Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  1,4-alpha-glucan-branching enzyme  

UniProtKB / Swiss-Prot ID :  GLGB_HUMAN

Gene Name (Synonyms) : 
GBE1  

Species :  Homo sapiens (Human). 

Subcellular Localization :   

Protein Function :  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. 

Protein Sequence MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFS...
Predicted Secondary Structure CCCCCCHHHCCCCCCCEEEEEECCCCCCCEEEEEEECCCCCHHHHHHHHHHCCHHHHHHHHHHCCCCCHH...
Protein Variant
LocationDescription
190R -> G (in dbSNP:rs2229519). VAR_022109
224L -> P (in GSD4; loss of activity). VAR_022429
257F -> L (in GSD4; loss of activity). VAR_022430
265T -> S (in dbSNP:rs17856389). VAR_034747
329Y -> S (in GSD4; non-progressive form;50% residual activity).
334I -> V (in dbSNP:rs2172397). VAR_034748
507T -> A (in dbSNP:rs2228389). VAR_034749
515R -> C (in GSD4; loss of activity). VAR_022432
515R -> H (in APBD). VAR_022433
524R -> Q (in GSD4 and APBD). VAR_022434
545H -> R (in GSD4). VAR_022435
628H -> R (in GSD4; childhood neuromuscularform; 15 to 25% residual activity).
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
39Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)DPYLKPYAV
EECCCCCHH
30.09Phosphositeplus
Link-
41PhosphotyrosineYLKPYAVDF
CCCCCHHHH
20.05Phosphositeplus
Link-
68Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)GGIDKFSRG
CCCCCHHHH
43.23Phosphositeplus
Link
68N6-acetyllysineGGIDKFSRG
CCCCCHHHH
43.23HPRD
Link
68N6-acetyllysineGGIDKFSRG
CCCCCHHHH
43.23Phosphositeplus
Link
68N6-acetyllysine.GGIDKFSRG
CCCCCHHHH
43.23UniProtKB
Link
73PhosphotyrosineFSRGYESFG
HHHHHHHCC
13.80Phosphositeplus
Link
149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)VITSKSGEI
EEECCCCCE
54.55Phosphositeplus
Link
162Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)SPWAKYVVR
CCCCEEEEE
34.41Phosphositeplus
Link
173PhosphotyrosineDNVNYDWIH
CCEEEECCC
14.36HPRD
Link
173PhosphotyrosineDNVNYDWIH
CCEEEECCC
14.36PhosphoELM
Link
173PhosphotyrosineDNVNYDWIH
CCEEEECCC
14.36Phosphositeplus
Link
173Phosphotyrosine.DNVNYDWIH
CCEEEECCC
14.36UniProtKB
Link
212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)SHEGKVASY
CCCCCCCCH
31.48Phosphositeplus
Link
442Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)AIPDKWIQL
CCHHHHHHH
40.62Phosphositeplus
Link
554Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)DFPRKGNNE
CCCCCCCCC
67.25Phosphositeplus
Link
578Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)LLRYKFLNN
HHHHHHHHH
36.62Phosphositeplus
Link
657PhosphotyrosineDAAEYGGHQ
CCHHCCCCC
24.55Phosphositeplus
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
6PGD_HUMANyeast 2-hybridHPRD:01985HPRD16169070
PYGM_HUMANENSP00000264326STRING
PYGL_HUMANENSP00000264326STRING
PYGB_HUMANENSP00000264326STRING
GYS2_HUMANENSP00000264326STRING
AMYP_HUMANENSP00000264326STRING
GDE_HUMANENSP00000264326STRING
GYS1_HUMANENSP00000264326STRING
GLYG_HUMANENSP00000264326STRING
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Disease Reference
Kegg disease
OMIM disease
232500Glycogen storage disease 4 (GSD4)
Note=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.
263570
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
Acetylation
ReferencePubMed
"Lysine acetylation targets protein complexes and co-regulates majorcellular functions.";
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.,Olsen J.V., Mann M.;
Science 325:834-840(2009).
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-68, AND MASS SPECTROMETRY.
Phosphorylation
ReferencePubMed
"Immunoaffinity profiling of tyrosine phosphorylation in cancercells.";
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).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-173, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures