P46976 (GLYG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycogenin-1
Short name=GN-1
Short name=GN1
EC=2.4.1.186

Gene names

Name:	GYG1
Synonyms:	GYG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	350 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
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	Glycan biosynthesis; glycogen biosynthesis.
Subunit structure	Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1.
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-195. Phosphorylated By similarity.
Involvement in disease	Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
Sequence similarities	Belongs to the glycosyltransferase 8 family. Glycogenin subfamily.
Sequence caution	The sequence CAA56073.1 differs from that shown. Reason: Frameshift at position 204.

Ontologies

Keywords
Biological process	Glycogen biosynthesis
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Glycogen storage disease
Ligand	Manganese Metal-binding
Molecular function	Transferase
PTM	Acetylation Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glucose metabolic process Traceable author statement. Source: Reactome glycogen biosynthetic process Traceable author statement. Source: Reactome glycogen catabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	glucose binding Inferred from electronic annotation. Source: Compara glycogenin glucosyltransferase activity Inferred from electronic annotation. Source: EC metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GYS1	P13807	4	EBI-740533,EBI-740553

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform GN-1L (identifier: P46976-1)

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 GN-1 (identifier: P46976-2)

The sequence of this isoform differs from the canonical sequence as follows:
     277-293: Missing.

Isoform GN-1S (identifier: P46976-3)

The sequence of this isoform differs from the canonical sequence as follows:
     204-293: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed By similarity

Chain

2 – 350

349

Glycogenin-1

PRO_0000215176

Regions

Region

301 – 333

33

Interaction with GYS1

Sites

Active site

86

1

By similarity

Metal binding

102

1

Manganese By similarity

Metal binding

104

1

Manganese By similarity

Metal binding

212

1

Manganese By similarity

Site

160

1

Important for catalytic activity By similarity

Site

163

1

Important for catalytic activity By similarity

Amino acid modifications

Modified residue

2

1

N-acetylthreonine By similarity

Modified residue

44

1

Phosphoserine By similarity

Glycosylation

195

1

O-linked (Glc...) By similarity

Natural variations

Alternative sequence

204 – 293

90

Missing in isoform GN-1S.

VSP_001768

Alternative sequence

277 – 293

17

Missing in isoform GN-1.

VSP_001769

Natural variant

83

1

T → M in GSD15; inactivation of the autoglucosylation. Ref.12

VAR_063768

Secondary structure

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350

Helix Strand Turn

Details...

Beta strand

4 – 12

9

Helix

13 – 28

16

Beta strand

33 – 39

7

Helix

45 – 54

10

Beta strand

55 – 60

6

Helix

69 – 74

6

Helix

80 – 91

12

Beta strand

96 – 101

6

Beta strand

105 – 107

3

Helix

112 – 116

5

Beta strand

119 – 124

6

Beta strand

126 – 128

3

Beta strand

131 – 139

9

Helix

143 – 156

14

Beta strand

159 – 161

3

Helix

163 – 170

8

Turn

171 – 176

6

Helix

179 – 181

3

Helix

185 – 187

3

Beta strand

188 – 190

3

Helix

191 – 195

5

Helix

198 – 204

7

Helix

205 – 207

3

Beta strand

209 – 212

4

Beta strand

215 – 217

3

Helix

219 – 221

3

Beta strand

222 – 225

4

Turn

226 – 229

4

Beta strand

230 – 232

3

Helix

238 – 240

3

Helix

244 – 256

13

Helix

258 – 261

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform GN-1L [UniParc]. Last modified January 23, 2007. Version 4. Checksum: ABAEEB7160DEC4DF	FASTA	350	39,384
	10 20 30 40 50 60 MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM 70 80 90 100 110 120 VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL 130 140 150 160 170 180 SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR 190 200 210 220 230 240 KHLPFIYNLS SISIYSYLPA FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM 250 260 270 280 290 300 THPEFLILWW NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI 310 320 330 340 350 SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ
	Isoform GN-1 [UniParc]. Checksum: CD5E3C16F849FF7C	FASTA	333	37,479
	10 20 30 40 50 60 MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM 70 80 90 100 110 120 VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL 130 140 150 160 170 180 SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR 190 200 210 220 230 240 KHLPFIYNLS SISIYSYLPA FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM 250 260 270 280 290 300 THPEFLILWW NIFTTNVLPL LQQFGLVKDT CSYVNVEDVS GAISHLSLGE IPAMAQPFVS 310 320 330 SEERKERWEQ GQADYMGADS FDNIKRKLDT YLQ
	Isoform GN-1S [UniParc]. Checksum: 4E538FD11A6CA066	FASTA	260	29,057
	10 20 30 40 50 60 MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM 70 80 90 100 110 120 VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL 130 140 150 160 170 180 SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR 190 200 210 220 230 240 KHLPFIYNLS SISIYSYLPA FKVEDVSGAI SHLSLGEIPA MAQPFVSSEE RKERWEQGQA 250 260 DYMGADSFDN IKRKLDTYLQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization." Barbetti F., Rocchi M., Bossolasco M., Cordera R., Sbraccia P., Finelli P., Consalez G.G. Biochem. Biophys. Res. Commun. 220:72-77(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GN-1). Tissue: Skeletal muscle.
[2]	"The human intron-containing gene for glycogenin maps to chromosome 3, band q24." Lomako J., Mazuruk K., Lomako W.M., Alonso M.D., Whelan W.J., Rodriguez I.R. Genomics 33:519-522(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GN-1).
[3]	Leffers H., Wiemann S., Ansorge W. Submitted (JUN-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORM GN-1S). Tissue: Skin.
[4]	"Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain." van Maanen M.-H., Fournier P.A., Palmer T.N., Abraham L.J. Gene 234:217-226(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM GN-1).
[5]	"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 (ISOFORM GN-1L), ALTERNATIVE SPLICING.
[6]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GN-1).
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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 GN-1). Tissue: Placenta.
[9]	"Interaction between glycogenin and glycogen synthase." Skurat A.V., Dietrich A.D., Roach P.J. Arch. Biochem. Biophys. 456:93-97(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GYS1.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"Crystal structure of human glycogenin-1 (GYG1), apo form." Structural genomics consortium (SGC) Submitted (FEB-2011) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (1.98 ANGSTROMS) OF 1-262.
[12]	"Glycogenin-1 deficiency and inactivated priming of glycogen synthesis." Moslemi A.R., Lindberg C., Nilsson J., Tajsharghi H., Andersson B., Oldfors A. N. Engl. J. Med. 362:1203-1210(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GSD15 MET-83, CHARACTERIZATION OF VARIANT GSD15 MET-83.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U44131 mRNA. Translation: AAB00114.1.
U31525 mRNA. Translation: AAB09752.1.
X79537 mRNA. Translation: CAA56073.1. Frameshift.
AF065481 , AF065476, AF065477, AF065478, AF065479, AF065480 Genomic DNA. Translation: AAD31084.1.
AF087942 mRNA. Translation: AAD52093.1.
CR536547 mRNA. Translation: CAG38784.1.
CH471052 Genomic DNA. Translation: EAW78894.1.
CH471052 Genomic DNA. Translation: EAW78895.1.
CH471052 Genomic DNA. Translation: EAW78898.1.
CH471052 Genomic DNA. Translation: EAW78900.1.
BC000033 mRNA. Translation: AAH00033.1.

IPI

IPI00180386.
IPI00556308.
IPI00794444.

PIR

JC4695.

RefSeq

NP_001171649.1. NM_001184720.1.
NP_001171650.1. NM_001184721.1.
NP_004121.2. NM_004130.3.

UniGene

Hs.477892.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3Q4S	X-ray	1.98	A	1-262	[»]
3QVB	X-ray	2.26	A	1-262	[»]
3RMV	X-ray	1.82	A	1-262	[»]
3RMW	X-ray	1.93	A	1-262	[»]
3T7M	X-ray	1.80	A/B	1-262	[»]
3T7N	X-ray	1.98	A/B	1-262	[»]
3T7O	X-ray	1.85	A/B	1-262	[»]
3U2T	X-ray	2.05	A	1-262	[»]
3U2U	X-ray	1.45	A/B	1-262	[»]
3U2V	X-ray	1.50	A/B	1-262	[»]
3U2W	X-ray	1.68	A/B	1-262	[»]
3U2X	X-ray	1.77	A/B	1-262	[»]

ProteinModelPortal

P46976.

ModBase

Search...

Protein-protein interaction databases

IntAct

P46976. 13 interactions.

STRING

9606.ENSP00000340736.

Protein family/group databases

CAZy

GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSite

P46976.

Polymorphism databases

DMDM

13432151.

Proteomic databases

PaxDb

P46976.

PRIDE

P46976.

Protocols and materials databases

DNASU

2992.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000296048; ENSP00000296048; ENSG00000163754.
ENST00000345003; ENSP00000340736; ENSG00000163754.

GeneID

2992.

KEGG

hsa:2992.

UCSC

uc003ewn.3. human.
uc003ewo.3. human.

Organism-specific databases

CTD

2992.

GeneCards

GC03P148709.

HGNC

HGNC:4699. GYG1.

HPA

HPA030497.

MIM

603942. gene.
613507. phenotype.

neXtProt

NX_P46976.

Orphanet

263297. Glycogen storage disease type 15.

PharmGKB

PA29077.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5597.

HOGENOM

HOG000008282.

HOVERGEN

HBG000681.

InParanoid

P46976.

KO

K00750.

OMA

LQQFGLV.

OrthoDB

EOG4PC9S0.

PhylomeDB

P46976.

Enzyme and pathway databases

BioCyc

MetaCyc:HS08931-MONOMER.

Reactome

REACT_111217. Metabolism.

UniPathway

UPA00164.

Gene expression databases

ArrayExpress

P46976.

Bgee

P46976.

CleanEx

HS_GYG1.

Genevestigator

P46976.

GermOnline

ENSG00000163754. Homo sapiens.

Family and domain databases

InterPro

IPR002495. Glyco_trans_8.
[Graphical view]

Pfam

PF01501. Glyco_transf_8. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P46976.

GenomeRNAi

2992.

NextBio

11858.

SOURCE

Search...

Entry information

Entry name

GLYG_HUMAN

Accession

Primary (citable) accession number: P46976
Secondary accession number(s): D3DNH1 , D3DNH2, Q6FHZ1, Q9UNV0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 125 of the entry and version 4 of the sequence. [Complete history]

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.