O15488 (GLYG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 116.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Glycogenin-2 Short name=GN-2 Short name=GN2 EC=2.4.1.186 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 501 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. |
| Catalytic activity | UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin. |
| Cofactor | Divalent metal ions. Required for self-glucosylation. Manganese is the most effective. |
| Pathway | |
| Subunit structure | Homodimer, tightly complexed to glycogen synthase. |
| Tissue specificity | Expressed preferentially in liver, heart, and pancreas. |
| Post-translational modification | Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228. Ref.5 |
| Sequence similarities | Belongs to the glycogenin family. |
| Mass spectrometry | Molecular mass is 55211.89 Da from positions 1 - 501. Determined by MALDI. Ref.6 |
Ontologies
| Keywords | |
|---|---|
| Biological process | Glycogen biosynthesis |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Transferase |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | glucose metabolic process Traceable author statement. Source: Reactome glycogen biosynthetic processTraceable author statement. Source: Reactome glycogen catabolic processTraceable author statement. Source: Reactome |
| Cellular component | cytosol Traceable author statement. Source: Reactome soluble fractionTraceable author statement. Source: ProtInc |
| Molecular function | glycogenin glucosyltransferase activity Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform Alpha (identifier: O15488-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Beta (identifier: O15488-2) The sequence of this isoform differs from the canonical sequence as follows: 3-33: Missing. | ||||||
| Isoform Gamma (identifier: O15488-3) The sequence of this isoform differs from the canonical sequence as follows: 3-42: Missing. | ||||||
| Isoform Delta (identifier: O15488-4) The sequence of this isoform differs from the canonical sequence as follows: 378-448: Missing. | ||||||
| Isoform Epsilon (identifier: O15488-5) The sequence of this isoform differs from the canonical sequence as follows: 407-501: Missing. | ||||||
| Isoform Zeta (identifier: O15488-6) The sequence of this isoform differs from the canonical sequence as follows: 413-448: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 501 | 501 | Glycogenin-2 | PRO_0000215180 | |||||
Sites | |||||||||
| Active site | 119 | 1 | By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 228 | 1 | O-linked (Glc...) Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 3 – 42 | 40 | Missing in isoform Gamma. | VSP_001771 | |||||
| Alternative sequence | 3 – 33 | 31 | Missing in isoform Beta. | VSP_001770 | |||||
| Alternative sequence | 378 – 448 | 71 | Missing in isoform Delta. | VSP_001772 | |||||
| Alternative sequence | 407 – 501 | 95 | Missing in isoform Epsilon. | VSP_001773 | |||||
| Alternative sequence | 413 – 448 | 36 | Missing in isoform Zeta. | VSP_001774 | |||||
| Natural variant | 7 | 1 | H → Y. Corresponds to variant rs11797037 [ dbSNP | Ensembl ]. | VAR_053110 | |||||
| Natural variant | 194 | 1 | G → R Found in a renal cell carcinoma case; somatic mutation. Ref.7 | VAR_064717 | |||||
| Natural variant | 270 | 1 | A → V. Corresponds to variant rs2306734 [ dbSNP | Ensembl ]. | VAR_010401 | |||||
| Natural variant | 313 | 1 | H → R. Ref.4 Corresponds to variant rs2306735 [ dbSNP | Ensembl ]. | VAR_024457 | |||||
| Natural variant | 373 | 1 | R → C. Corresponds to variant rs17330993 [ dbSNP | Ensembl ]. | VAR_031224 | |||||
Experimental info | |||||||||
| Mutagenesis | 228 | 1 | Y → F: Loss of activity. | ||||||
| Mutagenesis | 230 | 1 | Y → F: No loss of activity. | ||||||
| Sequence conflict | 413 | 1 | Missing in AAB84378. Ref.1 | ||||||
| Sequence conflict | 462 – 464 | 3 | EKV → AGI in AAB84376. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis." Mu J., Skurat A.V., Roach P.J. J. Biol. Chem. 272:27589-27597(1997) [PubMed: 9346895] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Liver. |
| [2] | "Structure and chromosomal localization of the human glycogenin-2 gene GYG2." Zhai L., Mu J., Zong H., DePaoli-Roach A.A., Roach P.J. Gene 242:229-235(2000) [PubMed: 10721716] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BETA), VARIANT ARG-313. Tissue: Skin. |
| [5] | "Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism." Mu J., Roach P.J. J. Biol. Chem. 273:34850-34856(1998) [PubMed: 9857012] [Abstract] Cited for: CHARACTERIZATION, GLYCOSYLATION AT TYR-228. |
| [6] | "Cluster analysis of an extensive human breast cancer cell line protein expression map database." Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J. Proteomics 2:212-223(2002) [PubMed: 11840567] [Abstract] Cited for: MASS SPECTROMETRY. Tissue: Mammary cancer. |
| [7] | "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. Futreal P.A.Nature 469:539-542(2011) [PubMed: 21248752] [Abstract] Cited for: VARIANT ARG-194. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U94362 mRNA. Translation: AAB84377.1. U94363 mRNA. Translation: AAB84378.1. U94364 mRNA. Translation: AAB84379.1. U94357 mRNA. Translation: AAB84373.1. U94358 mRNA. Translation: AAB84374.1. U94360 mRNA. Translation: AAB84375.1. U94361 mRNA. Translation: AAB84376.1. AF179624 AF179623 Genomic DNA. Translation: AAF61855.1.AC138085 Genomic DNA. No translation available. BC023152 mRNA. Translation: AAH23152.1. |
| IPI | IPI00006742. IPI00218983. IPI00218984. IPI00218985. IPI00218986. IPI00292838. |
| RefSeq | NP_001073324.1. NM_001079855.1. NP_001171631.1. NM_001184702.1. NP_001171632.1. NM_001184703.1. NP_001171633.1. NM_001184704.1. NP_003909.2. NM_003918.2. |
| UniGene | Hs.567381. |
3D structure databases | |
| ProteinModelPortal | O15488. |
| SMR | O15488. Positions 33-296. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O15488. 2 interactions. |
| MINT | MINT-5003813. |
| STRING | O15488. |
Protein family/group databases | |
| CAZy | GT8. Glycosyltransferase Family 8. |
Proteomic databases | |
| PRIDE | O15488. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000381157; ENSP00000370549; ENSG00000056998. ENST00000381163; ENSP00000370555; ENSG00000056998. |
| GeneID | 8908. |
| KEGG | hsa:8908. |
| UCSC | uc004cqs.1. human. uc004cqt.1. human. uc004cqw.1. human. |
Organism-specific databases | |
| CTD | 8908. |
| GeneCards | GC0XP002740. |
| H-InvDB | HIX0016632. |
| HGNC | HGNC:4700. GYG2. |
| HPA | HPA005495. |
| MIM | 300198. gene. |
| neXtProt | NX_O15488. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08112. |
| GeneTree | ENSGT00390000004721. |
| HOGENOM | HBG445032. |
| HOVERGEN | HBG000681. |
| OMA | VSQISIE. |
| OrthoDB | EOG4PC9S0. |
| PhylomeDB | O15488. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:MONOMER-11753. |
| Reactome | REACT_474. Metabolism of carbohydrates. |
Gene expression databases | |
| ArrayExpress | O15488. |
| Bgee | O15488. |
| CleanEx | HS_GYG2. |
| Genevestigator | O15488. |
| GermOnline | ENSG00000056998. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002495. Glyco_trans_8. [Graphical view] |
| KO | K00750. |
| Pfam | PF01501. Glyco_transf_8. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 33471. |
| SOURCE | Search... |
Entry information
| Entry name | GLYG2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O15488 Secondary accession number(s): B7WNN6 O15490 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with