Details for: PCK1

Gene ID: 5105

Symbol: PCK1

Ensembl ID: ENSG00000124253

Description: phosphoenolpyruvate carboxykinase 1

Associated with

Cells (max top 100)

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

  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 3.23
    Marker Score: 1,568
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.95
    Marker Score: 9,258
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.91
    Marker Score: 15,659
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.64
    Marker Score: 4,069
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.54
    Marker Score: 12,182
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 2.52
    Marker Score: 728
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.09
    Marker Score: 9,035
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.07
    Marker Score: 13,315
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.02
    Marker Score: 2,010
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.75
    Marker Score: 6,207
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.62
    Marker Score: 402
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.57
    Marker Score: 878
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.48
    Marker Score: 3,484
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.41
    Marker Score: 1,354
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.41
    Marker Score: 1,506
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.26
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.25
    Marker Score: 471
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.15
    Marker Score: 3,085
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.15
    Marker Score: 784
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.13
    Marker Score: 2,682
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.06
    Marker Score: 257
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.05
    Marker Score: 6,366
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1
    Marker Score: 534
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,054
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1
    Marker Score: 376
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.94
    Marker Score: 292
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,347
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.91
    Marker Score: 240
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.91
    Marker Score: 1,717
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.86
    Marker Score: 1,395
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.8
    Marker Score: 1,334
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 682
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2,958
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.7
    Marker Score: 1,414
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.66
    Marker Score: 442
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.65
    Marker Score: 4,327
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.63
    Marker Score: 172
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.62
    Marker Score: 618
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.61
    Marker Score: 319
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.6
    Marker Score: 172
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.56
    Marker Score: 1,385
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.54
    Marker Score: 861
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.51
    Marker Score: 154
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.5
    Marker Score: 533
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5
    Marker Score: 230
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5
    Marker Score: 7,775
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.48
    Marker Score: 484
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.47
    Marker Score: 226
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.46
    Marker Score: 108
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.46
    Marker Score: 1,519
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.46
    Marker Score: 318
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.43
    Marker Score: 470
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.41
    Marker Score: 248
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4
    Marker Score: 293
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.4
    Marker Score: 381
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.39
    Marker Score: 161
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.36
    Marker Score: 272
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.36
    Marker Score: 98
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.35
    Marker Score: 131
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.34
    Marker Score: 852
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.32
    Marker Score: 86
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.32
    Marker Score: 140
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.31
    Marker Score: 596
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.3
    Marker Score: 79
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.29
    Marker Score: 64
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.29
    Marker Score: 77
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.29
    Marker Score: 290
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.28
    Marker Score: 82
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.28
    Marker Score: 299
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.27
    Marker Score: 388
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.27
    Marker Score: 1,002
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.27
    Marker Score: 70
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.27
    Marker Score: 297
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.25
    Marker Score: 65
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.25
    Marker Score: 109
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.25
    Marker Score: 189
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.24
    Marker Score: 77
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.24
    Marker Score: 138
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.24
    Marker Score: 75
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.23
    Marker Score: 94
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.23
    Marker Score: 130
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.22
    Marker Score: 133
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.22
    Marker Score: 147
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.21
    Marker Score: 200
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.2
    Marker Score: 48
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.2
    Marker Score: 214

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Subcellular localization**: PCK1 is primarily located in the cytosol of liver cells, where it is involved in gluconeogenesis. 2. **Enzymatic activity**: PCK1 catalyzes the conversion of oxaloacetate to phosphoenolpyruvate, a critical step in gluconeogenesis. 3. **Regulation**: PCK1 is regulated by various factors, including glucagon, insulin, and glucocorticoids, which are hormones that modulate glucose metabolism. 4. **Expression**: PCK1 is highly expressed in liver cells, particularly in the periportal region and centrilobular region of hepatocytes. **Pathways and Functions:** 1. **Gluconeogenesis**: PCK1 is a key enzyme in the gluconeogenic pathway, which generates glucose from non-carbohydrate sources. 2. **Glucose homeostasis**: PCK1 plays a critical role in maintaining glucose homeostasis by regulating gluconeogenesis and glycogen synthesis. 3. **Metabolic regulation**: PCK1 is involved in the regulation of various metabolic processes, including lipid metabolism, protein synthesis, and oxidative stress. 4. **Hormonal regulation**: PCK1 is regulated by various hormones, including glucagon, insulin, and glucocorticoids, which modulate glucose metabolism. **Clinical Significance:** 1. **Diabetes**: Abnormalities in PCK1 expression or function have been linked to diabetes, particularly type 2 diabetes. 2. **Fatty liver disease**: PCK1 is overexpressed in fatty liver disease, which is characterized by excessive fat accumulation in liver cells. 3. **Metabolic syndrome**: PCK1 is involved in the regulation of metabolic syndrome, a cluster of conditions that increase the risk of developing type 2 diabetes and cardiovascular disease. 4. **Cancer**: PCK1 is overexpressed in certain types of cancer, including hepatocellular carcinoma, which is linked to glucose metabolism and energy production. In conclusion, PCK1 is a critical enzyme involved in the regulation of gluconeogenesis and metabolic homeostasis. Abnormalities in PCK1 expression or function have been linked to various metabolic disorders, including diabetes and fatty liver disease. Further research is needed to understand the mechanisms by which PCK1 regulates glucose metabolism and to develop novel therapeutic strategies for the treatment of metabolic disorders.

Genular Protein ID: 1461498223

Symbol: PCKGC_HUMAN

Name: N/A

UniProtKB Accession Codes:

P35558 A8K437 B4DT64 Q8TCA3 Q9UJD2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 EC 1 EMBL 9 EPD 1 Ensembl 1 EvolutionaryTrace 1 GO 46 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 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 9 PDBsum 7 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 Rhea 7 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8490617

Title: cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young.

PubMed ID: 8490617

DOI: 10.1093/hmg/2.1.1

PubMed ID: 8325643

Title: Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.

PubMed ID: 8325643

DOI: 10.1006/geno.1993.1250

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 8547315

Title: Structural and functional analysis of the human phosphoenolpyruvate carboxykinase gene promoter.

PubMed ID: 8547315

DOI: 10.1016/0167-4781(95)00194-8

PubMed ID: 1656199

Title: Regulation of phosphoenolpyruvate carboxykinase (GTP) gene transcription.

PubMed ID: 1656199

PubMed ID: 20167786

Title: Regulation of cellular metabolism by protein lysine acetylation.

PubMed ID: 20167786

DOI: 10.1126/science.1179689

PubMed ID: 21726808

Title: Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase.

PubMed ID: 21726808

DOI: 10.1016/j.molcel.2011.04.028

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: 30193097

Title: Dynamic acetylation of phosphoenolpyruvate carboxykinase toggles enzyme activity between gluconeogenic and anaplerotic reactions.

PubMed ID: 30193097

DOI: 10.1016/j.molcel.2018.07.031

PubMed ID: 32322062

Title: The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.

PubMed ID: 32322062

DOI: 10.1038/s41586-020-2183-2

PubMed ID: 11851336

Title: Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.

PubMed ID: 11851336

DOI: 10.1006/jmbi.2001.5364

PubMed ID: 14552798

Title: X-ray structures of two xanthine inhibitors bound to PEPCK and N-3 modifications of substituted 1,8-dibenzylxanthines.

PubMed ID: 14552798

DOI: 10.1016/s0960-894x(03)00723-6

PubMed ID: 17532214

Title: C-8 Modifications of 3-alkyl-1,8-dibenzylxanthines as inhibitors of human cytosolic phosphoenolpyruvate carboxykinase.

PubMed ID: 17532214

DOI: 10.1016/j.bmcl.2007.05.013

PubMed ID: 24863970

Title: Three rare diseases in one sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PubMed ID: 24863970

DOI: 10.1016/j.ymgme.2014.04.001

PubMed ID: 26971250

Title: Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

PubMed ID: 26971250

DOI: 10.1016/j.ymgme.2016.03.001

PubMed ID: 28216384

Title: Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

PubMed ID: 28216384

DOI: 10.1016/j.ymgme.2017.02.003

Sequence Information:

  • Length: 622
  • Mass: 69195
  • Checksum: 78D309E0845CC181
  • Sequence:
    • MPPQLQNGLN LSAKVVQGSL DSLPQAVREF LENNAELCQP DHIHICDGSE EENGRLLGQM 
EEEGILRRLK KYDNCWLALT DPRDVARIES KTVIVTQEQR DTVPIPKTGL SQLGRWMSEE 
DFEKAFNARF PGCMKGRTMY VIPFSMGPLG SPLSKIGIEL TDSPYVVASM RIMTRMGTPV 
LEAVGDGEFV KCLHSVGCPL PLQKPLVNNW PCNPELTLIA HLPDRREIIS FGSGYGGNSL 
LGKKCFALRM ASRLAKEEGW LAEHMLILGI TNPEGEKKYL AAAFPSACGK TNLAMMNPSL 
PGWKVECVGD DIAWMKFDAQ GHLRAINPEN GFFGVAPGTS VKTNPNAIKT IQKNTIFTNV 
AETSDGGVYW EGIDEPLASG VTITSWKNKE WSSEDGEPCA HPNSRFCTPA SQCPIIDAAW 
ESPEGVPIEG IIFGGRRPAG VPLVYEALSW QHGVFVGAAM RSEATAAAEH KGKIIMHDPF 
AMRPFFGYNF GKYLAHWLSM AQHPAAKLPK IFHVNWFRKD KEGKFLWPGF GENSRVLEWM 
FNRIDGKAST KLTPIGYIPK EDALNLKGLG HINMMELFSI SKEFWEKEVE DIEKYLEDQV 
NADLPCEIER EILALKQRIS QM

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.