GBE1

Protein identityUniProt · HPA

UniProt accession

Q04446

Gene

GBE1

Ensembl

ENSG00000114480

Chromosome

3

Canonical length

702 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

702 residues, UniProt reviewed canonical sequence.

>Q04446|GBE1
     1  MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK QFSQILKNIG
    61  ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL TGDFNGWNPF SYPYKKLDYG
   121  KWELYIPPKQ NKSVLVPHGS KLKVVITSKS GEILYRISPW AKYVVREGDN VNYDWIHWDP
   181  EHSYEFKHSR PKKPRSLRIY ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI
   241  MEHAYYASFG YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL
   301  NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR FDGFRFDGVT
   361  SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV HTLCPDSITI AEDVSGMPAL
   421  CSPISQGGGG FDYRLAMAIP DKWIQLLKEF KDEDWNMGDI VYTLTNRRYL EKCIAYAESH
   481  DQALVGDKSL AFWLMDAEMY TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG
   541  NEFGHPEWLD FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP
   601  QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL DSDAAEYGGH
   661  QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL PN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GBE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.21

Highest tissue expression

142 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GBE1.

Disease | AllUniProt

Conditions GBE1 is implicated in, by any mechanism.

• Glycogen storage disease 4 (GSD4) MIM:232500
• Polyglucosan body neuropathy, adult form (APBN) MIM:263570

Disease | GeneticClinVar

206 pathogenic / likely-pathogenic of 1,122 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycogen storage disease, type IV
• Glycogen storage disease IV, classic hepatic
• Adult polyglucosan body disease
• GBE1-related disorder
• Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.97

gnomAD pLI

0

gnomAD missense Z

0.09

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• generation of precursor metabolites and energy
• glycogen biosynthetic process
• glycogen metabolic process
• negative regulation of neuron apoptotic process

Molecular functions

• carbohydrate binding
• cation binding
• hydrolase activity, hydrolyzing O-glycosyl compounds
• 1,4-alpha-glucan branching enzyme activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Glycosyl hydrolase family 13, catalytic domain
• Alpha-amylase/branching enzyme, C-terminal all beta
• Glycosyl hydrolase, all-beta
• Immunoglobulin-like fold
• Immunoglobulin E-set
• Glycoside hydrolase superfamily
• Alpha amylase, catalytic domain
• Alpha amylase, C-terminal all-beta domain
• Glycoside hydrolase, family 13, N-terminal
• 1,4-alpha-glucan-branching enzyme
• Carbohydrate-binding module 48 (Isoamylase N-terminal domain)

KeywordsUniProt

• Acetylation
• Glycogen biosynthesis
• Glycogen storage disease
• Glycosyltransferase
• Neuropathy
• Phosphoprotein
• Transferase