Seroatlas · Human Serome Atlas

G6PC1

Glucose-6-phosphatase catalytic subunit 1

Also known as: G6PC, G6PC1_HUMAN, G6PT, GSD1a

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

Protein identityUniProt · HPA

UniProt accession
P35575
Gene
G6PC1
Ensembl
ENSG00000131482
Chromosome
17
Canonical length
357 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Mid piece

OverviewNCBI Gene

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

357 residues, UniProt reviewed canonical sequence.

>P35575|G6PC1
     1  MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW FHLQEAVGIK
    61  LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP LIKQFPVTCE TGPGSPSGHA
   121  MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ
   181  VVAGVLSGIA VAETFSHIHS IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK
   241  AQRWCEQPEW VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV
   301  ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG QPHKKSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against G6PC1 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
Other membrane
Secreted
No
Transmembrane segments
9
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
254 nTPM

Expression across tissuesHPA

Tissue

  • liver: 254 nTPM
  • kidney: 70 nTPM
  • small intestine: 28 nTPM
  • duodenum: 19 nTPM
  • gallbladder: 3.8 nTPM
  • bone marrow: 0.4 nTPM

Single-cell type

  • hepatocytes: 466 nCPM
  • enterocytes: 443 nCPM
  • proximal tubule cells: 100 nCPM
  • paneth cells: 62 nCPM
  • cholangiocytes: 48 nCPM
  • goblet cells: 3.9 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • naive B-cell: 0.2 nTPM
  • memory B-cell: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • white matter: 2.7 nTPM
  • cerebellum: 2.6 nTPM
  • choroid plexus: 2.4 nTPM
  • medulla oblongata: 2.4 nTPM
  • cerebral cortex: 2.3 nTPM
  • thalamus: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about G6PC1.

Disease | AllUniProt

Conditions G6PC1 is implicated in, by any mechanism.

Disease | GeneticClinVar

171 pathogenic / likely-pathogenic of 619 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on G6PC1 was assayed in.

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)
1.01
gnomAD pLI
0
DepMap mean gene effect
-0.09
DepMap dependency class
selective

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 G6PC1 as an antibody target. Whether an autoantibody or antibody against G6PC1 could matter depends on whether native G6PC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

G6PC1 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 G6PC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/G6PC1. 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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