GLGB_HORSE
ID GLGB_HORSE Reviewed; 699 AA.
AC Q6EAS5;
DT 10-MAY-2005, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=1,4-alpha-glucan-branching enzyme;
DE EC=2.4.1.18 {ECO:0000305|PubMed:15366377};
DE AltName: Full=Brancher enzyme;
DE AltName: Full=Glycogen-branching enzyme {ECO:0000303|PubMed:15366377};
GN Name=GBE1;
OS Equus caballus (Horse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
OX NCBI_TaxID=9796;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], DISEASE, FUNCTION, PATHWAY, AND CATALYTIC
RP ACTIVITY.
RX PubMed=15366377; DOI=10.1007/s00335-004-2369-1;
RA Ward T.L., Valberg S.J., Adelson D.L., Abbey C.A., Binns M.M.,
RA Mickelson J.R.;
RT "Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage
RT disease IV.";
RL Mamm. Genome 15:570-577(2004).
CC -!- FUNCTION: Required for normal glycogen accumulation. The alpha 1-6
CC branches of glycogen play an important role in increasing the
CC solubility of the molecule. {ECO:0000250|UniProtKB:Q04446}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=Transfers a segment of a (1->4)-alpha-D-glucan chain to a
CC primary hydroxy group in a similar glucan chain.; EC=2.4.1.18;
CC Evidence={ECO:0000305|PubMed:15366377};
CC -!- PATHWAY: Glycan biosynthesis; glycogen biosynthesis.
CC {ECO:0000269|PubMed:15366377}.
CC -!- SUBUNIT: Monomer. {ECO:0000250|UniProtKB:Q04446}.
CC -!- DOMAIN: Binds its carbohydrate substrate close to the active site, but
CC also via regions close to the N-terminus; this may result in increased
CC affinity and therefore increased catalytic efficiency.
CC {ECO:0000250|UniProtKB:Q04446}.
CC -!- DISEASE: Note=Defects in GBE1 are the cause of glycogen storage disease
CC IV (GSD-IV). GSD-IV is recessive fatal fetal and neonatal disease in
CC American Quarter horses. {ECO:0000269|PubMed:15366377}.
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 13 family. GlgB
CC subfamily. {ECO:0000305}.
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DR EMBL; AY505107; AAS91786.1; -; mRNA.
DR RefSeq; NP_001075409.1; NM_001081940.2.
DR AlphaFoldDB; Q6EAS5; -.
DR SMR; Q6EAS5; -.
DR STRING; 9796.ENSECAP00000012240; -.
DR CAZy; CBM48; Carbohydrate-Binding Module Family 48.
DR CAZy; GH13; Glycoside Hydrolase Family 13.
DR PaxDb; Q6EAS5; -.
DR PeptideAtlas; Q6EAS5; -.
DR PRIDE; Q6EAS5; -.
DR Ensembl; ENSECAT00000015246; ENSECAP00000012240; ENSECAG00000014096.
DR GeneID; 100034152; -.
DR KEGG; ecb:100034152; -.
DR CTD; 2632; -.
DR VGNC; VGNC:18263; GBE1.
DR GeneTree; ENSGT00390000017040; -.
DR InParanoid; Q6EAS5; -.
DR OrthoDB; 165238at2759; -.
DR BRENDA; 2.4.1.18; 2120.
DR UniPathway; UPA00164; -.
DR Proteomes; UP000002281; Chromosome 26.
DR Bgee; ENSECAG00000014096; Expressed in articular cartilage of joint and 23 other tissues.
DR ExpressionAtlas; Q6EAS5; baseline.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
DR GO; GO:0003844; F:1,4-alpha-glucan branching enzyme activity; ISS:UniProtKB.
DR GO; GO:0102752; F:1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis); IEA:UniProtKB-EC.
DR GO; GO:0043169; F:cation binding; IEA:InterPro.
DR GO; GO:0004553; F:hydrolase activity, hydrolyzing O-glycosyl compounds; IEA:InterPro.
DR GO; GO:0005975; P:carbohydrate metabolic process; IBA:GO_Central.
DR GO; GO:0005978; P:glycogen biosynthetic process; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 2.60.40.1180; -; 1.
DR InterPro; IPR006048; A-amylase/branching_C.
DR InterPro; IPR037439; Branching_enzy.
DR InterPro; IPR006047; Glyco_hydro_13_cat_dom.
DR InterPro; IPR004193; Glyco_hydro_13_N.
DR InterPro; IPR013780; Glyco_hydro_b.
DR InterPro; IPR017853; Glycoside_hydrolase_SF.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR014756; Ig_E-set.
DR PANTHER; PTHR43651; PTHR43651; 1.
DR Pfam; PF00128; Alpha-amylase; 1.
DR Pfam; PF02806; Alpha-amylase_C; 1.
DR Pfam; PF02922; CBM_48; 1.
DR PIRSF; PIRSF000463; GlgB; 1.
DR SMART; SM00642; Aamy; 1.
DR SUPFAM; SSF51445; SSF51445; 1.
DR SUPFAM; SSF81296; SSF81296; 1.
PE 1: Evidence at protein level;
KW Glycogen biosynthesis; Glycogen storage disease; Glycosyltransferase;
KW Phosphoprotein; Reference proteome; Transferase.
FT CHAIN 1..699
FT /note="1,4-alpha-glucan-branching enzyme"
FT /id="PRO_0000188774"
FT ACT_SITE 354
FT /note="Nucleophile"
FT /evidence="ECO:0000250"
FT ACT_SITE 409
FT /note="Proton donor"
FT /evidence="ECO:0000250"
FT BINDING 59..60
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:Q04446"
FT BINDING 88..90
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:Q04446"
FT BINDING 115..118
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:Q04446"
FT BINDING 330..333
FT /ligand="substrate"
FT /evidence="ECO:0000250|UniProtKB:Q04446"
FT MOD_RES 170
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q04446"
SQ SEQUENCE 699 AA; 79978 MW; 19246065A3F7434B CRC64;
MAAPAARADG SDAALAAALA DVPDLGRLLE VDPYLKPYAP DFQRRYNRFS QTLDNIGKNE
GGIDKFSRGY ESFGVHRCAD GGLYCKEWAP GAEGVFLTGD FNDWNPFSYP YKKLDYGKWD
LYIPPKPNKS LLVPHGSKLK VVIRSKSGEI LYRISPWAKY VVRESGNVNY DWIHWDPEQP
YKFKHSRPKK PRSLRIYESH VGISSHEGKI ASYKHFTCNV LPRIKGLGYN CIQMMAIMEH
AYYASFGYQI TSFFAASSRY GTPEELKELV DTAHSMGITV LLDVVHSHAS KNSEDGLNMF
DGTDSCYFHS GPRGTHDLWD SRLFIYSSWE VLRFLLSNIR WWLEEYGFDG FRFDGVTSML
YHHHGIGASF SGDYHEYFGL QVDEDALTYL MLANHLVHTL YPDSITIAED VSGMPALCSP
ISQGGGGFDY RLAMAIPDKW IQLVKEFKDE DWNMGNIVYT LTNRRHLEKC IAYAESHDQA
LVGDKSLAFW LMDAEMYTNM SVLTPFTPVI DRGIQLHKMI RLITHALGGE GYLNFMGNEF
GHPEWLDFPR KGNNESYHYA RRQFHLTDDD LLRYKFLNNF DRDMNKLEER CGWLSAPQAF
VSEKHEGNKV IAFERAALLF IFNFHPSKSY TNYRVGTTLP GKFKIVLDSD AAEYGGHQRL
DHNTDFFSEP YEHNERPSSL LVYIPSRVAL ILQNVDPPN
