Details for: GYG1

Gene ID: 2992

Symbol: GYG1

Ensembl ID: ENSG00000163754

Description: glycogenin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 151.0975
    Cell Significance Index: -23.5000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 69.3888
    Cell Significance Index: -17.6000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.1067
    Cell Significance Index: -23.2000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 52.6982
    Cell Significance Index: -24.8800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 49.9626
    Cell Significance Index: -25.7000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 37.4503
    Cell Significance Index: -25.1300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.6873
    Cell Significance Index: -23.5700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.3397
    Cell Significance Index: -23.8500
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 11.4261
    Cell Significance Index: 70.6900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.1074
    Cell Significance Index: -24.1000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.6792
    Cell Significance Index: 89.7700
  • Cell Name: germ cell (CL0000586)
    Fold Change: 3.4275
    Cell Significance Index: 25.8800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.6098
    Cell Significance Index: 42.1100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.9374
    Cell Significance Index: -5.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.4805
    Cell Significance Index: 43.4800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2846
    Cell Significance Index: 208.9300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0693
    Cell Significance Index: 965.5000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.9368
    Cell Significance Index: 24.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9116
    Cell Significance Index: 106.2400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7965
    Cell Significance Index: 86.6400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.7288
    Cell Significance Index: 13.4700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5153
    Cell Significance Index: 50.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4950
    Cell Significance Index: 23.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.4041
    Cell Significance Index: 10.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3771
    Cell Significance Index: 26.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3694
    Cell Significance Index: 50.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3147
    Cell Significance Index: 14.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3012
    Cell Significance Index: 19.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2748
    Cell Significance Index: 21.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2650
    Cell Significance Index: 144.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2621
    Cell Significance Index: 52.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2610
    Cell Significance Index: 47.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2599
    Cell Significance Index: 33.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2474
    Cell Significance Index: 42.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2471
    Cell Significance Index: 109.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2234
    Cell Significance Index: 16.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2130
    Cell Significance Index: 26.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1696
    Cell Significance Index: 21.9100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.1644
    Cell Significance Index: 2.3400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1585
    Cell Significance Index: 30.1600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1513
    Cell Significance Index: 54.2900
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.1474
    Cell Significance Index: 0.4000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1392
    Cell Significance Index: 7.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0949
    Cell Significance Index: 6.7100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0796
    Cell Significance Index: 55.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0743
    Cell Significance Index: 14.7500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0641
    Cell Significance Index: 7.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0508
    Cell Significance Index: 2.5700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0440
    Cell Significance Index: 0.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0398
    Cell Significance Index: 2.0700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0205
    Cell Significance Index: 0.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0174
    Cell Significance Index: 32.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0166
    Cell Significance Index: 0.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0070
    Cell Significance Index: 4.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0066
    Cell Significance Index: 0.1900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0025
    Cell Significance Index: 0.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0015
    Cell Significance Index: -1.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0020
    Cell Significance Index: -1.5100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0023
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0079
    Cell Significance Index: -4.9400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0096
    Cell Significance Index: -17.6800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0111
    Cell Significance Index: -17.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0125
    Cell Significance Index: -7.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0145
    Cell Significance Index: -6.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0157
    Cell Significance Index: -21.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0170
    Cell Significance Index: -1.7400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0239
    Cell Significance Index: -17.5200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0307
    Cell Significance Index: -0.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0384
    Cell Significance Index: -5.5800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0385
    Cell Significance Index: -0.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0457
    Cell Significance Index: -2.4000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0462
    Cell Significance Index: -9.7400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0555
    Cell Significance Index: -1.5100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0678
    Cell Significance Index: -7.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0705
    Cell Significance Index: -20.2800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0728
    Cell Significance Index: -0.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0773
    Cell Significance Index: -3.5100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0827
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0841
    Cell Significance Index: -9.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0967
    Cell Significance Index: -2.0600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1729
    Cell Significance Index: -3.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1795
    Cell Significance Index: -7.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1862
    Cell Significance Index: -10.4500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1961
    Cell Significance Index: -5.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2040
    Cell Significance Index: -21.2400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2076
    Cell Significance Index: -7.8600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2253
    Cell Significance Index: -2.5600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2399
    Cell Significance Index: -2.0200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2435
    Cell Significance Index: -3.4900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2708
    Cell Significance Index: -16.6000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2812
    Cell Significance Index: -8.0600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2828
    Cell Significance Index: -7.0700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2907
    Cell Significance Index: -23.0200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2916
    Cell Significance Index: -19.6100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2919
    Cell Significance Index: -9.3500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3178
    Cell Significance Index: -1.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3321
    Cell Significance Index: -9.2800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3436
    Cell Significance Index: -4.4000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3560
    Cell Significance Index: -14.5900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3605
    Cell Significance Index: -22.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Glycogenin 1 is a single-pass transmembrane protein with a molecular weight of approximately 25 kDa. It possesses a unique glycogenin glucosyltransferase activity, which enables it to catalyze the transfer of glucose moieties from UDP-glucose to glycogenin, initiating glycogen synthesis. Glycogenin 1 is also characterized by its ability to bind manganese ions, which is essential for its enzymatic activity. **Pathways and Functions** Glycogenin 1 is involved in several critical pathways, including: 1. **Glycogen biosynthesis**: Glycogenin 1 initiates glycogen synthesis by transferring glucose moieties from UDP-glucose to glycogenin, forming a branched glycogen structure. 2. **Glycogen metabolism**: Glycogenin 1 plays a role in glycogen breakdown (glycogenolysis) and storage diseases, such as glycogen storage disease type XV (GYG1). 3. **Immune system**: Glycogenin 1 has been identified in immune cells, including monocytes and T cells, suggesting its involvement in immune function and cellular metabolism. 4. **Neutrophil degranulation**: Glycogenin 1 has been shown to be involved in the regulation of neutrophil degranulation, a process crucial for the innate immune response. **Clinical Significance** Glycogenin 1 deficiency is associated with glycogen storage disease type XV (GYG1), a rare genetic disorder characterized by: 1. **Hypoglycemia**: Low blood glucose levels, which can lead to hypoglycemic episodes. 2. **Lactic acidemia**: Elevated levels of lactate in the blood, which can be life-threatening. 3. **Liver dysfunction**: Abnormal liver function, including elevated liver enzymes and fatty liver. 4. **Myoclonic epilepsy of Lafora**: A rare form of epilepsy characterized by seizures and intellectual disability. In summary, glycogenin 1 is a critical protein involved in glycogen synthesis and metabolism, immune function, and cellular metabolism. Its deficiency has significant clinical implications, highlighting the importance of further research into the molecular mechanisms underlying glycogen storage disease type XV (GYG1).

Genular Protein ID: 2531891917

Symbol: GLYG_HUMAN

Name: N/A

UniProtKB Accession Codes:

P46976 D3DNH0 D3DNH1 D3DNH2 Q6FHZ1 Q9UNV0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CDD 1 CTD 1 ChEBI 13 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 19 EMDB 8 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 23 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 7 RefSeq 3 Rhea 8 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.