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Q04446

- GLGB_HUMAN

UniProt

Q04446 - GLGB_HUMAN

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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

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 – 3571Nucleophile By similarity
Active sitei412 – 4121Proton donor By 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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti88 – 881C → S in AAA58642. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 145 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

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