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Q04446

- GLGB_HUMAN

UniProt

Q04446 - GLGB_HUMAN

Protein

1,4-alpha-glucan-branching enzyme

Gene

GBE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 3 (16 Nov 2011)
      Previous versions | rss
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    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 sitei357 – 3571NucleophileBy similarity
    Active sitei412 – 4121Proton donorBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. generation of precursor metabolites and energy Source: ProtInc
    3. glucose metabolic process Source: Reactome
    4. glycogen biosynthetic process Source: Reactome
    5. glycogen metabolic process Source: ProtInc
    6. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Glycogen biosynthesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS03772-MONOMER.
    ReactomeiREACT_169208. Glycogen synthesis.
    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:4180. GBE1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. extracellular vesicular exosome Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Glycogen storage disease 4 (GSD4) [MIM:232500]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti224 – 2241L → P in GSD4; loss of activity. 1 Publication
    VAR_022429
    Natural varianti257 – 2571F → L in GSD4; loss of activity. 1 Publication
    VAR_022430
    Natural varianti329 – 3291Y → S in GSD4; non-progressive form; 50% residual activity. 1 Publication
    VAR_022431
    Natural varianti515 – 5151R → C in GSD4; loss of activity. 1 Publication
    VAR_022432
    Natural varianti524 – 5241R → Q in GSD4 and APBD. 3 Publications
    VAR_022434
    Natural varianti545 – 5451H → R in GSD4. 1 Publication
    VAR_022435
    Natural varianti628 – 6281H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 Publication
    VAR_022436
    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.
    Adult polyglucosan body disease (APBD) [MIM:263570]: A 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 APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti515 – 5151R → H in APBD. 1 Publication
    VAR_022433
    Natural varianti524 – 5241R → Q in GSD4 and APBD. 3 Publications
    VAR_022434

    Keywords - Diseasei

    Disease mutation, Glycogen storage disease

    Organism-specific databases

    MIMi232500. phenotype.
    263570. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 7027011,4-alpha-glucan-branching enzymePRO_0000188775Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei173 – 1731Phosphotyrosine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ04446.
    PaxDbiQ04446.
    PRIDEiQ04446.

    PTM databases

    PhosphoSiteiQ04446.

    Expressioni

    Tissue specificityi

    Highest levels found in liver and muscle.

    Gene expression databases

    ArrayExpressiQ04446.
    BgeeiQ04446.
    CleanExiHS_GBE1.
    GenevestigatoriQ04446.

    Organism-specific databases

    HPAiHPA038073.
    HPA038074.
    HPA038075.

    Interactioni

    Subunit structurei

    Monomer.

    Protein-protein interaction databases

    BioGridi108902. 10 interactions.
    IntActiQ04446. 4 interactions.
    MINTiMINT-1415803.
    STRINGi9606.ENSP00000410833.

    Structurei

    Secondary structure

    1
    702
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi45 – 6218
    Helixi66 – 694
    Helixi70 – 745
    Beta strandi76 – 805
    Beta strandi86 – 916
    Beta strandi96 – 1027
    Helixi103 – 1053
    Beta strandi109 – 1135
    Beta strandi121 – 1266
    Beta strandi141 – 1477
    Beta strandi153 – 1564
    Beta strandi174 – 1763
    Beta strandi195 – 20410
    Beta strandi207 – 2126
    Helixi216 – 2227
    Helixi224 – 2307
    Beta strandi234 – 2396
    Helixi246 – 2483
    Beta strandi254 – 2596
    Helixi261 – 2633
    Helixi266 – 27813
    Beta strandi282 – 2887
    Beta strandi296 – 3005
    Turni301 – 3044
    Beta strandi305 – 3073
    Beta strandi309 – 3113
    Helixi315 – 3173
    Turni320 – 3234
    Helixi332 – 34716
    Beta strandi353 – 3575
    Helixi359 – 3635
    Helixi387 – 40317
    Beta strandi408 – 4114
    Turni418 – 4214
    Helixi424 – 4263
    Beta strandi432 – 4354
    Helixi438 – 44912
    Helixi452 – 4543
    Helixi457 – 4659
    Beta strandi473 – 4753
    Helixi481 – 4833
    Helixi490 – 4956
    Helixi496 – 5005
    Helixi511 – 53020
    Beta strandi533 – 5386
    Helixi541 – 5433
    Helixi554 – 5563
    Helixi567 – 5704
    Helixi577 – 59418
    Beta strandi597 – 5993
    Beta strandi603 – 6086
    Turni609 – 6124
    Beta strandi613 – 6186
    Beta strandi621 – 6266
    Beta strandi633 – 64210
    Beta strandi644 – 6518
    Helixi655 – 6573
    Beta strandi669 – 6735
    Beta strandi679 – 6879
    Beta strandi691 – 6988

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4BZYX-ray2.75A/B/C1-702[»]
    ProteinModelPortaliQ04446.
    SMRiQ04446. Positions 44-699.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0296.
    HOVERGENiHBG051734.
    InParanoidiQ04446.
    KOiK00700.
    OMAiGPRGTHD.
    TreeFamiTF300783.

    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.

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

    Q04446-1 [UniParc]FASTAAdd to Basket

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    MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK    50
    QFSQILKNIG ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL 100
    TGDFNGWNPF SYPYKKLDYG KWELYIPPKQ NKSVLVPHGS KLKVVITSKS 150
    GEILYRISPW AKYVVREGDN VNYDWIHWDP EHSYEFKHSR PKKPRSLRIY 200
    ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI MEHAYYASFG 250
    YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL 300
    NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR 350
    FDGFRFDGVT SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV 400
    HTLCPDSITI AEDVSGMPAL CSPISQGGGG FDYRLAMAIP DKWIQLLKEF 450
    KDEDWNMGDI VYTLTNRRYL EKCIAYAESH DQALVGDKSL AFWLMDAEMY 500
    TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG NEFGHPEWLD 550
    FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP 600
    QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL 650
    DSDAAEYGGH QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL 700
    PN 702
    Length:702
    Mass (Da):80,474
    Last modified:November 16, 2011 - v3
    Checksum:iDEF534C821A72323
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti88 – 881C → S in AAA58642. (PubMed:8463281)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti190 – 1901R → G.
    Corresponds to variant rs2229519 [ dbSNP | Ensembl ].
    VAR_022109
    Natural varianti224 – 2241L → P in GSD4; loss of activity. 1 Publication
    VAR_022429
    Natural varianti257 – 2571F → L in GSD4; loss of activity. 1 Publication
    VAR_022430
    Natural varianti265 – 2651T → S.1 Publication
    Corresponds to variant rs17856389 [ dbSNP | Ensembl ].
    VAR_034747
    Natural varianti329 – 3291Y → S in GSD4; non-progressive form; 50% residual activity. 1 Publication
    VAR_022431
    Natural varianti334 – 3341I → V.2 Publications
    Corresponds to variant rs2172397 [ dbSNP | Ensembl ].
    VAR_034748
    Natural varianti507 – 5071T → A.
    Corresponds to variant rs2228389 [ dbSNP | Ensembl ].
    VAR_034749
    Natural varianti515 – 5151R → C in GSD4; loss of activity. 1 Publication
    VAR_022432
    Natural varianti515 – 5151R → H in APBD. 1 Publication
    VAR_022433
    Natural varianti524 – 5241R → Q in GSD4 and APBD. 3 Publications
    VAR_022434
    Natural varianti545 – 5451H → R in GSD4. 1 Publication
    VAR_022435
    Natural varianti628 – 6281H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 Publication
    VAR_022436

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi357529509.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS54612.1.
    PIRi A46075.
    RefSeqi NP_000149.3. NM_000158.3.
    UniGenei Hs.436062.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4BZY X-ray 2.75 A/B/C 1-702 [» ]
    ProteinModelPortali Q04446.
    SMRi Q04446. Positions 44-699.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108902. 10 interactions.
    IntActi Q04446. 4 interactions.
    MINTi MINT-1415803.
    STRINGi 9606.ENSP00000410833.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q04446.

    Polymorphism databases

    DMDMi 357529509.

    Proteomic databases

    MaxQBi Q04446.
    PaxDbi Q04446.
    PRIDEi Q04446.

    Protocols and materials databases

    DNASUi 2632.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000429644 ; ENSP00000410833 ; ENSG00000114480 .
    GeneIDi 2632.
    KEGGi hsa:2632.

    Organism-specific databases

    CTDi 2632.
    GeneCardsi GC03M081621.
    GeneReviewsi GBE1.
    HGNCi HGNC:4180. GBE1.
    HPAi HPA038073.
    HPA038074.
    HPA038075.
    MIMi 232500. phenotype.
    263570. phenotype.
    607839. gene.
    neXtProti NX_Q04446.
    Orphaneti 206583. 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.
    PharmGKBi PA28594.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0296.
    HOVERGENi HBG051734.
    InParanoidi Q04446.
    KOi K00700.
    OMAi GPRGTHD.
    TreeFami TF300783.

    Enzyme and pathway databases

    UniPathwayi UPA00164 .
    BioCyci MetaCyc:HS03772-MONOMER.
    Reactomei REACT_169208. Glycogen synthesis.

    Miscellaneous databases

    ChiTaRSi GBE1. human.
    GeneWikii GBE1.
    GenomeRNAii 2632.
    NextBioi 10376.
    PROi Q04446.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q04446.
    Bgeei Q04446.
    CleanExi HS_GBE1.
    Genevestigatori Q04446.

    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. "Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast."
      Thon V.J., Khalil M., Cannon J.F.
      J. Biol. Chem. 268:7509-7513(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-334.
      Tissue: Liver.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-265 AND VAL-334.
      Tissue: B-cell.
    5. "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
      Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
      Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-173, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    8. "Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene."
      Bao Y., Kishnani P., Wu J.Y., Chen Y.T.
      J. Clin. Invest. 97:941-948(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GSD4 PRO-224; LEU-257; SER-329 AND CYS-515.
    9. "A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy."
      Bruno C., DiRocco M., Lamba L.D., Bado M., Marino C., Tsujino S., Shanske S., Stella G., Minetti C., van Diggelen O.P., DiMauro S.
      Neuromuscul. Disord. 9:403-407(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GSD4 GLN-524.
    10. "Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease."
      Ziemssen F., Sindern E., Schroder J.M., Shin Y.S., Zange J., Kilimann M.W., Malin J.P., Vorgerd M.
      Ann. Neurol. 47:536-540(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS APBD HIS-515 AND GLN-524.
    11. Cited for: VARIANTS GSD4 GLN-524; ARG-545 AND ARG-628.

    Entry informationi

    Entry nameiGLGB_HUMAN
    AccessioniPrimary (citable) accession number: Q04446
    Secondary accession number(s): B3KWV3, Q96EN0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 16, 2011
    Last modified: October 1, 2014
    This is version 146 of the entry and version 3 of the sequence. [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

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    8. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3