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Q6EAS5

- GLGB_HORSE

UniProt

Q6EAS5 - GLGB_HORSE

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Protein
1,4-alpha-glucan-branching enzyme
Gene
GBE1
Organism
Equus caballus (Horse)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.

Catalytic activityi

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

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei354 – 3541Nucleophile By similarity
Active sitei409 – 4091Proton donor By similarity

GO - Molecular functioni

  1. 1,4-alpha-glucan branching enzyme activity Source: UniProtKB-EC
  2. cation binding Source: InterPro
  3. hydrolase activity, hydrolyzing O-glycosyl compounds Source: InterPro

GO - Biological processi

  1. glycogen biosynthetic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Glycogen biosynthesis

Enzyme and pathway databases

BRENDAi2.4.1.18. 2120.
UniPathwayiUPA00164.

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:2.4.1.18)
Alternative name(s):
Brancher enzyme
Glycogen-branching enzyme
Gene namesi
Name:GBE1
OrganismiEquus caballus (Horse)
Taxonomic identifieri9796 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaPerissodactylaEquidaeEquus
ProteomesiUP000002281: Unplaced

Pathology & Biotechi

Involvement in diseasei

Defects in GBE1 are the cause of glycogen storage disease IV (GSD-IV). GSD-IV is recessive fatal fetal and neonatal disease in American Quarter horses.1 Publication

Keywords - Diseasei

Glycogen storage disease

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 6996991,4-alpha-glucan-branching enzyme
PRO_0000188774Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei170 – 1701Phosphotyrosine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ6EAS5.

Interactioni

Subunit structurei

Monomer.

Structurei

3D structure databases

ProteinModelPortaliQ6EAS5.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0296.
HOGENOMiHOG000175159.
HOVERGENiHBG051734.
InParanoidiQ6EAS5.
KOiK00700.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
2.60.40.1180. 1 hit.
3.20.20.80. 1 hit.
InterProiIPR006048. A-amylase_b_C.
IPR006407. GlgB.
IPR015902. Glyco_hydro_13.
IPR013780. Glyco_hydro_13_b.
IPR006047. Glyco_hydro_13_cat_dom.
IPR004193. Glyco_hydro_13_N.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
[Graphical view]
PANTHERiPTHR10357. PTHR10357. 1 hit.
PfamiPF00128. Alpha-amylase. 1 hit.
PF02806. Alpha-amylase_C. 1 hit.
PF02922. CBM_48. 1 hit.
[Graphical view]
PIRSFiPIRSF000463. GlgB. 1 hit.
SUPFAMiSSF51445. SSF51445. 1 hit.
SSF81296. SSF81296. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6EAS5-1 [UniParc]FASTAAdd to Basket

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MAAPAARADG SDAALAAALA DVPDLGRLLE VDPYLKPYAP DFQRRYNRFS    50
QTLDNIGKNE GGIDKFSRGY ESFGVHRCAD GGLYCKEWAP GAEGVFLTGD 100
FNDWNPFSYP YKKLDYGKWD LYIPPKPNKS LLVPHGSKLK VVIRSKSGEI 150
LYRISPWAKY VVRESGNVNY DWIHWDPEQP YKFKHSRPKK PRSLRIYESH 200
VGISSHEGKI ASYKHFTCNV LPRIKGLGYN CIQMMAIMEH AYYASFGYQI 250
TSFFAASSRY GTPEELKELV DTAHSMGITV LLDVVHSHAS KNSEDGLNMF 300
DGTDSCYFHS GPRGTHDLWD SRLFIYSSWE VLRFLLSNIR WWLEEYGFDG 350
FRFDGVTSML YHHHGIGASF SGDYHEYFGL QVDEDALTYL MLANHLVHTL 400
YPDSITIAED VSGMPALCSP ISQGGGGFDY RLAMAIPDKW IQLVKEFKDE 450
DWNMGNIVYT LTNRRHLEKC IAYAESHDQA LVGDKSLAFW LMDAEMYTNM 500
SVLTPFTPVI DRGIQLHKMI RLITHALGGE GYLNFMGNEF GHPEWLDFPR 550
KGNNESYHYA RRQFHLTDDD LLRYKFLNNF DRDMNKLEER CGWLSAPQAF 600
VSEKHEGNKV IAFERAALLF IFNFHPSKSY TNYRVGTTLP GKFKIVLDSD 650
AAEYGGHQRL DHNTDFFSEP YEHNERPSSL LVYIPSRVAL ILQNVDPPN 699
Length:699
Mass (Da):79,978
Last modified:August 16, 2004 - v1
Checksum:i19246065A3F7434B
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY505107 mRNA. Translation: AAS91786.1.
RefSeqiNP_001075409.1. NM_001081940.1.
UniGeneiEca.12624.

Genome annotation databases

GeneIDi100034152.
KEGGiecb:100034152.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY505107 mRNA. Translation: AAS91786.1 .
RefSeqi NP_001075409.1. NM_001081940.1.
UniGenei Eca.12624.

3D structure databases

ProteinModelPortali Q6EAS5.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

CAZyi CBM48. Carbohydrate-Binding Module Family 48.
GH13. Glycoside Hydrolase Family 13.

Proteomic databases

PRIDEi Q6EAS5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 100034152.
KEGGi ecb:100034152.

Organism-specific databases

CTDi 2632.

Phylogenomic databases

eggNOGi COG0296.
HOGENOMi HOG000175159.
HOVERGENi HBG051734.
InParanoidi Q6EAS5.
KOi K00700.

Enzyme and pathway databases

UniPathwayi UPA00164 .
BRENDAi 2.4.1.18. 2120.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
2.60.40.1180. 1 hit.
3.20.20.80. 1 hit.
InterProi IPR006048. A-amylase_b_C.
IPR006407. GlgB.
IPR015902. Glyco_hydro_13.
IPR013780. Glyco_hydro_13_b.
IPR006047. Glyco_hydro_13_cat_dom.
IPR004193. Glyco_hydro_13_N.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
[Graphical view ]
PANTHERi PTHR10357. PTHR10357. 1 hit.
Pfami PF00128. Alpha-amylase. 1 hit.
PF02806. Alpha-amylase_C. 1 hit.
PF02922. CBM_48. 1 hit.
[Graphical view ]
PIRSFi PIRSF000463. GlgB. 1 hit.
SUPFAMi SSF51445. SSF51445. 1 hit.
SSF81296. SSF81296. 1 hit.
ProtoNeti Search...

Publicationsi

  1. "Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV."
    Ward T.L., Valberg S.J., Adelson D.L., Abbey C.A., Binns M.M., Mickelson J.R.
    Mamm. Genome 15:570-577(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE.

Entry informationi

Entry nameiGLGB_HORSE
AccessioniPrimary (citable) accession number: Q6EAS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: August 16, 2004
Last modified: January 22, 2014
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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