Agl amylo-1,6-glucosidase, 4-alpha-glucanotransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aglprovided by MGI
Official Full Name: amylo-1,6-glucosidase, 4-alpha-glucanotransferaseprovided by MGI
Primary source: MGI:MGI:1924809
See related: Ensembl:ENSMUSG00000033400 AllianceGenome:MGI:1924809
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1110061O17Rik; 9430004C13Rik; 9630046L06Rik
Summary: Enables several functions, including 4-alpha-glucanotransferase activity; amylo-alpha-1,6-glucosidase activity; and glycogen debranching enzyme activity. Involved in glycogen catabolic process. Acts upstream of or within glycogen metabolic process. Located in cytoplasm; inclusion body; and nucleus. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; heart; musculature; and sensory organ. Used to study glycogen storage disease III. Human ortholog(s) of this gene implicated in glycogen storage disease III. Orthologous to human AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 13.2), liver E18 (RPKM 6.5) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G1; 3 50.47 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (116533648..116601815, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (116739999..116808166, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AGL has a role in bladder carcinogenesis.
Title: Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126117 (e-PCR)
- UniSTS:162829

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

AI850929 (e-PCR)
- UniSTS:165291

Agl (e-PCR), detects polymorphism
- UniSTS:526031

D3Mit314 (e-PCR), detects polymorphism
- UniSTS:129751

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4-alpha-glucanotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4-alpha-glucanotransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 4-alpha-glucanotransferase activity	ISO Inferred from Sequence Orthology more info
enables amylo-alpha-1,6-glucosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables amylo-alpha-1,6-glucosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables amylo-alpha-1,6-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables glycogen debranching enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables polysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables polysaccharide binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables polyubiquitin modification-dependent protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glycogen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycogen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycogen catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to glucocorticoid	ISO Inferred from Sequence Orthology more info
involved_in response to hormone	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: glycogen debranching enzyme

NP_001074795.1

EC 3.2.1.33

NP_001349296.1

EC 3.2.1.33

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.