID: 17828263) Perry GH … Stone AC (Nature genetics 2007) 3 22 58
- 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 58
- 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 44 58
- 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 58
- 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 58
Products for AMY1A Gene
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Sources for AMY1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
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