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O15488 (GLYG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycogenin-2

Short name=GN-2
Short name=GN2
EC=2.4.1.186
Gene names
Name:GYG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length501 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Glycan biosynthesis; glycogen biosynthesis.

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 glycosyltransferase 8 family. Glycogenin subfamily.

Mass spectrometry

Molecular mass is 55211.89 Da from positions 1 - 501. Determined by MALDI. Ref.6

Ontologies

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 501501Glycogenin-2
PRO_0000215180

Sites

Active site1191 By similarity

Amino acid modifications

Glycosylation2281O-linked (Glc...) Ref.5

Natural variations

Alternative sequence3 – 4240Missing in isoform Gamma.
VSP_001771
Alternative sequence3 – 3331Missing in isoform Beta.
VSP_001770
Alternative sequence378 – 44871Missing in isoform Delta.
VSP_001772
Alternative sequence407 – 50195Missing in isoform Epsilon.
VSP_001773
Alternative sequence413 – 44836Missing in isoform Zeta.
VSP_001774
Natural variant71H → Y.
Corresponds to variant rs11797037 [ dbSNP | Ensembl ].
VAR_053110
Natural variant1941G → R Found in a renal cell carcinoma case; somatic mutation. Ref.7
VAR_064717
Natural variant2701A → V.
Corresponds to variant rs2306734 [ dbSNP | Ensembl ].
VAR_010401
Natural variant3131H → R. Ref.4
Corresponds to variant rs2306735 [ dbSNP | Ensembl ].
VAR_024457
Natural variant3731R → C.
Corresponds to variant rs17330993 [ dbSNP | Ensembl ].
VAR_031224

Experimental info

Mutagenesis2281Y → F: Loss of activity.
Mutagenesis2301Y → F: No loss of activity.
Sequence conflict4131Missing in AAB84378. Ref.1
Sequence conflict462 – 4643EKV → AGI in AAB84376. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform Alpha [UniParc].

Last modified March 20, 2007. Version 2.
Checksum: 8488A09D6E564693

FASTA50155,184
        10         20         30         40         50         60 
MSETEFHHGA QAGLELLRSS NSPTSASQSA GMTVTDQAFV TLATNDIYCQ GALVLGQSLR 

        70         80         90        100        110        120 
RHRLTRKLVV LITPQVSSLL RVILSKVFDE VIEVNLIDSA DYIHLAFLKR PELGLTLTKL 

       130        140        150        160        170        180 
HCWTLTHYSK CVFLDADTLV LSNVDELFDR GEFSAAPDPG WPDCFNSGVF VFQPSLHTHK 

       190        200        210        220        230        240 
LLLQHAMEHG SFDGADQGLL NSFFRNWSTT DIHKHLPFIY NLSSNTMYTY SPAFKQFGSS 

       250        260        270        280        290        300 
AKVVHFLGSM KPWNYKYNPQ SGSVLEQGSA SSSQHQAAFL HLWWTVYQNN VLPLYKSVQA 

       310        320        330        340        350        360 
GEARASPGHT LCHSDVGGPC ADSASGVGEP CENSTPSAGV PCANSPLGSN QPAQGLPEPT 

       370        380        390        400        410        420 
QIVDETLSLP EGRRSEDMIA CPETETPAVI TCDPLSQPSP QPADFTETET ILQPANKVES 

       430        440        450        460        470        480 
VSSEETFEPS QELPAEALRD PSLQDALEVD LAVSVSQISI EEKVKELSPE EERRKWEEGR 

       490        500 
IDYMGKDAFA RIQEKLDRFL Q 

« Hide

Isoform Beta [UniParc].

Checksum: B846651872D5D26E
Show »

FASTA47051,999
Isoform Gamma [UniParc].

Checksum: A04519016F2221BB
Show »

FASTA46151,024
Isoform Delta [UniParc].

Checksum: 940F41982ACB1650
Show »

FASTA43047,530
Isoform Epsilon [UniParc].

Checksum: 6370F23C7DC32423
Show »

FASTA40644,295
Isoform Zeta [UniParc].

Checksum: AB2B130A1FD5EA73
Show »

FASTA46551,260

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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(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(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.
Nature 469:539-542(2011) [PubMed] [Europe PMC] [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 expand/collapse EMBL AC list , AF179615, AF179616, AF179617, AF179618, AF179619, AF179620, AF179621, AF179622, AF179623 Genomic DNA. Translation: AAF61855.1.
AC138085 Genomic DNA. No translation available.
BC023152 mRNA. Translation: AAH23152.1.
CCDSCCDS14121.1. [O15488-1]
CCDS48074.1. [O15488-2]
CCDS55365.1. [O15488-4]
RefSeqNP_001073324.1. NM_001079855.1. [O15488-2]
NP_001171631.1. NM_001184702.1.
NP_001171632.1. NM_001184703.1. [O15488-4]
NP_001171633.1. NM_001184704.1.
NP_003909.2. NM_003918.2. [O15488-1]
UniGeneHs.567381.
Hs.701629.

3D structure databases

ProteinModelPortalO15488.
SMRO15488. Positions 33-296.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114422. 6 interactions.
IntActO15488. 3 interactions.
MINTMINT-5003813.
STRING9606.ENSP00000370555.

Protein family/group databases

CAZyGT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSiteO15488.

Proteomic databases

MaxQBO15488.
PaxDbO15488.
PRIDEO15488.

Protocols and materials databases

DNASU8908.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338623; ENSP00000341273; ENSG00000056998. [O15488-6]
ENST00000381163; ENSP00000370555; ENSG00000056998. [O15488-1]
ENST00000398806; ENSP00000381786; ENSG00000056998. [O15488-2]
ENST00000542787; ENSP00000446092; ENSG00000056998. [O15488-4]
GeneID8908.
KEGGhsa:8908.
UCSCuc004cqs.1. human. [O15488-1]
uc004cqt.1. human. [O15488-2]
uc004cqv.1. human. [O15488-4]
uc004cqw.1. human. [O15488-3]
uc010ndc.1. human. [O15488-6]

Organism-specific databases

CTD8908.
GeneCardsGC0XP002740.
H-InvDBHIX0016632.
HIX0025849.
HGNCHGNC:4700. GYG2.
HPAHPA005495.
MIM300198. gene.
neXtProtNX_O15488.
PharmGKBPA29078.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5597.
HOGENOMHOG000008282.
HOVERGENHBG000681.
KOK00750.
OMANTAYTYS.
OrthoDBEOG7BKCV8.
PhylomeDBO15488.
TreeFamTF312839.

Enzyme and pathway databases

BioCycMetaCyc:HS00703-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00164.

Gene expression databases

ArrayExpressO15488.
BgeeO15488.
CleanExHS_GYG2.
GenevestigatorO15488.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi8908.
NextBio33471.
PROO15488.
SOURCESearch...

Entry information

Entry nameGLYG2_HUMAN
AccessionPrimary (citable) accession number: O15488
Secondary accession number(s): B7WNN6 expand/collapse secondary AC list , O15485, O15486, O15487, O15489, O15490
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: March 20, 2007
Last modified: July 9, 2014
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM