AGL
entrez
178
canonical
uniprot
P35573
canonical
ensembl
ENSG00000162688
resolver
ensp
ENSP00000294724
resolver
ensp
ENSP00000355106
resolver
ensp
ENSP00000359180
resolver
ensp
ENSP00000359182
resolver
ensp
ENSP00000359184
resolver
ensp
ENSP00000551313
resolver
ensp
ENSP00000551314
resolver
ensp
ENSP00000551316
resolver
ensp
ENSP00000551318
resolver
ensp
ENSP00000581860
resolver
ensp
ENSP00000581861
resolver
genesymbol
AGL
resolver
genesymbol_syn
GDE
resolver
hgnc
HGNC:321
resolver
uniprot
A6NCX7
resolver
uniprot
A6NEK2
resolver
uniprot
D3DT51
resolver
uniprot
P78354
resolver
uniprot
P78544
resolver
uniprot
Q59H92
resolver
uniprot
Q6AZ90
resolver
uniprot
Q9UF08
resolver
uniprot_entry
GDE_HUMAN
resolver
uniprot_sec
A6NCX7
resolver
uniprot_sec
A6NEK2
resolver
uniprot_sec
D3DT51
resolver
uniprot_sec
P78354
resolver
uniprot_sec
P78544
resolver
uniprot_sec
Q59H92
resolver
uniprot_sec
Q6AZ90
resolver
uniprot_sec
Q9UF08
resolver
amino_acid_sequence
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.25
uniprot
proteins
ec_number
3.2.1.33
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
174764
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked.; PTM: Ubiquitinated. {ECO:0000269|PubMed:17908927}.
uniprot
proteins
protein_family
Glycogen debranching enzyme family
uniprot
proteins
pubmed
10571954
uniprot
proteins
pubmed
10982190
uniprot
proteins
pubmed
1374391
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17908927
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8954797
uniprot
proteins
pubmed
9332391
uniprot
proteins
sequence_length
1532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus.
uniprot
proteins