GBE1
entrez
2632
canonical
uniprot
Q04446
canonical
ensembl
ENSG00000114480
resolver
ensp
ENSP00000410833
resolver
enst
ENST00000429644
resolver
genesymbol
GBE1
resolver
hgnc
HGNC:4180
resolver
uniprot
B3KWV3
resolver
uniprot
Q59ET0
resolver
uniprot
Q96EN0
resolver
uniprot_entry
GLGB_HUMAN
resolver
uniprot_entry
Q59ET0_HUMAN
resolver
uniprot_sec
B3KWV3
resolver
uniprot_sec
Q96EN0
resolver
amino_acid_sequence
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. {ECO:0000269|PubMed:10545044, ECO:0000269|PubMed:15452297, ECO:0000269|PubMed:8613547}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. {ECO:0000269|PubMed:15452297}.; DISEASE: Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. {ECO:0000269|PubMed:10762170}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.18
uniprot
proteins
function
FUNCTION: Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer (PubMed:26199317, PubMed:8463281, PubMed:8613547). {ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281, ECO:0000269|PubMed:8613547}.
uniprot
proteins
mass_dalton
80474
uniprot
proteins
pathway_participation
PATHWAY: Glycan biosynthesis; glycogen biosynthesis. {ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281, ECO:0000269|PubMed:8613547}.
uniprot
proteins
protein_family
GlgB subfamily
uniprot
proteins
protein_family
Glycosyl hydrolase 13 family
uniprot
proteins
pubmed
10545044
uniprot
proteins
pubmed
10762170
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15452297
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26199317
uniprot
proteins
pubmed
8463281
uniprot
proteins
pubmed
8613547
uniprot
proteins
sequence_length
702
uniprot
proteins