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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:GYG1

Protein Summary

check button Gene summary
Gene name: GYG1
ASpdb.0 ID: 2992
Gene
Gene symbol

GYG1

Gene ID

2992

Gene nameglycogenin 1
SynonymsGSD15|GYG
Cytomap

3q24

Type of geneprotein-coding
Descriptionglycogenin-1GN-1glycogenin glucosyltransferase
Modification date20240403
UniProtAcc

P46976


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneGYG1

GO:0008466

glycogenin glucosyltransferase activity

22160680|30356213

GeneGYG1

GO:0030145

manganese ion binding

22160680|30356213

GeneGYG1

GO:0042803

protein homodimerization activity

22160680|30356213

GeneGYG1

GO:0102751

UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity

22160680|30356213



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
P46976-1P46976-1_3u2u_A.pdb3U2UX-ray1.45A1262

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
P46976GYG1P46976-1P46976-2350333277293Deletionnonenone276276
P46976GYG1P46976-1P46976-3350279204350SubstitutionFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQKMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHIHFTSLVSDT204279

check buttonMultiple sequence alignment of our canonical and alternatively spliced GYG1

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of GYG1
UniProt-idENSGENSTENSP
P46976-1ENSG00000163754.18ENST00000345003.9ENSP00000340736.4
P46976-2ENSG00000163754.18ENST00000296048.10ENSP00000296048.6
P46976-3ENSG00000163754.18ENST00000484197.5ENSP00000420683.1

UniProt-idNM IDNP ID
P46976-1NM_004130.3NP_004121.2
P46976-2NM_001184720.1NP_001171649.1
P46976-3NM_001184721.1NP_001171650.1

check buttonAmino acid sequences of our canonical and alternatively spliced GYG1
accession_idProtein sequence
P46976-1MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCW
SLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIR
KHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDT
P46976-2MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCW
SLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIR
KHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTNVLPLLQQFGLVKDT
P46976-3MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPELGVTLTKLHCW
SLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIR
KHLPFIYNLSSISIYSYLPAFKVKMSQEPYHICPLGRSQLWHSRLYPRKNGRNDGNRARLIIWEQIPLTTSRGNLTLTSSRNTAFFCEHI

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
GYG1 (go to UniProt):P46976

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
P46976Region301333Note=Interaction with GYS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17055998;Dbxref=PMID:17055998Type=Substitution;Start=204;End=350


Gene Isoform Structures and Expression Levels for GYG1

check buttonGene structures of our canonical and alternative spliced genes of GYG1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of GYG1

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of P46976-1
3D view using mol* of P46976-2
3D view using mol* of P46976-3


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of P46976-1
all structure
pLDDT distribution across the protein length of P46976-2
all structure
pLDDT distribution across the protein length of P46976-3
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of P46976-1
all structure
Ramachandran plot of P46976-2
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
P46976-11.0323731.0681051.6380.5910.7080.8770.7350.9110.8070.7029,10,11,12,14,15,40,42,63,74,75,76,77,78,79,80,82,
83,86,100,102,103,104,124,125,126,127,128,129,131,
133,134,135,159,160,162,163,164,165,168,185,186,18
9,191,192,193,194,195,196,197,200,201,204,205,212,
213,214,215,216,217,218,220,221,222,223,232,233,23
4,235,236,237,238,239,323,324,326,327,328,329,332

P46976-21.0851411.07354.3190.4450.8251.0630.8371.1210.7470.8929,10,11,12,15,75,77,79,80,82,83,86,102,103,104,125
,126,128,131,133,134,135,159,160,162,163,164,165,1
92,212,214,215,218
P46976-31.107641.13495.6970.4070.9381.2093.2060.5545.7850.641108,189,194,195,201,205,209,210,213,214,238,239,24
0,241,264,265,266,267,270

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of P46976-1_P46976-1_3u2u_A.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P46976-1_3u2u_A_P46976-2.pdb
3D view using mol* of P46976-1_3u2u_A_P46976-3.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of P46976-1_P46976-2.pdb
3D view using mol* of P46976-1_P46976-3.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/P46976-1_vs_P46976-2.png
all structure<
./stats/secondary_structure/figure/P46976-1_vs_P46976-3.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/P46976-1_vs_P46976-2.png
all structure<
./stats/relative_asa/P46976-1_vs_P46976-3.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
P46976Region301333Note=Interaction with GYS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17055998;Dbxref=PMID:17055998Type=Substitution;Start=204;End=350


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to GYG1


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
P46976GYG1DB01861Uridine diphosphate glucoseexperimental
P46976GYG1DB03435Uridine-5'-Diphosphateexperimental

Related Diseases to GYG1


check button Previous studies relating to the alternative splicing of GYG1 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in GYG1


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance