• Gene id: 178

Gene Summary

• Gene Symbol: AGL   Gene   UCSC   Ensembl
• Aliases: GDE
• Gene name: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
• Alternate names: glycogen debranching enzyme, amylo-1, 6-glucosidase, 4-alpha-glucanotransferase, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided, glycogen debrancher, glycogen debranching protein,
• Gene location: 1p21.2 (99850076: 99924022)     Exons: 37     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 610860

SNPs

rs4804490

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156335C>A
NC_000019.9   g.10267011C>A
NG_028016.3   g.79952G>T|SEQ=[C/A]|GENE=DNMT1

rs2424909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32774055T>C
NC_000020.10   g.31361861T>C
NG_007290.1   g.16671T>C|SEQ=[T/C]|GENE=DNMT3B

rs16999593

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10180505T>C
NC_000019.9   g.10291181T>C
NG_028016.3   g.55782A>G
NM_001379.4   c.290A>G
NM_001379.3   c.290A>G
NM_001379.2   c.290A>G
NM_001130823.3   c.290A>G
NM_001130823.2   c.290A>G
NM_001130823.1   c.290A>G
NM_001318730.2   c.290A>G
NM_001318730.1  

rs2228612

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10162696T>A
NC_000019.10   g.10162696T>C
NC_000019.10   g.10162696T>G
NC_000019.9   g.10273372T>A
NC_000019.9   g.10273372T>C
NC_000019.9   g.10273372T>G
NG_028016.3   g.73591A>T
NG_028016.3   g.73591A>G
NG_028016.3   g.73591A>C
NM_001379.4   c.931A>T
N  

rs2228611

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156401T>A
NC_000019.10   g.10156401T>C
NC_000019.9   g.10267077T>A
NC_000019.9   g.10267077T>C
NG_028016.3   g.79886A>T
NG_028016.3   g.79886A>G
NM_001379.4   c.1341A>T
NM_001379.4   c.1341A>G
NM_001379.3   c.1341A>T
NM_001379.3   c.1341A>G
NM_001379.  

Protein Summary

• Protein general information: P35573  
  • Name: Glycogen debranching enzyme (Glycogen debrancher) [Includes: 4 alpha glucanotransferase (EC 2.4.1.25) (Oligo 1,4 1,4 glucantransferase); Amylo alpha 1,6 glucosidase (Amylo 1,6 glucosidase) (EC 3.2.1.33) (Dextrin 6 alpha D glucosidase)]
  • Length: 1532  
  • Mass: 174764
  • 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 m
• Sequence:

  MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTERED
  DSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVA
  KESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANS
  KWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
  FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFH
  KRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPN
  KACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRL
  DNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
  VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEER
  FYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTA
  FRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVAT
  KGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
  LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLI
  SRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGV
  GKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIIL
  AFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
  FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIP
  ATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNE
  KHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYC
  GIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
  PELTNENAQYCPFSCETQAWSIATILETLYDL

• Structural information:
  • Interpro: IPR008928  IPR010401  IPR032788  IPR029436  IPR032792   IPR032790  IPR006421  IPR017853  
  • CDD: cd11327
  • STRING: ENSP00000294724
• Other Databases: GeneCards:  AGL  Malacards:  AGL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0004134	4-alpha-glucanotransferase activity	IBA	molecular function
GO:0005980	glycogen catabolic process	IBA	biological process
GO:0004135	amylo-alpha-1,6-glucosidase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004135	amylo-alpha-1,6-glucosidase activity	IEA	molecular function
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004134	4-alpha-glucanotransferase activity	IEA	molecular function
GO:0005980	glycogen catabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004133	glycogen debranching enzyme activity	TAS	molecular function
GO:0043033	isoamylase complex	TAS	cellular component
GO:0102500	beta-maltose 4-alpha-glucanotransferase activity	IEA	molecular function
GO:0004135	amylo-alpha-1,6-glucosidase activity	IEA	molecular function
GO:0004134	4-alpha-glucanotransferase activity	IEA	molecular function
GO:0004134	4-alpha-glucanotransferase activity	EXP	molecular function
GO:0004135	amylo-alpha-1,6-glucosidase activity	EXP	molecular function
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0004135	amylo-alpha-1,6-glucosidase activity	IEA	molecular function
GO:0031593	polyubiquitin modification-dependent protein binding	IEA	molecular function
GO:0030247	polysaccharide binding	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0004133	glycogen debranching enzyme activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0009725	response to hormone	IEA	biological process
GO:0005980	glycogen catabolic process	IEA	biological process
GO:0004134	4-alpha-glucanotransferase activity	IEA	molecular function
GO:0016234	inclusion body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type III	KEGG:H01941
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type III	KEGG:H01941
Glycogen storage disease	PMID:16705713
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)