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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GYG1 Gene

protein-coding GIFtS: 57
GCID: GC03P148709

glycogenin 1

(Previous name: glycogenin )
(Previous symbol: GYG)

Explore 6 diseases affiliated with
GYG1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glycogenin 1¹ ²		Glycogenin¹
GYG¹ ² ³		Glycogenin Glucosyltransferase²
GN-1² ³		Glycogenin-1¹
EC 2.4.1.186³ ⁸		GN1³
GSD15² ⁵

External Ids:	HGNC: 4699¹	Entrez Gene: 2992²	Ensembl: ENSG00000163754⁷	OMIM: 603942⁵	UniProtKB: P46976³

Export aliases for GYG1 gene to outside databases

Previous GC identifers: GC03P150193 GC03P146081

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GYG1:

This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation

of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is

followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form

glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage

disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript

variants encoding different isoforms have been identified.(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976

Function: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate

for glycogen synthase

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GYG1 gene promoter:
AML1a Pax-5 NRSF form 1 MyoD Lmo2 LCR-F1 NRSF form 2 COMP1 MRF-2 TGIF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GYG1 promoter sequence

Search SABiosciences Chromatin IP Primers for GYG1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GYG1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q24-q25.1 Ensembl cytogenetic band: 3q24 HGNC cytogenetic band: 3q24-q25.1

GYG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GYG1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P148709: view genomic region (about GC identifiers)

Start:	148,709,128 bp from pter	End:	148,745,456 bp from pter
Size:	36,329 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976 (See protein sequence)

Recommended Name: Glycogenin-1

Size: 350 amino acids; 39384 Da

Cofactor: Divalent metal ions. Required for self-glucosylation. Manganese is the most effective

Subunit: Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1

Sequence caution: Sequence=CAA56073.1; Type=Frameshift; Positions=204;

6/12 PDB 3D structures from and Proteopedia for GYG1 (see all 12):

3Q4S (3D)

3QVB (3D)

3RMV (3D)

3RMW (3D)

3T7M (3D)

3T7N (3D)

Secondary accessions: D3DNH1 D3DNH2 Q6FHZ1 Q9UNV0

Alternative splicing: 3 isoforms: P46976-1 P46976-2 P46976-3

Explore the universe of human proteins at neXtProt for GYG1: NX_P46976

Post-translational modifications:

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-195¹

Phosphorylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P46976

4 DME Specific Peptides for GYG1 (P46976)

TLTKLHCW

TDQAFVTL

AKVVHFLG

SAAPDPGWPDCFNSGVFV

GYG1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001171649.1 NP_001171650.1 NP_004121.2

ENSEMBL proteins:

ENSP00000340736 ENSP00000296048 ENSP00000419499 ENSP00000420683 ENSP00000418297

ENSP00000420247 ENSP00000417671

Reactome Protein details: P46976
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	Uscn Proteins for GYG1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005829	cytosol	TAS	--

GYG1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for GYG1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GYG1 for domains About GeneDecksing

1 InterPro domain/family:

IPR002495 Glyco_trans_8

Graphical View of Domain Structure for InterPro Entry P46976

ProtoNet protein and cluster: P46976

1 Blocks protein family: IPB002495 Glycosyl transferase

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976

Similarity: Belongs to the glycosyltransferase 8 family. Glycogenin subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976

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

Enzyme Number (IUBMB): EC 2.4.1.186¹ ²

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GYG1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17055998
GO:0005536	glucose binding	IEA	--
GO:0008466	glycogenin glucosyltransferase activity	IEA	--
GO:0016757	transferase activity, transferring glycosyl groups	--	--
GO:0046872	metal ion binding	IEA	--

GYG1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycogen breakdown (glycogenolysis)

Glycogen breakdown (glycogenolysis)

1.00

Glycogen Metabolism

0.35

glycogen biosynthesis II (from UDP-D-Glucose)

glycogen biosynthesis II (from UDP-D-Glucose)

1.00

Glycogen synthesis

0.75

Glucose metabolism

Glucose metabolism

1.00

Insulin Signaling

Insulin Signaling

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for GYG1

	Glycogen Metabolism
	Insulin Signaling
	glycogen biosynthesis II (from UDP-D-Glucose)

5 Reactome Pathways for GYG1

	Metabolism of carbohydrates
	Glycogen breakdown (glycogenolysis)
	Metabolism
	Glucose metabolism
	Glycogen synthesis

UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976

Pathway: Glycan biosynthesis; glycogen biosynthesis

GYG1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GYG1

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/33 Interacting proteins for GYG1 (P46976^{1, 3} ENSP00000340736⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GYS1	P13807¹^,³, ENSP00000317904⁴	EBI-740533,EBI-2948518 I2D: score=5 STRING: ENSP00000317904
PRKAA2	P54646³, ENSP00000360290⁴	I2D: score=3 STRING: ENSP00000360290
PRKAB2	O43741³, ENSP00000254101⁴	I2D: score=3 STRING: ENSP00000254101
GYG2	O15488³, ENSP00000370555⁴	I2D: score=2 STRING: ENSP00000370555
TRIM7	Q9C029³, ENSP00000274773⁴	I2D: score=2 STRING: ENSP00000274773

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005978	glycogen biosynthetic process	TAS	--
GO:0005980	glycogen catabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

GYG1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GYG1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GYG1

3 HMDB Compounds for GYG1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Manganese	manganese	7439-96-5	--
Uridine 5'-diphosphate	5'-UDP (see all 9)	58-98-0	--
Uridine diphosphate glucose	(UPD)-glucose (see all 24)	133-89-1	--

2 DrugBank Compounds for GYG1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Uridine-5'-Diphosphate	--	58-98-0	target	--	10592235
Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester	--	--	target	--	10592235

8 Novoseek chemical compound relationships for GYG1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cdp-d-glucose	86	4	7867779 (1)
glycogen	83.9	109	7672505 (6), 8408025 (6), 10644553 (6), 17055998 (5) (see all 39)
udpglucose	75.7	10	7867779 (2), 7771798 (1), 7672505 (1), 8179193 (1) (see all 6)
udpxylose	75.4	2	7625844 (1), 7780202 (1)
glucose	47.1	27	7771798 (3), 12767902 (2), 11719595 (2), 1915338 (2) (see all 14)
trichloroacetic acid	43.6	1	8179193 (1)
polysaccharide	32.6	3	7672505 (1), 8408025 (1), 11708778 (1)
tyrosine	0	4	18671943 (1), 1499031 (1), 1915338 (1)

Search CenterWatch for drugs/clinical trials and news about GYG1 / GLYG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GYG1 gene (3 alternative transcripts):

NM_001184720.1 NM_001184721.1 NM_004130.3

Unigene Cluster for GYG1:

Glycogenin 1

Hs.477892 [show with all ESTs]

Unigene Representative Sequence: NM_004130

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000345003(uc011bnp.2 uc003ewn.3 uc003ewo.3 uc003ewp.3)

ENST00000296048 ENST00000483267 ENST00000478067 ENST00000484197 ENST00000492285

ENST00000461191 ENST00000473005 ENST00000465547 ENST00000497528 ENST00000488851

ENST00000479119 ENST00000469873 ENST00000479236

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		hsa-miR-194 hsa-miR-4277
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Additional cDNA sequence:

AF087942.1 AK299962.1 AK312283.1 BC000033.2 BC031096.2 CR536547.1 U31525.1 U44131.1

X79537.1

21 DOTS entries:

DT.100806483 DT.100029240 DT.446917 DT.95160304 DT.100806479 DT.100806474 DT.100806480 DT.100029243

DT.100806477 DT.100842559 DT.120883062 DT.100806471 DT.100806476 DT.120883101 DT.120883102 DT.120883105

DT.120883107 DT.120883126 DT.97850445 DT.100806473 DT.95187325

24/476 AceView cDNA sequences (see all 476):

AI523180 AI199964 BI767516 BM836970 BG191977 BP342552 BM847082 BQ183225

BU688159 BI753155 AI097190 AL560162 BG185164 BM824852 BX331328 AL542000

AA746266 BX280372 T16840 CD370509 AI818170 AW244064 BC000033 AA411678

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for GYG1 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13a	·
SP1:													-		-																				-		-		-		-
SP2:													-		-																				-		-		-		-								-
SP3:													-		-																		-		-		-		-		-
SP4:													-		-																				-		-		-		-				-		-		-
SP5:													-		-																		-		-		-		-		-		-

ExUns:	13b	·	13c
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for GYG1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GYG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAAAATGCT

About this image

GYG1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Right Ventricle

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GYG1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GYG1

SOURCE GeneReport for Unigene cluster: Hs.477892

SABiosciences Custom PCR Arrays for GYG1

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for GYG1 gene from 9/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gyg^{1 , 5}	glycogenin^{1, 5}	86.99(n)¹ 86.19(a)¹		3 (6.19 cM)⁵ 27357¹ NM_013755.2¹ NP_038783.1¹ 20122084⁵
chicken (Gallus gallus)	Aves	GYG1¹	glycogenin 1	73.19(n) 71.69(a)		425050 NM_001006558.1 NP_001006558.1
lizard (Anolis carolinensis)	Reptilia	GYG1⁶	--	63(a)	1 ↔ 1	3(19130125-19149747)
African clawed frog (Xenopus laevis)	Amphibia	LOC398319²	mitotic phosphoprotein 45	75.7(n)		AF419148.1
zebrafish (Danio rerio)	Actinopterygii	Dr.13604²	Danio rerio cDNA clone MGC55385 IMAGE2602021, complete more	74.03(n)		BC044387.1
fruit fly (Drosophila melanogaster)	Insecta	Glycogenin⁶	Glycogenin	23(a)	1 → many	2R(17087988-17100474)
worm (Caenorhabditis elegans)	Secernentea	M116.2⁶ gyg-2⁶ (see all 4)	Protein GYG-2 (see all 4)	47(a) 46(a) (see all 4)	many ↔ many many ↔ many (see all 4)	IV(8398850-8400349) V(16745085-16746240)
thale cress (Arabidopsis thaliana)	eudicotyledons	AtGolS7⁶ AtGolS3⁶ (see all 16)	galactinol synthase 3 (see all 16)	21(a) 21(a) (see all 16)	possible ortholog possible ortholog (see all 16)	1(22271226-22273214) 1(3019819-3021441)
rice (Oryza sativa)	Liliopsida	-- -- (see all 10)	glycosyl transferase 8 domain containing protein, ... glycosyl transferase 8 domain containing protein, ... (see all 10)	21(a) 20(a) (see all 10)	possible ortholog possible ortholog (see all 10)	7(29219291-29220851) 3(11365917-11367637)

ENSEMBL Gene Tree for GYG1 (if available)
TreeFam Gene Tree for GYG1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GYG1 gene

GYG2P1² GYG2²

2 SIMAP similar genes for GYG1 using alignment to 7 protein entries: GLYG_HUMAN (see all proteins):

GYG2P1 GYG2

GYG1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for GYG1
PGOHUM00000248649 PGOHUM00000244731 PGOHUM00000249391

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77532260^1,2	F,	--	146079610(+)	`AAAGTG/ATAGCC`	3	--	us2k¹		1		WA	118
rs7629466^1,2	C,F,H,	--	146079714(+)	`ACAACG/AGAAGC`	3	--	us2k¹ tfbs³		4		NS EA	418
rs112613789^1,2	C,	--	146079868(+)	`TGTTTT/CGTAAC`	3	--	us2k¹		2		NA	122
rs78322609^1,2		--	146080371(+)	`TGTTTC/GGACTG`	3	--	us2k¹		0	--	--	--	--
rs112003601^1,2		--	146081068(+)	`TGTTTG/TCTTGT`	3	--	us2k¹		2		CSA WA	120
rs3736641^1,2	C,F,A,H,	--	146081240(+)	`GCAGCC/GGCAGC`	3	--	us2k¹		11		EA NS NA WA CSA	665
rs111848296^1,2	C,	--	146081611(+)	`GTGTTC/GCCGGC`	3	--	int¹		2		WA	120
rs13100699^1,2	C,F,H	--	146081935(+)	`CCCAGG/AAAGCA`	3	--	int¹		3		NS NA	352
rs73866929^1,2	C,	--	146082204(+)	`CATTGA/CGGCTA`	3	--	int¹		3		WA NA	240
rs76955627^1,2	F,	--	146082247(+)	`ACAAAG/TATTGC`	3	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for GYG1 (148709128 - 148745456 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GYG1: --
Human Gene Mutation Database (HGMD): GYG1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GYG1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GYG1 for disorders           About GeneDecksing

OMIM gene information: 603942
OMIM disorders: 613507
UniProtKB/Swiss-Prot: GLYG_HUMAN, P46976

Defects in GYG1 are the cause of glycogen storage disease type 15 (GSD15) [MIM:613507]. It is 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

6 diseases for GYG1: About MalaCards

glycogen storage disease xv glycogen storage disease lymphogranuloma venereum ornithosis

metabolic disorders diabetes mellitus

1 Novoseek disease relationship for GYG1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
niddm	5.6	2	10334321 (2)

Export disorders for GYG1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GYG1 gene, integrated from 9 sources (see all 67):
(articles sorted by number of sources associating them with GYG1)

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The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. (PubMed id 8602861)^{1, 2, 3, 9} Barbetti F.... Consalez G.G. (1996)
Interaction between glycogenin and glycogen synthase. (PubMed id 17055998)^{1, 2, 9} Skurat A.V....Roach P.J. (2006)
Glycogenin-1 deficiency and inactivated priming of gl ycogen synthesis. (PubMed id 20357282)^{1, 2, 9} Moslemi A.R....Oldfors A. (2010)
The human intron-containing gene for glycogenin maps to chromosome 3, band q24. (PubMed id 8661012)^{1, 2, 9} Lomako J....Rodriguez I.R. (1996)
Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain. (PubMed id 10395894)^{1, 2, 9} van Maanen M.-H.... Abraham L.J. (1999)
Structure and chromosomal localization of the human glycogenin-2 gene GYG2. (PubMed id 10721716)^{1, 2, 9} Zhai L.... Roach P.J. (2000)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Increases in glycogenin and glycogenin mRNA accompany glycogen resynthesis in human skeletal muscle. (PubMed id 15870102)^{1, 9} Shearer J....Graham T.E. (2005)
Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle. (PubMed id 15860684)^{1, 9} Shearer J....Bakovic M. (2005)
Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism. (PubMed id 9857012)^{1, 9} Mu J. and Roach P.J. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2992	HGNC: 4699	AceView: GYG	Ensembl:ENSG00000163754	euGenes: HUgn2992
ECgene: GYG1	H-InvDB: GYG1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GYG1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GYG1 gene
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Patent Information for GYG1 gene:
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GeneCards and IP:
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