Seroatlas · Human Serome Atlas

PCK1

Phosphoenolpyruvate carboxykinase, cytosolic [GTP]

Also known as: PCKGC_HUMAN, PEPCK-C

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P35558
Gene
PCK1
Ensembl
ENSG00000124253
Chromosome
20
Canonical length
622 aa
Protein class
Citric acid cycle related proteins, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

622 residues, UniProt reviewed canonical sequence.

>P35558|PCK1
     1  MPPQLQNGLN LSAKVVQGSL DSLPQAVREF LENNAELCQP DHIHICDGSE EENGRLLGQM
    61  EEEGILRRLK KYDNCWLALT DPRDVARIES KTVIVTQEQR DTVPIPKTGL SQLGRWMSEE
   121  DFEKAFNARF PGCMKGRTMY VIPFSMGPLG SPLSKIGIEL TDSPYVVASM RIMTRMGTPV
   181  LEAVGDGEFV KCLHSVGCPL PLQKPLVNNW PCNPELTLIA HLPDRREIIS FGSGYGGNSL
   241  LGKKCFALRM ASRLAKEEGW LAEHMLILGI TNPEGEKKYL AAAFPSACGK TNLAMMNPSL
   301  PGWKVECVGD DIAWMKFDAQ GHLRAINPEN GFFGVAPGTS VKTNPNAIKT IQKNTIFTNV
   361  AETSDGGVYW EGIDEPLASG VTITSWKNKE WSSEDGEPCA HPNSRFCTPA SQCPIIDAAW
   421  ESPEGVPIEG IIFGGRRPAG VPLVYEALSW QHGVFVGAAM RSEATAAAEH KGKIIMHDPF
   481  AMRPFFGYNF GKYLAHWLSM AQHPAAKLPK IFHVNWFRKD KEGKFLWPGF GENSRVLEWM
   541  FNRIDGKAST KLTPIGYIPK EDALNLKGLG HINMMELFSI SKEFWEKEVE DIEKYLEDQV
   601  NADLPCEIER EILALKQRIS QM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.21
Highest tissue expression
644 nTPM

Expression across tissuesHPA

Tissue

  • liver: 644 nTPM
  • kidney: 404 nTPM
  • small intestine: 136 nTPM
  • duodenum: 104 nTPM
  • rectum: 75 nTPM
  • adipose tissue: 56 nTPM

Single-cell type

  • enterocytes: 2,117 nCPM
  • hepatocytes: 1,464 nCPM
  • colonocytes: 724 nCPM
  • epididymal efferent duct absorptive cells: 295 nCPM
  • enteric transient amplifying cells: 271 nCPM
  • enteric stem cells: 265 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 2.7 nTPM
  • hypothalamus: 2.4 nTPM
  • thalamus: 2.3 nTPM
  • midbrain: 1.3 nTPM
  • pons: 1.2 nTPM
  • amygdala: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCK1.

Disease | AllUniProt

Conditions PCK1 is implicated in, by any mechanism.

  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC) MIM:261680

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 312 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.29
gnomAD pLI
0
gnomAD missense Z
-0.04
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PCK1 as an antibody target. Whether an autoantibody or antibody against PCK1 could matter depends on whether native PCK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PCK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PCK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PCK1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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