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 27-MAR-2024, entry version 105. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 9796-ENSECAP00000012240; -. DR PeptideAtlas; Q6EAS5; -. DR GeneID; 100034152; -. DR KEGG; ecb:100034152; -. DR CTD; 2632; -. DR InParanoid; Q6EAS5; -. DR OMA; YEMHLGS; -. DR OrthoDB; 96at2759; -. 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 cell types or tissues. DR ExpressionAtlas; Q6EAS5; baseline. DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central. 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:0005978; P:glycogen biosynthetic process; ISS:UniProtKB. DR CDD; cd11321; AmyAc_bac_euk_BE; 1. DR CDD; cd02854; E_set_GBE_euk_N; 1. DR Gene3D; 3.20.20.80; Glycosidases; 1. DR Gene3D; 2.60.40.1180; Golgi alpha-mannosidase II; 1. DR Gene3D; 2.60.40.10; Immunoglobulins; 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; 1,4-ALPHA-GLUCAN-BRANCHING ENZYME; 1. DR PANTHER; PTHR43651:SF3; 1,4-ALPHA-GLUCAN-BRANCHING ENZYME; 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; (Trans)glycosidases; 1. DR SUPFAM; SSF81296; E set domains; 1. DR SUPFAM; SSF51011; Glycosyl hydrolase domain; 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 //