Gene GYG1 - ENSG00000163754 | NCBI Gene ID: 2992

Details for: GYG1

Gene ID: 2992

Symbol: GYG1

Ensembl ID: ENSG00000163754

Description: glycogenin 1

Associated with

Disease
(R-HSA-1643685)
Diseases of carbohydrate metabolism
(R-HSA-5663084)
Diseases of metabolism
(R-HSA-5668914)
Glycogen breakdown (glycogenolysis)
(R-HSA-70221)
Glycogen metabolism
(R-HSA-8982491)
Glycogen storage diseases
(R-HSA-3229121)
Glycogen storage disease type 0 (muscle gys1)
(R-HSA-3828062)
Glycogen storage disease type ii (gaa)
(R-HSA-5357609)
Glycogen storage disease type xv (gyg1)
(R-HSA-3814836)
Glycogen synthesis
(R-HSA-3322077)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Myoclonic epilepsy of lafora
(R-HSA-3785653)
Neutrophil degranulation
(R-HSA-6798695)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular region
(GO:0005576)
Ficolin-1-rich granule lumen
(GO:1904813)
Glycogen biosynthetic process
(GO:0005978)
Glycogenin glucosyltransferase activity
(GO:0008466)
Glycosyltransferase activity
(GO:0016757)
Lysosomal lumen
(GO:0043202)
Manganese ion binding
(GO:0030145)
Membrane
(GO:0016020)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Secretory granule lumen
(GO:0034774)
Udp-alpha-d-glucose:glucosyl-glycogenin alpha-d-glucosyltransferase activity
(GO:0102751)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: oogonial cell (CL0000024)
Fold Change: 2.07
Marker Score: 2975
Cell Name: oocyte (CL0000023)
Fold Change: 1.97
Marker Score: 487
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 1.78
Marker Score: 4431
Cell Name: male germ cell (CL0000015)
Fold Change: 1.66
Marker Score: 479
Cell Name: blood cell (CL0000081)
Fold Change: 1.62
Marker Score: 18774
Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
Fold Change: 1.59
Marker Score: 350
Cell Name: mature T cell (CL0002419)
Fold Change: 1.57
Marker Score: 15588
Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
Fold Change: 1.52
Marker Score: 344
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 1.48
Marker Score: 1788
Cell Name: mural cell (CL0008034)
Fold Change: 1.46
Marker Score: 167395
Cell Name: primordial germ cell (CL0000670)
Fold Change: 1.44
Marker Score: 1800
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 1.41
Marker Score: 463
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 1.4
Marker Score: 8943
Cell Name: plasmablast (CL0000980)
Fold Change: 1.38
Marker Score: 1834
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 1.37
Marker Score: 3792
Cell Name: myelocyte (CL0002193)
Fold Change: 1.31
Marker Score: 568
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 1.3
Marker Score: 1158
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 1.27
Marker Score: 702
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 1.25
Marker Score: 2443
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 1.24
Marker Score: 1383
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 1.23
Marker Score: 68542
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 1.18
Marker Score: 30187.5
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 1.1
Marker Score: 930
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.09
Marker Score: 17043
Cell Name: non-classical monocyte (CL0000875)
Fold Change: 1.09
Marker Score: 2629
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 1.07
Marker Score: 3372
Cell Name: decidual cell (CL2000002)
Fold Change: 1.07
Marker Score: 4595
Cell Name: supporting cell (CL0000630)
Fold Change: 1.06
Marker Score: 1988
Cell Name: muscle cell (CL0000187)
Fold Change: 1.05
Marker Score: 296
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71633.5
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 0.99
Marker Score: 47856
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.99
Marker Score: 10211
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30380
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.98
Marker Score: 899
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.98
Marker Score: 643
Cell Name: PP cell (CL0000696)
Fold Change: 0.97
Marker Score: 219
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.96
Marker Score: 388
Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 0.96
Marker Score: 927
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 0.95
Marker Score: 2499
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.94
Marker Score: 1041
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 0.94
Marker Score: 1544.5
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.94
Marker Score: 239
Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.94
Marker Score: 540
Cell Name: Mueller cell (CL0000636)
Fold Change: 0.94
Marker Score: 1301
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2382
Cell Name: Unknown (CL0000548)
Fold Change: 0.93
Marker Score: 679
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 0.93
Marker Score: 1213
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.92
Marker Score: 475
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 0.92
Marker Score: 540
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.92
Marker Score: 1523
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.91
Marker Score: 432
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.91
Marker Score: 607.5
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 0.9
Marker Score: 2537
Cell Name: promyelocyte (CL0000836)
Fold Change: 0.9
Marker Score: 447
Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
Fold Change: 0.9
Marker Score: 1770
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.89
Marker Score: 2038.5
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.89
Marker Score: 2679.5
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.89
Marker Score: 3491.5
Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
Fold Change: 0.87
Marker Score: 1229
Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: 0.87
Marker Score: 397
Cell Name: T-helper 17 cell (CL0000899)
Fold Change: 0.86
Marker Score: 567
Cell Name: IgM plasma cell (CL0000986)
Fold Change: 0.86
Marker Score: 301
Cell Name: dendritic cell, human (CL0001056)
Fold Change: 0.86
Marker Score: 879
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.86
Marker Score: 310
Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 0.86
Marker Score: 197
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 0.86
Marker Score: 2505
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.86
Marker Score: 5199
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.85
Marker Score: 204
Cell Name: smooth muscle cell of large intestine (CL1000279)
Fold Change: 0.85
Marker Score: 322
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 0.84
Marker Score: 266.5
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.84
Marker Score: 504
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 0.84
Marker Score: 528
Cell Name: lung macrophage (CL1001603)
Fold Change: 0.83
Marker Score: 955
Cell Name: adventitial cell (CL0002503)
Fold Change: 0.83
Marker Score: 205.5
Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.83
Marker Score: 167
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 0.83
Marker Score: 696
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 0.83
Marker Score: 1465
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.82
Marker Score: 328
Cell Name: pericyte (CL0000669)
Fold Change: 0.82
Marker Score: 478
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.82
Marker Score: 1260
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.82
Marker Score: 1261
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.82
Marker Score: 333
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.82
Marker Score: 430
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.81
Marker Score: 4643
Cell Name: neutrophil (CL0000775)
Fold Change: 0.81
Marker Score: 493
Cell Name: muscle precursor cell (CL0000680)
Fold Change: 0.8
Marker Score: 208
Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.8
Marker Score: 277
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.8
Marker Score: 212
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.8
Marker Score: 714
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.8
Marker Score: 4718
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.79
Marker Score: 1858
Cell Name: large intestine goblet cell (CL1000320)
Fold Change: 0.79
Marker Score: 209
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.79
Marker Score: 602.5
Cell Name: gamma-delta T cell (CL0000798)
Fold Change: 0.78
Marker Score: 526
Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
Fold Change: 0.78
Marker Score: 566
Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.78
Marker Score: 478.5
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.78
Marker Score: 379.5
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1262
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.78
Marker Score: 152
Cell Name: classical monocyte (CL0000860)
Fold Change: 0.77
Marker Score: 3219

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## Summary The GYG1 gene encodes for a protein called glycogenin 1, a glycoprotein that is involved in the metabolism of glycogen. It is expressed in a variety of cell types, including oogonial cells, oocyte, CD14-positive monocyte, male germ cell, blood cell, NKp44-negative group 3 innate lymphoid cell, human, mature T cell, NKp44-positive group 3 innate lymphoid cell, human, myeloid leukocyte, and mural cell. ## Key characteristics * GYG1 is a glycoprotein with a molecular weight of approximately 150 kDa. * It is expressed in high levels in the liver, heart, skeletal muscle, and adipose tissue. * It is a key enzyme in the degradation of glycogen. * It is involved in the regulation of blood glucose levels and the metabolism of carbohydrates. ## Pathways and functions * GYG1 is involved in the degradation of glycogen into glucose. * It is a key enzyme in the regulation of blood glucose levels. * It is also involved in the synthesis of glycogen from glucose. * It is involved in the metabolism of carbohydrates, including the breakdown of glycogen in the liver and the synthesis of glucose for energy. ## Clinical significance * Mutations in the GYG1 gene have been linked to several diseases, including myoclonic epilepsy of lafora and glycogen storage diseases. * In myoclonic epilepsy of lafora, mutations in GYG1 are responsible for the accumulation of glycogen in the brain, which can lead to seizures. * In glycogen storage diseases, mutations in GYG1 are responsible for the accumulation of glycogen in muscle cells, which can lead to muscle weakness and other symptoms. ## Other important points * GYG1 is a highly conserved gene, with a similar gene found in humans, mice, and rats. * It is a key regulator of glycogen metabolism. * It is a target for therapy in some diseases that are caused by mutations in the GYG1 gene.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

GLYG_HUMAN

Genular Protein ID: 2531891917

Symbol: GLYG_HUMAN

Name: N/A

UniProtKB Accession Codes:

P46976 D3DNH0 D3DNH1 D3DNH2 Q6FHZ1 Q9UNV0

Database IDs:

Citations:

PubMed ID: 8602861

Title: The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization.

PubMed ID: 8602861

DOI: 10.1006/bbrc.1996.0359

PubMed ID: 8661012

Title: The human intron-containing gene for glycogenin maps to chromosome 3, band q24.

PubMed ID: 8661012

DOI: 10.1006/geno.1996.0228

PubMed ID: 10395894

Title: Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain.

PubMed ID: 10395894

DOI: 10.1016/s0378-1119(99)00211-5

PubMed ID: 10721716

Title: Structure and chromosomal localization of the human glycogenin-2 gene GYG2.

PubMed ID: 10721716

DOI: 10.1016/s0378-1119(99)00520-x

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17055998

Title: Interaction between glycogenin and glycogen synthase.

PubMed ID: 17055998

DOI: 10.1016/j.abb.2006.09.024

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 25272951

Title: A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

PubMed ID: 25272951

DOI: 10.1002/ana.24284

PubMed ID: 22160680

Title: Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis.

PubMed ID: 22160680

DOI: 10.1073/pnas.1113921108

PubMed ID: 30356213

Title: Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.

PubMed ID: 30356213

DOI: 10.1038/s41586-018-0644-7

PubMed ID: 20357282

Title: Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

PubMed ID: 20357282

DOI: 10.1056/nejmoa0900661

PubMed ID: 35690592

Title: Mechanism of glycogen synthase inactivation and interaction with glycogenin.

PubMed ID: 35690592

DOI: 10.1038/s41467-022-31109-6

PubMed ID: 35835870

Title: Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate.

PubMed ID: 35835870

DOI: 10.1038/s41594-022-00799-3

Sequence Information:

Length: 350
Mass: 39384
Checksum: ABAEEB7160DEC4DF
Sequence:

MTDQAFVTLT TNDAYAKGAL VLGSSLKQHR TTRRLVVLAT PQVSDSMRKV LETVFDEVIM 
VDVLDSGDSA HLTLMKRPEL GVTLTKLHCW SLTQYSKCVF MDADTLVLAN IDDLFDREEL 
SAAPDPGWPD CFNSGVFVYQ PSVETYNQLL HLASEQGSFD GGDQGILNTF FSSWATTDIR 
KHLPFIYNLS SISIYSYLPA FKVFGASAKV VHFLGRVKPW NYTYDPKTKS VKSEAHDPNM 
THPEFLILWW NIFTTNVLPL LQQFGLVKDT CSYVNVLSDL VYTLAFSCGF CRKEDVSGAI 
SHLSLGEIPA MAQPFVSSEE RKERWEQGQA DYMGADSFDN IKRKLDTYLQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: GYG1

Associated with

Cells (max top 100)

Other Information

The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. PubMed ID: 8602861

The human intron-containing gene for glycogenin maps to chromosome 3, band q24. PubMed ID: 8661012

Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain. PubMed ID: 10395894

Structure and chromosomal localization of the human glycogenin-2 gene GYG2. PubMed ID: 10721716

The DNA sequence, annotation and analysis of human chromosome 3. PubMed ID: 16641997

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Interaction between glycogenin and glycogen synthase. PubMed ID: 17055998

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Initial characterization of the human central proteome. PubMed ID: 21269460

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

A new muscle glycogen storage disease associated with glycogenin-1 deficiency. PubMed ID: 25272951

Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis. PubMed ID: 22160680

Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis. PubMed ID: 30356213

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. PubMed ID: 20357282

Mechanism of glycogen synthase inactivation and interaction with glycogenin. PubMed ID: 35690592

Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate. PubMed ID: 35835870