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Protein

1,4-alpha-glucan-branching enzyme

Gene

GBE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).Curated3 Publications

Catalytic activityi

Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.1 Publication2 Publications

Pathwayi: glycogen biosynthesis

This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.3 Publications
View all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei357NucleophileBy similarity1
Active sitei412Proton donorBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS03772-MONOMER
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3878781 Glycogen storage disease type IV (GBE1)
UniPathwayi
UPA00164

Protein family/group databases

CAZyiCBM48 Carbohydrate-Binding Module Family 48
GH13 Glycoside Hydrolase Family 13

Names & Taxonomyi

Protein namesi
Recommended name:
1,4-alpha-glucan-branching enzyme (EC:2.4.1.181 Publication2 Publications)
Alternative name(s):
Brancher enzyme
Glycogen-branching enzyme
Gene namesi
Name:GBE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114480.12
HGNCiHGNC:4180 GBE1
MIMi607839 gene
neXtProtiNX_Q04446

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 4 (GSD4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:232500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022429224L → P in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852886EnsemblClinVar.1
Natural variantiVAR_022430257F → L in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852887EnsemblClinVar.1
Natural variantiVAR_022431329Y → S in GSD4; non-progressive form; impairs protein stability; 50% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs80338671EnsemblClinVar.1
Natural variantiVAR_022432515R → C in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80338672EnsemblClinVar.1
Natural variantiVAR_022435545H → R in GSD4. 1 PublicationCorresponds to variant dbSNP:rs137852889EnsemblClinVar.1
Natural variantiVAR_022436628H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 PublicationCorresponds to variant dbSNP:rs137852891EnsemblClinVar.1
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.1 Publication
Polyglucosan body neuropathy, adult form (APBN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:263570
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022433515R → H in APBN. 1 PublicationCorresponds to variant dbSNP:rs201958741EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease, Neuropathy

Organism-specific databases

DisGeNETi2632
GeneReviewsiGBE1
MalaCardsiGBE1
MIMi232500 phenotype
263570 phenotype
OpenTargetsiENSG00000114480
Orphaneti206583 Adult polyglucosan body disease
308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
PharmGKBiPA28594

Polymorphism and mutation databases

BioMutaiGBE1
DMDMi357529509

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001887752 – 7021,4-alpha-glucan-branching enzymeAdd BLAST701

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei173PhosphotyrosineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ04446
MaxQBiQ04446
PaxDbiQ04446
PeptideAtlasiQ04446
PRIDEiQ04446
ProteomicsDBi58242

PTM databases

CarbonylDBiQ04446
iPTMnetiQ04446
PhosphoSitePlusiQ04446
SwissPalmiQ04446

Expressioni

Gene expression databases

BgeeiENSG00000114480 Expressed in 235 organ(s), highest expression level in adipose tissue
CleanExiHS_GBE1
ExpressionAtlasiQ04446 baseline and differential
GenevisibleiQ04446 HS

Organism-specific databases

HPAiHPA038073
HPA038074
HPA038075

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi108902, 29 interactors
IntActiQ04446, 12 interactors
MINTiQ04446
STRINGi9606.ENSP00000410833

Structurei

Secondary structure

1702
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ04446
SMRiQ04446
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni62 – 63Substrate bindingCombined sources1 Publication2
Regioni91 – 93Substrate bindingCombined sources1 Publication3
Regioni118 – 121Substrate bindingCombined sources1 Publication4
Regioni333 – 336Substrate bindingCombined sources1 Publication4

Domaini

Binds its carbohydrate substrate close to the active site, but also via regions close to the N-terminus; this may result in increased affinity and therefore increased catalytic efficiency.1 Publication

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0470 Eukaryota
COG0296 LUCA
GeneTreeiENSGT00390000017040
HOVERGENiHBG051734
InParanoidiQ04446
KOiK00700
OMAiEVVHGKS
OrthoDBiEOG091G02KX
TreeFamiTF300783

Family and domain databases

Gene3Di2.60.40.10, 1 hit
2.60.40.1180, 1 hit
InterProiView protein in InterPro
IPR006048 A-amylase/branching_C
IPR037439 Branching_enzy
IPR006047 Glyco_hydro_13_cat_dom
IPR004193 Glyco_hydro_13_N
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
PANTHERiPTHR43651 PTHR43651, 1 hit
PfamiView protein in Pfam
PF00128 Alpha-amylase, 1 hit
PF02806 Alpha-amylase_C, 1 hit
PF02922 CBM_48, 1 hit
PIRSFiPIRSF000463 GlgB, 1 hit
SMARTiView protein in SMART
SM00642 Aamy, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF81296 SSF81296, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

Q04446-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK
60 70 80 90 100
QFSQILKNIG ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL
110 120 130 140 150
TGDFNGWNPF SYPYKKLDYG KWELYIPPKQ NKSVLVPHGS KLKVVITSKS
160 170 180 190 200
GEILYRISPW AKYVVREGDN VNYDWIHWDP EHSYEFKHSR PKKPRSLRIY
210 220 230 240 250
ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI MEHAYYASFG
260 270 280 290 300
YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL
310 320 330 340 350
NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR
360 370 380 390 400
FDGFRFDGVT SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV
410 420 430 440 450
HTLCPDSITI AEDVSGMPAL CSPISQGGGG FDYRLAMAIP DKWIQLLKEF
460 470 480 490 500
KDEDWNMGDI VYTLTNRRYL EKCIAYAESH DQALVGDKSL AFWLMDAEMY
510 520 530 540 550
TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG NEFGHPEWLD
560 570 580 590 600
FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP
610 620 630 640 650
QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL
660 670 680 690 700
DSDAAEYGGH QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL

PN
Length:702
Mass (Da):80,474
Last modified:November 16, 2011 - v3
Checksum:iDEF534C821A72323
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PGM4E9PGM4_HUMAN
1,4-alpha-glucan-branching enzyme
GBE1
661Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti88C → S in AAA58642 (PubMed:8463281).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022109190R → G. Corresponds to variant dbSNP:rs2229519EnsemblClinVar.1
Natural variantiVAR_022429224L → P in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852886EnsemblClinVar.1
Natural variantiVAR_022430257F → L in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852887EnsemblClinVar.1
Natural variantiVAR_034747265T → S1 PublicationCorresponds to variant dbSNP:rs17856389Ensembl.1
Natural variantiVAR_022431329Y → S in GSD4; non-progressive form; impairs protein stability; 50% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs80338671EnsemblClinVar.1
Natural variantiVAR_034748334I → V2 PublicationsCorresponds to variant dbSNP:rs2172397Ensembl.1
Natural variantiVAR_034749507T → A. Corresponds to variant dbSNP:rs2228389EnsemblClinVar.1
Natural variantiVAR_022432515R → C in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80338672EnsemblClinVar.1
Natural variantiVAR_022433515R → H in APBN. 1 PublicationCorresponds to variant dbSNP:rs201958741EnsemblClinVar.1
Natural variantiVAR_022434524R → Q in GSD4 and APBN. 3 PublicationsCorresponds to variant dbSNP:rs80338673EnsemblClinVar.1
Natural variantiVAR_022435545H → R in GSD4. 1 PublicationCorresponds to variant dbSNP:rs137852889EnsemblClinVar.1
Natural variantiVAR_022436628H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 PublicationCorresponds to variant dbSNP:rs137852891EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07956 mRNA Translation: AAA58642.1
AK125918 mRNA Translation: BAG54265.1
AC017015 Genomic DNA No translation available.
AC025029 Genomic DNA No translation available.
AC099049 Genomic DNA No translation available.
BC012098 mRNA Translation: AAH12098.1
CCDSiCCDS54612.1
PIRiA46075
RefSeqiNP_000149.3, NM_000158.3
UniGeneiHs.436062

Genome annotation databases

EnsembliENST00000429644; ENSP00000410833; ENSG00000114480
GeneIDi2632
KEGGihsa:2632
UCSCiuc062lqz.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLGB_HUMAN
AccessioniPrimary (citable) accession number: Q04446
Secondary accession number(s): B3KWV3, Q96EN0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 16, 2011
Last modified: September 12, 2018
This is version 181 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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