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 AMY1B Gene

Aliases for AMY1B Gene

  • Amylase Alpha 1B 2 3 5
  • 1,4-Alpha-D-Glucan Glucanohydrolase 1 3 4
  • Amylase Alpha 1B (Salivary) 2 3
  • Salivary Alpha-Amylase 3 4
  • Alpha-Amylase 1 3 4
  • EC 3.2.1.1 4 51
  • AMY1 3 4
  • Amylase, Alpha 1B; Salivary 2
  • Amylase, Salivary, Alpha-1B 3
  • Salivary Amylase Alpha 1B 3
  • Glycogenase 3
  • AMY1B 5

External Ids for AMY1B Gene

Previous HGNC Symbols for AMY1B Gene

  • AMY1

Previous GeneCards Identifiers for AMY1B Gene

  • GC01U990008
  • GC01M104031
  • GC01M104230

Summaries for AMY1B Gene

Entrez Gene Summary for AMY1B 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for AMY1B Gene

AMY1B (Amylase Alpha 1B) is a Protein Coding gene. Diseases associated with AMY1B include Stereotypic Movement Disorder and Major Depressive Disorder. Among its related pathways are Metabolism and Pancreatic secretion. Gene Ontology (GO) annotations related to this gene include cation binding and alpha-amylase activity. An important paralog of this gene is AMY1A.

Additional gene information for AMY1B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMY1B Gene

Genomics for AMY1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMY1B 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
GH01J103696 Promoter 0.3 EPDnew 600.7 +0.5 450 0.1 AMY1B ENSG00000234441 AMY1A
GH01J103656 Promoter 0.3 EPDnew 0.3 +40.6 40646 0.1 AMY1A ENSG00000234441 AMY1B
GH01J103655 Promoter 0.3 EPDnew 0.3 +40.9 40892 0.1 AMY1A ENSG00000234441 AMY1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMY1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMY1B

Top Transcription factor binding sites by QIAGEN in the AMY1B gene promoter:
  • Brachyury
  • FOXJ2
  • FOXJ2 (long isoform)
  • HTF
  • Nkx2-5
  • RORalpha2
  • RP58

Genomic Locations for AMY1B Gene

Genomic Locations for AMY1B Gene
chr1:103,687,415-103,696,680
(GRCh38/hg38)
Size:
9,266 bases
Orientation:
Minus strand
chr1:104,230,037-104,239,302
(GRCh37/hg19)
Size:
9,266 bases
Orientation:
Minus strand

Genomic View for AMY1B Gene

Genes around AMY1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMY1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMY1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMY1B Gene

Proteins for AMY1B Gene

  • Protein details for AMY1B 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 AMY1B 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 AMY1B Gene

neXtProt entry for AMY1B Gene

Selected DME Specific Peptides for AMY1B 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 AMY1B Gene

  • Glycosylation at Asn427 and Asn476
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • AMY1_HUMAN (28)

Other Protein References for AMY1B Gene

Domains & Families for AMY1B Gene

Gene Families for AMY1B Gene

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

Protein Domains for AMY1B Gene

InterPro:
Blocks:
  • Alpha-amylase signature
  • Alpha amylase, C-terminal all-beta domain
  • Alpha amylase, catalytic subdomain
ProtoNet:

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 AMY1B: view

No data available for Suggested Antigen Peptide Sequences for AMY1B Gene

Function for AMY1B Gene

Molecular function for AMY1B Gene

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-1B,salivary,see AMY@

Enzyme Numbers (IUBMB) for AMY1B Gene

Gene Ontology (GO) - Molecular Function for AMY1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
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 --
genes like me logo Genes that share ontologies with AMY1B: view
genes like me logo Genes that share phenotypes with AMY1B: view

Animal Model Products

CRISPR Products

miRNA for AMY1B Gene

miRTarBase miRNAs that target AMY1B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY1B

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMY1B Gene

Localization for AMY1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMY1B 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 AMY1B gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMY1B Gene

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
genes like me logo Genes that share ontologies with AMY1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMY1B Gene

Pathways & Interactions for AMY1B Gene

genes like me logo Genes that share pathways with AMY1B: view

Gene Ontology (GO) - Biological Process for AMY1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with AMY1B: view

No data available for SIGNOR curated interactions for AMY1B Gene

Drugs & Compounds for AMY1B Gene

No Compound Related Data Available

Transcripts for AMY1B Gene

mRNA/cDNA for AMY1B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY1B

Alternative Splicing Database (ASD) splice patterns (SP) for AMY1B Gene

No ASD Table

Relevant External Links for AMY1B Gene

GeneLoc Exon Structure for
AMY1B

Expression for AMY1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMY1B Gene

mRNA differential expression in normal tissues according to GTEx for AMY1B Gene

This gene is overexpressed in Pancreas (x27.1).

Protein differential expression in normal tissues from HIPED for AMY1B 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 AMY1B Gene



Protein tissue co-expression partners for AMY1B Gene

- Elite partner

Evidence on tissue expression from TISSUES for AMY1B Gene

  • Saliva(4.7)
  • Thyroid gland(4.2)
  • Adrenal gland(3.1)
  • Nervous system(2.8)
  • Pancreas(2.6)
  • Heart(2.3)
  • Blood(2.2)
  • Skin(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with AMY1B: 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 AMY1B Gene

Orthologs for AMY1B Gene

This gene was present in the common ancestor of animals.

Orthologs for AMY1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AMY1A 30
  • 99.02 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 90 (a)
ManyToMany
-- 31
  • 90 (a)
ManyToMany
-- 31
  • 90 (a)
ManyToMany
-- 31
  • 90 (a)
ManyToMany
-- 31
  • 88 (a)
ManyToMany
-- 31
  • 88 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia AMY2B 31
  • 86 (a)
ManyToMany
-- 31
  • 85 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Amy1 31
  • 85 (a)
ManyToMany
Amy2a4 31
  • 84 (a)
ManyToMany
Amy2a5 31
  • 84 (a)
ManyToMany
Amy2a2 31
  • 84 (a)
ManyToMany
Amy2a3 31
  • 84 (a)
ManyToMany
Amy2a1 31
  • 81 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
Chicken
(Gallus gallus)
Aves AMY2A 31
  • 83 (a)
ManyToMany
AMY1A 31
  • 79 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 80 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii amy2a 31
  • 74 (a)
ManyToMany
zgc:92137 31
  • 69 (a)
ManyToMany
zgc:66313 31
  • 68 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Amy-p 31
  • 55 (a)
ManyToMany
Amy-d 31
  • 55 (a)
ManyToMany
Amyrel 31
  • 49 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C50B6.7 31
  • 33 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for AMY1B 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 AMY1B Gene

ENSEMBL:
Gene Tree for AMY1B (if available)
TreeFam:
Gene Tree for AMY1B (if available)

Paralogs for AMY1B Gene

Paralogs for AMY1B Gene

(4) SIMAP similar genes for AMY1B Gene using alignment to 2 proteins:

  • AMY1_HUMAN
  • Q5T085_HUMAN
genes like me logo Genes that share paralogs with AMY1B: view

Variants for AMY1B Gene

Additional dbSNP identifiers (rs#s) for AMY1B Gene

Structural Variations from Database of Genomic Variants (DGV) for AMY1B 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 AMY1B Gene

Gene Damage Index Score: 0.59; 12.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMY1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMY1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMY1B Gene

Disorders for AMY1B Gene

MalaCards: The human disease database

(5) MalaCards diseases for AMY1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
stereotypic movement disorder
  • stereotyped repetitive movements
major depressive disorder
  • mdd
sick building syndrome
bruxism
  • bruxism - teeth grinding
phobic disorder
  • phobic disorders
- elite association - COSMIC cancer census association via MalaCards
Search AMY1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMY1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AMY1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMY1B Gene

Publications for AMY1B Gene

  1. 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 41
  2. Concerted evolution of human amylase genes. (PMID: 2452973) Gumucio DL … Meisler MH (Molecular and cellular biology 1988) 3 4
  3. Primary structure of human salivary alpha-amylase gene. (PMID: 2423416) Nishide T … Matsubara K (Gene 1986) 3 4
  4. 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. (PMID: 30982860) Valsesia A … O'Callaghan NJ (The American journal of clinical nutrition 2019) 3
  5. Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity. (PMID: 28219410) Carpenter D … Armour JA (Human genomics 2017) 3

Products for AMY1B Gene

Sources for AMY1B Gene