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This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinica... See more...
Aliases for AGL Gene
Aliases for AGL Gene
- Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3 5
- Glycogen Debranching Enzyme 2 3 4
- Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
- Glycogen Debrancher 3 4
- GDE 3 4
- Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferaseprovided 3
- Glycogen Storage Disease Type III 2
- Glycogen Debranching Protein 3
- AGL 5
External Ids for AGL Gene
- HGNC: 321
- Entrez Gene: 178
- Ensembl: ENSG00000162688
- OMIM: 610860
- UniProtKB: P35573
Previous GeneCards Identifiers for AGL Gene
- GC01P101113
- GC01P099441
- GC01P099606
- GC01P099778
- GC01P100027
- GC01P100088
- GC01P100315
- GC01P098438
Summaries for AGL Gene
-
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for AGL Gene
AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include Glycogen Storage Disease Iii and Glycogen Storage Disease. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polysaccharide binding.
UniProtKB/Swiss-Prot Summary for AGL Gene
-
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
-
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.
Additional gene information for AGL Gene
- HGNC(321)
- Entrez Gene(178)
- Ensembl(ENSG00000162688)
- OMIM(610860)
- UniProtKB(P35573)
- Open Targets Platform(ENSG00000162688)
- Monarch Initiative
- Search for AGL at DataMed
- Search for AGL at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGL Gene
Genomics for AGL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AGL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AGL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGL
- Top Transcription factor binding sites by QIAGEN in the AGL gene promoter:
-
- STAT3
Genomic Locations for AGL Gene
Genomic Locations for AGL Gene
- chr1:99,850,077-99,924,023
- (GRCh38/hg38)
- Size:
- 73,947 bases
- Orientation:
- Plus strand
- chr1:100,315,640-100,389,579
- (GRCh37/hg19)
- Size:
- 73,940 bases
- Orientation:
- Plus strand
Genomic View for AGL Gene
Genes around AGL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p21.2 by HGNC
- 1p21.2 by Entrez Gene
- 1p21.2 by Ensembl
AGL 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 AGL Gene
Proteins for AGL Gene
-
Protein details for AGL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35573-GDE_HUMAN
- Recommended name:
- Glycogen debranching enzyme
- Protein Accession:
- P35573
- A6NCX7
- A6NEK2
- D3DT51
- P78354
- P78544
- Q59H92
- Q6AZ90
- Q9UF08
Protein attributes for AGL Gene
- Size:
- 1532 amino acids
- Molecular mass:
- 174764 Da
- Quaternary structure:
-
- Monomer. Interacts with NHLRC1/malin.
- SequenceCaution:
-
- Sequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 1]: The products of the mRNAs termed isoforms 1 to 4 are identical.
Protein Expression for AGL Gene
Post-translational modifications for AGL Gene
- The N-terminus is blocked.
- Ubiquitinated.
-
Ubiquitination at Lys679 and Lys875
- NX_P35573 (NX_P35573-1)
- Modification sites at PhosphoSitePlus
Other Protein References for AGL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-AGL monoclonal antibody
- Creative Biolabs Recombinant Anti-Human AGL Antibody
-
Custom Antibody ServicesOriGene Antibodies for AGL
- Novus Biologicals Antibodies for AGL
-
Abcam antibodies for AGL
- Invitrogen Antibodies for AGL (AFLGC-AGL)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AGL
- Origene Custom Protein Services for AGL
- antibodies-online: Show 6 available AGL Proteins ranked by validation data
- Compare Top AGL Proteins
-
Signalway Proteins for AGL
Assay Products
- G Biosciences Immunotag™ Glycogen debranching enzyme ELISA Kit
- antibodies-online: Show 4 available AGL Elisa Kits ranked by validation data
- Compare Top AGL Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for AGL
No data available for DME Specific Peptides for AGL Gene
Domains & Families for AGL Gene
Gene Families for AGL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for AGL Gene
Suggested Antigen Peptide Sequences for AGL Gene
- GenScript: Design optimal peptide antigens:
-
- Glycogen debrancher (GDE_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35573- Family:
-
- Belongs to the glycogen debranching enzyme family.
Function for AGL Gene
Molecular function for AGL Gene
- UniProtKB/Swiss-Prot Function:
- Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.; EC=2.4.1.25;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.; EC=3.2.1.33;.
- GENATLAS Biochemistry:
- amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle specific and four further minor alternatively spliced isoforms
Phenotypes From GWAS Catalog for AGL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004133 | glycogen debranching enzyme activity | TAS | 1374391 |
| GO:0004134 | 4-alpha-glucanotransferase activity | EXP,IBA | 21873635 |
| GO:0004135 | amylo-alpha-1,6-glucosidase activity | EXP,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 17908927 |
Phenotypes for AGL Gene
- MGI mutant phenotypes for AGL:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for AGL:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability ratio
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
Animal Models for AGL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AGL - Select products 50% OFF >
- * AGL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AGL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGL
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGL
miRNA for AGL Gene
- miRTarBase miRNAs that target AGL
-
- hsa-miR-155-5p (MIRT020541)
- hsa-miR-215-5p (MIRT024894)
- hsa-miR-192-5p (MIRT026198)
- hsa-miR-26b-5p (MIRT028934)
- hsa-let-7b-5p (MIRT032209)
- hsa-miR-455-3p (MIRT037850)
- hsa-miR-484 (MIRT041710)
- hsa-miR-191-5p (MIRT045794)
- hsa-miR-374a-5p (MIRT441248)
- mmu-miR-5101 (MIRT584925)
- mmu-miR-129-5p (MIRT584926)
- mmu-miR-709 (MIRT588091)
- mmu-miR-1903 (MIRT596439)
- mmu-miR-3062-5p (MIRT599815)
- mmu-miR-1935 (MIRT599816)
- mmu-miR-298-5p (MIRT599817)
- mmu-miR-876-5p (MIRT599818)
- mmu-miR-1199-5p (MIRT599819)
- mmu-miR-1224-5p (MIRT599820)
- mmu-miR-706 (MIRT602833)
- mmu-miR-10a-5p (MIRT602834)
- mmu-miR-10b-5p (MIRT602835)
- mmu-miR-339-5p (MIRT602836)
- mmu-miR-3072-3p (MIRT604401)
- mmu-miR-3082-5p (MIRT606546)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AGL
- Browse OriGene Inhibitory RNA Products For AGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGL
Clone Products
- Applied Biological Materials (abm): Clones for AGL - Select products 50% OFF >
- * AGL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG224581
- MR224581
- MR224581L3
- MR224581L4
- RC210005
- RC210005L3
- RC210005L4
- RC214961
- RC214961L3
- RC214961L4
- RC215018
- RC215018L3
- RC215018L4
- RC215070
- RC215070L3
- RC215070L4
- RC215495
- RC215495L1
- RC215495L2
- RC215495L3
- RC215495L4
- RC215785
- RC215785L3
- RC215785L4
- RG210005
- RG214961
- RG215018
- RG215070
- RG215495
- RG215785
- RR209001
- MR224581L3V
- MR224581L4V
- RC210005L3V
- RC210005L4V
- RC214961L3V
- RC214961L4V
- RC215018L3V
- RC215018L4V
- RC215070L3V
- RC215070L4V
- RC215495L1V
- RC215495L2V
- RC215495L3V
- RC215495L4V
- RC215785L3V
- RC215785L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AGL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGL
Cell Line Products
-
Horizon Cell Lines for AGL
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGL Gene
Localization for AGL Gene
Subcellular locations from UniProtKB/Swiss-Prot for AGL Gene
- Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 4 |
| endoplasmic reticulum | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 17908927 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016234 | inclusion body | IEA | -- |
Pathways & Interactions for AGL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Galactose metabolism |
Glycogen metabolism
.01
|
|
| 4 | Glucose metabolism | ||
| 5 | Glycosaminoglycan metabolism | ||
Pathways by source for AGL Gene
1 BioSystems pathway for AGL Gene
7 Reactome pathways for AGL Gene
2 KEGG pathways for AGL Gene
1 GeneGo (Thomson Reuters) pathway for AGL Gene
- Glycogen metabolism
Interacting Proteins for AGL Gene
GPS-Prot Interaction Network for AGL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005977 | glycogen metabolic process | IEA | -- |
| GO:0005978 | glycogen biosynthetic process | IEA | -- |
| GO:0005980 | glycogen catabolic process | TAS | -- |
| GO:0007584 | response to nutrient | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for AGL Gene
Drugs & Compounds for AGL Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| D-glucose | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| Acarbose | Approved, Investigational | Pharma | Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) | 99 | ||
| maltose | Experimental, Investigational | Pharma | 0 | |||
| Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Glycogen |
|
9005-79-2 | ||||
| Alpha-D-Glucose |
|
492-62-6 |
|
|||
| Dextrin |
|
9004-53-9 |
|
|||
| Miglustat hydrochloride |
|
210110-90-0 |
|
|
(5) Tocris Compounds for AGL Gene
| Compound | Action | Cas Number |
|---|---|---|
| 1-Deoxymannojirimycin hydrochloride | alpha-Mannosidase I inhibitor | 73465-43-7 |
| 1-Deoxynojirimycin | Glucosidase I and II inhibitor | 19130-96-2 |
| Acarbose | Glucosidase alpha inhibitor (intestinal) | 56180-94-0 |
| Castanospermine | Glucosidases alpha and beta inhibitor | 79831-76-8 |
| Miglustat hydrochloride | alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases | 210110-90-0 |
Transcripts for AGL Gene
mRNA/cDNA for AGL Gene
- 6 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361915 7091 nts (view in UCSC)
- ENST00000370165 7106 nts (view in UCSC)
- ENST00000370163 7166 nts (view in UCSC)
- ENST00000294724 7446 nts (view in UCSC)
- ENST00000361302 7179 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AGL - Select products 50% OFF >
- * AGL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AGL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGL
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AGL
- Browse OriGene Inhibitory RNA Products For AGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGL
Clone Products
- Applied Biological Materials (abm): Clones for AGL - Select products 50% OFF >
- * AGL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG224581
- MR224581
- MR224581L3
- MR224581L4
- RC210005
- RC210005L3
- RC210005L4
- RC214961
- RC214961L3
- RC214961L4
- RC215018
- RC215018L3
- RC215018L4
- RC215070
- RC215070L3
- RC215070L4
- RC215495
- RC215495L1
- RC215495L2
- RC215495L3
- RC215495L4
- RC215785
- RC215785L3
- RC215785L4
- RG210005
- RG214961
- RG215018
- RG215070
- RG215495
- RG215785
- RR209001
- MR224581L3V
- MR224581L4V
- RC210005L3V
- RC210005L4V
- RC214961L3V
- RC214961L4V
- RC215018L3V
- RC215018L4V
- RC215070L3V
- RC215070L4V
- RC215495L1V
- RC215495L2V
- RC215495L3V
- RC215495L4V
- RC215785L3V
- RC215785L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AGL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGL
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 20 | ^ | 21 | ^ | 22 |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: | |||||
| SP8: |
Relevant External Links for AGL Gene
- GeneLoc Exon Structure for
- AGL
Expression for AGL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for AGL Gene
This gene is overexpressed in Muscle - Skeletal (x10.5).
This gene is overexpressed in Retina (28.0) and Liver, secretome (12.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGL Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGL
SOURCE GeneReport for Unigene cluster for AGL Gene:
Hs.904mRNA Expression by UniProt/SwissProt for AGL Gene:
P35573-GDE_HUMAN
Tissue specificity:
Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
Evidence on tissue expression from TISSUES for AGL Gene
- Liver(4.9)
- Muscle(4.7)
- Nervous system(4.6)
- Eye(4.4)
- Heart(4.2)
- Blood(2.6)
- Intestine(2.6)
- Skin(2.5)
- Adrenal gland(2.4)
- Kidney(2.2)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AGL Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- ear
- eye
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- skull
Thorax:
- heart
- heart valve
Abdomen:
- adrenal gland
- duodenum
- intestine
- liver
- pancreas
- small intestine
Limb:
- hand
- lower limb
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for AGL
-
OriGene qPCR primer pairs and template standards for AGL
Gene Expression Assay Products
Orthologs for AGL Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AGL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AGL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AGL 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AGL 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Agl 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Agl 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AGL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AGL 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AGL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agl 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22218 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | aglb 31 |
|
OneToMany | |
| agla 30 31 |
|
OneToMany | |||
| CABZ01041804.1 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5559 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG9485 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001200 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | agl-1 30 31 |
|
OneToOne | |
| R06A4.8 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDB1 30 31 33 33 33 33 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL276C 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00743 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4153 30 |
|
- Species where no ortholog for AGL was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- 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)
- 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)
- Wheat (Triticum aestivum)
Evolution for AGL Gene
- ENSEMBL:
- Gene Tree for AGL (if available)
- TreeFam:
- Gene Tree for AGL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AGL: view image
Paralogs for AGL Gene
No data available for Paralogs for AGL Gene
Variants for AGL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGL Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 635289 | Uncertain Significance: Glycogen storage disease IIIa | 99,870,755(+) | C/A | INTRON_VARIANT | |
| 635290 | Pathogenic: Glycogen storage disease IIIa | 99,891,604(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
| 635291 | Pathogenic: Glycogen storage disease IIIa | 99,912,404(+) | G/A | SPLICE_ACCEPTOR_VARIANT | |
| 635292 | Pathogenic: Glycogen storage disease IIIa | 99,875,152(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
| 635318 | Uncertain Significance: Glycogen storage disease IIIa | 99,881,403(+) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2655277 | CNV | deletion | 19546169 |
| esv2758952 | CNV | loss | 17122850 |
| esv3304048 | CNV | mobile element insertion | 20981092 |
| esv3357668 | CNV | insertion | 20981092 |
| nsv1002853 | CNV | gain | 25217958 |
| nsv1003259 | CNV | loss | 25217958 |
| nsv1132827 | CNV | insertion | 24896259 |
| nsv428146 | CNV | gain | 18775914 |
| nsv523220 | CNV | loss | 19592680 |
| nsv526047 | CNV | gain | 19592680 |
| nsv947436 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.67;
91.44% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AGL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGL Gene
Disorders for AGL Gene
(21) MalaCards diseases for AGL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease iii |
|
|
| glycogen storage disease |
|
|
| hypoglycemia |
|
|
| macular telangiectasia type 2 |
|
|
| bladder lateral wall cancer |
|
|
Search AGL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GDE_HUMAN- Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269 PubMed:10571954, ECO:0000269 PubMed:17908927}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for AGL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for AGL Gene
Publications for AGL Gene
- Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PMID: 11378828) Santer R … Schaub J (European journal of human genetics : EJHG 2001) 3 23 41
- Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PMID: 10982190) Okubo M … Murase T (Human genetics 2000) 3 4 23
- Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PMID: 9332391) Bao Y … Chen YT (Gene 1997) 3 4 23
- A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PMID: 8990006) Shen J … Chen YT (Human mutation 1997) 3 23 41
- Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PMID: 8954797) Bao Y … Chen YT (Genomics 1996) 3 4 23
ExternalLinks
Products for AGL Gene
- Custom Antibody ServicesOriGene Antibodies for AGL
- Browse OriGene ELISA Kits
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- MG224581
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- RC215495L1V
- RC215495L2V
- RC215495L3V
- RC215495L4V
- RC215785L3V
- RC215785L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder Stable cell line generation for AGL
- antibodies-online: Show 33 available AGL Antibodies ranked by validation data
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- Horizon Cell Lines for AGL
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGL
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for AGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGL
Sources for AGL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
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- (112) MedlinePlus
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- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
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- (126) IID
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
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- (156) Mastermind
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- (162) GtRNAdb
- (163) LncBase
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- (165) LNCipedia
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- (171) SRPDB
- (172) GENCODE
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- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB