Details for: GYS1

Gene ID: 2997

Symbol: GYS1

Ensembl ID: ENSG00000104812

Description: glycogen synthase 1

Associated with

Cells (max top 100)

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

  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.74
    Marker Score: 636
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.38
    Marker Score: 50794
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.31
    Marker Score: 13555
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.29
    Marker Score: 5338.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.29
    Marker Score: 2618
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.28
    Marker Score: 1974.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.24
    Marker Score: 11623
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.23
    Marker Score: 2702.5
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.22
    Marker Score: 3054
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.18
    Marker Score: 18466
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.18
    Marker Score: 72565
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.16
    Marker Score: 25847
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.14
    Marker Score: 24349
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.09
    Marker Score: 10349
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.05
    Marker Score: 8986
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.03
    Marker Score: 3999
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.03
    Marker Score: 4187
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.03
    Marker Score: 39045
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.02
    Marker Score: 330
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.02
    Marker Score: 3627
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1
    Marker Score: 2353
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71772
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47996
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 490
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.94
    Marker Score: 7240
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.93
    Marker Score: 18587
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.93
    Marker Score: 540
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.9
    Marker Score: 1092
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.88
    Marker Score: 494
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5008
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.87
    Marker Score: 276
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.87
    Marker Score: 3635
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.85
    Marker Score: 12715
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.85
    Marker Score: 266
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.85
    Marker Score: 355
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.83
    Marker Score: 413
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.82
    Marker Score: 1333
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 569
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.74
    Marker Score: 856
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.73
    Marker Score: 985
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.73
    Marker Score: 192
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.73
    Marker Score: 437
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3049
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.73
    Marker Score: 4364
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.72
    Marker Score: 820
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.71
    Marker Score: 347
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.71
    Marker Score: 413
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 331
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 629
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.64
    Marker Score: 11445
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.64
    Marker Score: 490
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.64
    Marker Score: 557
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.62
    Marker Score: 1188
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.61
    Marker Score: 399
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.61
    Marker Score: 157
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.6
    Marker Score: 664
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.6
    Marker Score: 518
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.58
    Marker Score: 969.5
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.57
    Marker Score: 326
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.56
    Marker Score: 153
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.56
    Marker Score: 194
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.55
    Marker Score: 161
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.55
    Marker Score: 665
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.55
    Marker Score: 250
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.54
    Marker Score: 952
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.54
    Marker Score: 419
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.53
    Marker Score: 509
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.53
    Marker Score: 782
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.53
    Marker Score: 293
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.52
    Marker Score: 346
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.52
    Marker Score: 128
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.52
    Marker Score: 176
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.51
    Marker Score: 8250
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.51
    Marker Score: 268
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.5
    Marker Score: 127
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.5
    Marker Score: 701
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.5
    Marker Score: 214
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.49
    Marker Score: 532
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.48
    Marker Score: 1783
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.48
    Marker Score: 126
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.47
    Marker Score: 119
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.47
    Marker Score: 1971
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.47
    Marker Score: 1327
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.46
    Marker Score: 425
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.46
    Marker Score: 1625
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.45
    Marker Score: 1233
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.45
    Marker Score: 4546
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.45
    Marker Score: 2075
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.45
    Marker Score: 483
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.45
    Marker Score: 473

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Other Information

## Summary GYS1 is a protein that is involved in the synthesis and metabolism of glycogen, a complex carbohydrate that is stored in the liver and muscles. It is an enzyme that transfers glucose-1-phosphate to other molecules, including proteins and lipids. This process is essential for the regulation of blood glucose levels and for the maintenance of energy homeostasis. ## Key characteristics * GYS1 is a highly expressed gene in cells that are involved in glucose metabolism, including subcutaneous fat cells, pvalb GABAergic cortical interneurons, dopaminergic neurons, and ciliary muscle cells. * It is also expressed in skeletal muscle fibers, cardiac muscle myoblasts, and L5 extratelencephalic projecting glutamatergic cortical neurons. * GYS1 is a glycoprotein with a molecular weight of approximately 150 kDa. * It is a dimer, meaning that it consists of two polypeptide chains that are held together by a disulphide bond. * Each chain contains a catalytic domain that is responsible for the transfer of glucose-1-phosphate. ## Pathways and functions * GYS1 is involved in the following metabolic pathways: * Glycogen biosynthetic process * Glycogen metabolism * Regulation of blood glucose levels * It also plays a role in the heart development and function. ## Clinical significance GYS1 is a gene that is linked to a number of human diseases, including: * Glycogen storage diseases, such as glycogen storage disease type 0 (muscle gys1) and glycogen storage disease type xv (gyg1) * Myoclonic epilepsy of lafora * Cardiac arrhythmias Mutations in the GYS1 gene have been linked to these diseases, suggesting that GYS1 plays an important role in the pathogenesis of these conditions.

Genular Protein ID: 1444685186

Symbol: GYS1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P13807 Q9BTT9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 2 CDD 1 CTD 1 ChEBI 21 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 22 EMDB 8 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 8 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 Rhea 4 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2493642

Title: Human muscle glycogen synthase cDNA sequence: a negatively charged protein with an asymmetric charge distribution.

PubMed ID: 2493642

DOI: 10.1073/pnas.86.5.1443

PubMed ID: 7657035

Title: Isolation and characterization of the human muscle glycogen synthase gene.

PubMed ID: 7657035

DOI: 10.2337/diab.44.9.1099

PubMed ID: 9010351

Title: Cloning and characterization of a glycogen synthase cDNA from human endometrium.

PubMed ID: 9010351

DOI: 10.1016/s0960-0760(96)00138-0

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 17928598

Title: Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

PubMed ID: 17928598

DOI: 10.1056/nejmoa066691

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

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: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21668450

Title: R3F, a novel membrane-associated glycogen targeting subunit of protein phosphatase 1 regulates glycogen synthase in astrocytoma cells in response to glucose and extracellular signals.

PubMed ID: 21668450

DOI: 10.1111/j.1471-4159.2011.07345.x

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

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: 737
  • Mass: 83786
  • Checksum: 0E321BBFDEB0BD7F
  • Sequence:
    • MPLNRTLSMS SLPGLEDWED EFDLENAVLF EVAWEVANKV GGIYTVLQTK AKVTGDEWGD 
NYFLVGPYTE QGVRTQVELL EAPTPALKRT LDSMNSKGCK VYFGRWLIEG GPLVVLLDVG 
ASAWALERWK GELWDTCNIG VPWYDREAND AVLFGFLTTW FLGEFLAQSE EKPHVVAHFH 
EWLAGVGLCL CRARRLPVAT IFTTHATLLG RYLCAGAVDF YNNLENFNVD KEAGERQIYH 
RYCMERAAAH CAHVFTTVSQ ITAIEAQHLL KRKPDIVTPN GLNVKKFSAM HEFQNLHAQS 
KARIQEFVRG HFYGHLDFNL DKTLYFFIAG RYEFSNKGAD VFLEALARLN YLLRVNGSEQ 
TVVAFFIMPA RTNNFNVETL KGQAVRKQLW DTANTVKEKF GRKLYESLLV GSLPDMNKML 
DKEDFTMMKR AIFATQRQSF PPVCTHNMLD DSSDPILTTI RRIGLFNSSA DRVKVIFHPE 
FLSSTSPLLP VDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSISTN LSGFGCFMEE 
HIADPSAYGI YILDRRFRSL DDSCSQLTSF LYSFCQQSRR QRIIQRNRTE RLSDLLDWKY 
LGRYYMSARH MALSKAFPEH FTYEPNEADA AQGYRYPRPA SVPPSPSLSR HSSPHQSEDE 
EDPRNGPLEE DGERYDEDEE AAKDRRNIRA PEWPRRASCT SSTSGSKRNS VDTATSSSLS 
TPSEPLSPTS SLGEERN

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.