AMY1B amylase alpha 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMY1Bprovided by HGNC
Official Full Name: amylase alpha 1Bprovided by HGNC
Primary source: HGNC:HGNC:475
See related: Ensembl:ENSG00000174876 MIM:104701; AllianceGenome:HGNC:475
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 4863.3) See more
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Genomic context

Location:: 1p21.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (103687415..103696453, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (103536281..103545319, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (104230037..104239075, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
AMY1 copy number was significantly correlated with the variation observed in salivary amylase production and enzyme activity but did not explain the majority of observed variation between individuals. AMY1-odd and AMY1-even haplotypes showed a different relationship between copy number and expression levels, but the difference was not statistically significant.
Title: Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.
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.
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.
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.
Observational study of genotype prevalence. (HuGE Navigator)
Title: On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32938 (e-PCR)
- UniSTS:50958

NoName (e-PCR)
- UniSTS:480693

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 more info	PubMed
located_in extracellular space	HDA more info	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 1B

Names: 1,4-alpha-D-glucan glucanohydrolase 1; alpha-amylase 1; alpha-amylase 1A; amylase alpha 1B (salivary); amylase, salivary, alpha-1B; glycogenase; salivary alpha-amylase; salivary amylase alpha 1B

NP_001008219.1

EC 3.2.1.1

NP_001373854.1

EC 3.2.1.1

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)

NM_001008218.2 → NP_001008219.1 alpha-amylase 1B precursor

See identical proteins and their annotated locations for NP_001008219.1

Status: REVIEWED

Source sequence(s)

AL513482

Consensus CDS

CCDS30783.1

UniProtKB/Swiss-Prot

A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083

UniProtKB/TrEMBL

B7ZMD7

Related

ENSP00000330484.5, ENST00000330330.10

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
NM_001386925.1 → NP_001373854.1 alpha-amylase 1B precursor

Status: REVIEWED

Source sequence(s)

AL513482

Consensus CDS

CCDS30783.1

UniProtKB/Swiss-Prot

A6NJS5, A8K8H6, P04745, P0DTE7, P0DTE8, P0DUB6, Q13763, Q5T083

UniProtKB/TrEMBL

B7ZMD7

Related

ENSP00000359097.3, ENST00000370080.7

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