RBCC Red Blood Cell Collection

GDE_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: AGL , GDE
Protein names and data: GDE_HUMAN , Glycogen debranching enzyme , Glycogen debrancher; 4-alpha-glucanotransferase; 2.4.1.25; Oligo-1,4-1,4-glucantransferase; Amylo-alpha-1,6-glucosidase; Amylo-1,6-glucosidase; 3.2.1.33; Dextrin 6-alpha-D-glucosidase Lenght: 1532 a.a.
Mass: 174764 Da
fasta formatted sequence
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.
Catalytic activity: 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. Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
Disease: ( OMIM: 232400 610860 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.
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.

Genetic variants

38 - 38 T -> A (in dbSNP:rs35278779). VAR_032084 35278779
229 - 229 Q -> R (in dbSNP:rs17121403). VAR_028051 17121403
387 - 387 R -> Q (in dbSNP:rs17121464). VAR_009621 17121464
701 - 701 A -> S (in dbSNP:rs3736297). VAR_028052 3736297
962 - 962 S -> C (in dbSNP:rs34714252). VAR_032085 34714252
1067 - 1067 P -> S (in dbSNP:rs3753494). VAR_020389 3753494
1115 - 1115 G -> R (in dbSNP:rs2230307). VAR_009230 2230307
1144 - 1144 I -> N (in dbSNP:rs2230308). VAR_028053 2230308
1207 - 1207 A -> T (in dbSNP:rs11807956). VAR_051010 11807956
1253 - 1253 R -> H (in dbSNP:rs12043139). VAR_028054 12043139
1343 - 1343 E -> K (in dbSNP:rs112795811). VAR_009622 112795811
1448 - 1448 G -> R (in GSD3; deficient in ability to bind glycogen; unstable due to enhanced ubiquitination; forms aggresomes upon proteasome impairment). VAR_009231
1487 - 1487 R -> G (in dbSNP:rs12118058). VAR_028055 12118058

Database cross-references

UniProt: P35573
Ensembl: ENST00000294724
Ensembl: ENST00000361302
Ensembl: ENST00000361522
Ensembl: ENST00000361915
Ensembl: ENST00000370161
Ensembl: ENST00000370163
Ensembl: ENST00000370165
MIM: 232400
MIM: 610860
neXtProt: NX_P35573
Antibodypedia: P35573 (may not find the protein thus also not any antibody)
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