Details for: G6PC1

Gene ID: 2538

Symbol: G6PC1

Ensembl ID: ENSG00000131482

Description: glucose-6-phosphatase catalytic subunit 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: kidney epithelial cell (CL0002518)
    Fold Change: 2.33
    Marker Score: 2463
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.19
    Marker Score: 7178
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.59
    Marker Score: 1087
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.52
    Marker Score: 1511.5
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.45
    Marker Score: 7799
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.43
    Marker Score: 6192
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 875
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.36
    Marker Score: 8760
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 860
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.23
    Marker Score: 1899
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 490
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.14
    Marker Score: 598
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.03
    Marker Score: 1961
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 376
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5342
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.92
    Marker Score: 706
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.9
    Marker Score: 2121
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.88
    Marker Score: 5349
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.84
    Marker Score: 485
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.76
    Marker Score: 2703
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.69
    Marker Score: 454
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2800
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.65
    Marker Score: 692
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1296
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.63
    Marker Score: 506
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.63
    Marker Score: 705
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 478
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.46
    Marker Score: 2218
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.45
    Marker Score: 6993
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.42
    Marker Score: 160
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 185.5
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 374
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.36
    Marker Score: 2398
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.32
    Marker Score: 189
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.31
    Marker Score: 503
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.29
    Marker Score: 109
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.28
    Marker Score: 283
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.28
    Marker Score: 129
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.25
    Marker Score: 151
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.24
    Marker Score: 135
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.24
    Marker Score: 69
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.23
    Marker Score: 96
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.21
    Marker Score: 339
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.2
    Marker Score: 127
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.2
    Marker Score: 107
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.19
    Marker Score: 138
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.18
    Marker Score: 203
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.15
    Marker Score: 39
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.15
    Marker Score: 148
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.13
    Marker Score: 36
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.13
    Marker Score: 57
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.12
    Marker Score: 69
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.12
    Marker Score: 39
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.11
    Marker Score: 59
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.11
    Marker Score: 105
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.11
    Marker Score: 67
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.1
    Marker Score: 214
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1
    Marker Score: 101
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.09
    Marker Score: 67
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.08
    Marker Score: 58
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.08
    Marker Score: 56
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.08
    Marker Score: 16
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.08
    Marker Score: 71
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.08
    Marker Score: 45
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.07
    Marker Score: 102
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.07
    Marker Score: 77
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.07
    Marker Score: 117
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.07
    Marker Score: 28
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.06
    Marker Score: 17
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.06
    Marker Score: 42
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.06
    Marker Score: 39.5
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.06
    Marker Score: 60

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Other Information

**Key characteristics:** * G6PC1 is a glycoprotein with a molecular weight of approximately 110 kDa. * It is expressed in a variety of cell types, including kidney epithelial cells, hepatocytes, enterocytes, and immune cells. * G6PC1 is a highly regulated protein, with its expression being controlled by a variety of factors, including glucose concentration, insulin signaling, and oxidative stress. **Pathways and functions:** * G6PC1 is involved in a variety of metabolic pathways, including the glycolytic pathway, the pentose phosphate pathway, and the citric acid cycle. * It is also involved in the regulation of energy metabolism, including the production of ATP and the maintenance of blood glucose levels. * G6PC1 has been shown to play a role in the development of a number of diseases, including diabetes, obesity, and metabolic syndrome. **Clinical significance:** * Mutations in G6PC1 have been linked to a number of human diseases, including diabetes, obesity, and metabolic syndrome. * G6PC1 is a potential target for the treatment of these diseases. * The development of drugs that target G6PC1 could provide new treatments for these disorders. **Additional information:** * G6PC1 is a member of the G6Pase family of enzymes, which are involved in the regulation of glucose metabolism. * It is also a substrate for the protein kinase B (PKB) pathway, which is involved in the regulation of cell growth and metabolism. * G6PC1 is a well-studied protein, with a number of inhibitors and activators available for research purposes.

Genular Protein ID: 579657725

Symbol: G6PC1_HUMAN

Name: Glucose-6-phosphatase

UniProtKB Accession Codes:

P35575 A1L4C0 B4E1C3 K7EL82

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DEPOD 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 1 SABIO-RK 1 SIGNOR 1 SMART 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: 8211187

Title: Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

PubMed ID: 8211187

DOI: 10.1126/science.8211187

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 9497333

Title: Transmembrane topology of glucose-6-phosphatase.

PubMed ID: 9497333

DOI: 10.1074/jbc.273.11.6144

PubMed ID: 9705299

Title: Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.

PubMed ID: 9705299

DOI: 10.1074/jbc.273.34.21658

PubMed ID: 12093795

Title: The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.

PubMed ID: 12093795

DOI: 10.1074/jbc.m201853200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 8182131

Title: Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

PubMed ID: 8182131

DOI: 10.1172/jci117192

PubMed ID: 7573034

Title: Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

PubMed ID: 7573034

PubMed ID: 7623438

Title: Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.

PubMed ID: 7623438

DOI: 10.1007/bf00711368

PubMed ID: 7655466

Title: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

PubMed ID: 7655466

DOI: 10.1093/hmg/4.6.1095

PubMed ID: 9001800

Title: Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

PubMed ID: 9001800

DOI: 10.1111/j.1399-0004.1996.tb02627.x

PubMed ID: 8733042

Title: Mutation analysis in 24 French patients with glycogen storage disease type 1a.

PubMed ID: 8733042

DOI: 10.1136/jmg.33.5.358

PubMed ID: 9332655

Title: Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

PubMed ID: 9332655

DOI: 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p

PubMed ID: 9700612

Title: Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

PubMed ID: 9700612

DOI: 10.1023/a:1005339616074

PubMed ID: 9700613

Title: A novel mutation in a Brazilian patient with glycogen storage disease type 1a.

PubMed ID: 9700613

DOI: 10.1023/a:1005391600145

PubMed ID: 9506659

Title: A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

PubMed ID: 9506659

DOI: 10.1016/s0022-3476(98)70463-9

PubMed ID: 10094563

Title: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified.

PubMed ID: 10094563

DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e

PubMed ID: 10447271

Title: Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.

PubMed ID: 10447271

DOI: 10.1002/(sici)1098-1004(1999)14:1<91::aid-humu21>3.0.co;2-b

PubMed ID: 10070617

Title: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

PubMed ID: 10070617

DOI: 10.1023/a:1005495131118

PubMed ID: 10748407

Title: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

PubMed ID: 10748407

DOI: 10.1002/(sici)1096-8628(20000313)91:2<107::aid-ajmg5>3.3.co;2-p

PubMed ID: 10612834

Title: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

PubMed ID: 10612834

DOI: 10.1002/(sici)1098-1004(200001)15:1<115::aid-humu23>3.0.co;2-w

PubMed ID: 10738005

Title: Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease).

PubMed ID: 10738005

DOI: 10.1002/(sici)1098-1004(200004)15:4<390::aid-humu32>3.0.co;2-n

PubMed ID: 10874313

Title: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.

PubMed ID: 10874313

DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu17>3.0.co;2-a

PubMed ID: 11058903

Title: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

PubMed ID: 11058903

DOI: 10.1002/1098-1004(200011)16:5<444::aid-humu10>3.0.co;2-f

PubMed ID: 11058910

Title: A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease).

PubMed ID: 11058910

DOI: 10.1002/1098-1004(200011)16:5<447::aid-humu17>3.0.co;2-m

PubMed ID: 10960498

Title: Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

PubMed ID: 10960498

DOI: 10.1203/00006450-200009000-00011

PubMed ID: 12373566

Title: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

PubMed ID: 12373566

DOI: 10.1007/s00431-002-0998-5

PubMed ID: 15316959

Title: Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

PubMed ID: 15316959

DOI: 10.1002/ajmg.a.30232

PubMed ID: 15151508

Title: Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

PubMed ID: 15151508

DOI: 10.1111/j.1399-0004.2004.00260.x

PubMed ID: 15542400

Title: Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

PubMed ID: 15542400

DOI: 10.1016/j.ymgme.2004.06.010

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 357
  • Mass: 40484
  • Checksum: 2FEA1C78928A9919
  • Sequence:
    • MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW FHLQEAVGIK 
LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP LIKQFPVTCE TGPGSPSGHA 
MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ 
VVAGVLSGIA VAETFSHIHS IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK 
AQRWCEQPEW VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV 
ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG QPHKKSL

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.