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Protein

1,4-alpha-glucan-branching enzyme

Gene

GBE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 – 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. pathogenesis Source: Reactome
  7. 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 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4180. GBE1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 4 (GSD4)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:232500
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 APBN. 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.

Polyglucosan body neuropathy, adult form (APBN)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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 APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.

See also OMIM:263570
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti515 – 5151R → H in APBN. 1 Publication
VAR_022433
Natural varianti524 – 5241R → Q in GSD4 and APBN. 3 Publications
VAR_022434

Keywords - Diseasei

Disease mutation, Glycogen storage disease, Neuropathy

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

BgeeiQ04446.
CleanExiHS_GBE1.
ExpressionAtlasiQ04446. baseline and differential.
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 – 6218Combined sources
Helixi66 – 694Combined sources
Helixi70 – 745Combined sources
Beta strandi76 – 805Combined sources
Beta strandi86 – 916Combined sources
Beta strandi96 – 1027Combined sources
Helixi103 – 1053Combined sources
Beta strandi109 – 1135Combined sources
Beta strandi121 – 1266Combined sources
Beta strandi141 – 1477Combined sources
Beta strandi153 – 1564Combined sources
Beta strandi174 – 1763Combined sources
Beta strandi195 – 20410Combined sources
Beta strandi207 – 2126Combined sources
Helixi216 – 2227Combined sources
Helixi224 – 2307Combined sources
Beta strandi234 – 2396Combined sources
Helixi246 – 2483Combined sources
Beta strandi254 – 2596Combined sources
Helixi261 – 2633Combined sources
Helixi266 – 27813Combined sources
Beta strandi282 – 2887Combined sources
Beta strandi296 – 3005Combined sources
Turni301 – 3044Combined sources
Beta strandi305 – 3073Combined sources
Beta strandi309 – 3113Combined sources
Helixi315 – 3173Combined sources
Turni320 – 3234Combined sources
Helixi332 – 34716Combined sources
Beta strandi353 – 3575Combined sources
Helixi359 – 3635Combined sources
Helixi387 – 40317Combined sources
Beta strandi408 – 4114Combined sources
Turni418 – 4214Combined sources
Helixi424 – 4263Combined sources
Beta strandi432 – 4354Combined sources
Helixi438 – 44912Combined sources
Helixi452 – 4543Combined sources
Helixi457 – 4659Combined sources
Beta strandi473 – 4753Combined sources
Helixi481 – 4833Combined sources
Helixi490 – 4956Combined sources
Helixi496 – 5005Combined sources
Helixi511 – 53020Combined sources
Beta strandi533 – 5386Combined sources
Helixi541 – 5433Combined sources
Helixi554 – 5563Combined sources
Helixi567 – 5704Combined sources
Helixi577 – 59418Combined sources
Beta strandi597 – 5993Combined sources
Beta strandi603 – 6086Combined sources
Turni609 – 6124Combined sources
Beta strandi613 – 6186Combined sources
Beta strandi621 – 6266Combined sources
Beta strandi633 – 64210Combined sources
Beta strandi644 – 6518Combined sources
Helixi655 – 6573Combined sources
Beta strandi669 – 6735Combined sources
Beta strandi679 – 6879Combined sources
Beta strandi691 – 6988Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00390000017040.
HOVERGENiHBG051734.
InParanoidiQ04446.
KOiK00700.
OMAiDATEVWV.
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

« Hide

        10         20         30         40         50
MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK
60 70 80 90 100
QFSQILKNIG ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL
110 120 130 140 150
TGDFNGWNPF SYPYKKLDYG KWELYIPPKQ NKSVLVPHGS KLKVVITSKS
160 170 180 190 200
GEILYRISPW AKYVVREGDN VNYDWIHWDP EHSYEFKHSR PKKPRSLRIY
210 220 230 240 250
ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI MEHAYYASFG
260 270 280 290 300
YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL
310 320 330 340 350
NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR
360 370 380 390 400
FDGFRFDGVT SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV
410 420 430 440 450
HTLCPDSITI AEDVSGMPAL CSPISQGGGG FDYRLAMAIP DKWIQLLKEF
460 470 480 490 500
KDEDWNMGDI VYTLTNRRYL EKCIAYAESH DQALVGDKSL AFWLMDAEMY
510 520 530 540 550
TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG NEFGHPEWLD
560 570 580 590 600
FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP
610 620 630 640 650
QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL
660 670 680 690 700
DSDAAEYGGH QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL

PN
Length:702
Mass (Da):80,474
Last modified:November 15, 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 APBN. 1 Publication
VAR_022433
Natural varianti524 – 5241R → Q in GSD4 and APBN. 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

Protein family/group databases

CAZyiCBM48. Carbohydrate-Binding Module Family 48.
GH13. Glycoside Hydrolase Family 13.

PTM databases

PhosphoSiteiQ04446.

Polymorphism databases

DMDMi357529509.

Proteomic databases

MaxQBiQ04446.
PaxDbiQ04446.
PRIDEiQ04446.

Protocols and materials databases

DNASUi2632.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000429644; ENSP00000410833; ENSG00000114480.
GeneIDi2632.
KEGGihsa:2632.

Organism-specific databases

CTDi2632.
GeneCardsiGC03M081621.
GeneReviewsiGBE1.
HGNCiHGNC:4180. GBE1.
HPAiHPA038073.
HPA038074.
HPA038075.
MIMi232500. phenotype.
263570. phenotype.
607839. gene.
neXtProtiNX_Q04446.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0296.
GeneTreeiENSGT00390000017040.
HOVERGENiHBG051734.
InParanoidiQ04446.
KOiK00700.
OMAiDATEVWV.
TreeFamiTF300783.

Enzyme and pathway databases

UniPathwayiUPA00164.
BioCyciMetaCyc:HS03772-MONOMER.
ReactomeiREACT_169208. Glycogen synthesis.

Miscellaneous databases

ChiTaRSiGBE1. human.
GeneWikiiGBE1.
GenomeRNAii2632.
NextBioi10376.
PROiQ04446.
SOURCEiSearch...

Gene expression databases

BgeeiQ04446.
CleanExiHS_GBE1.
ExpressionAtlasiQ04446. baseline and differential.
GenevestigatoriQ04446.

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.
ProtoNetiSearch...

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(1992) [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(2003) [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(2005) [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(2003) [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(2004) [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(2011) [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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. "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(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GSD4 PRO-224; LEU-257; SER-329 AND CYS-515.
  10. "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(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD4 GLN-524.
  11. "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(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APBN HIS-515 AND GLN-524.
  12. 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: May 31, 1994
Last sequence update: November 15, 2011
Last modified: March 31, 2015
This is version 151 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.