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Q6EAS5

- GLGB_HORSE

UniProt

Q6EAS5 - GLGB_HORSE

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
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 1 (16 Aug 2004)
      Previous versions | rss
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    • Comment

    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 – 3541NucleophileBy similarity
    Active sitei409 – 4091Proton donorBy 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

    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 enzymePRO_0000188774Add
    BLAST

    Amino acid modifications

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

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PRIDEiQ6EAS5.

    Interactioni

    Subunit structurei

    Monomer.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6EAS5.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    « Hide

    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: October 1, 2014
    This is version 69 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