Seroatlas · Human Serome Atlas

G6PC3

Glucose-6-phosphatase 3

Also known as: G6PC3_HUMAN, UGRP

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

Protein identityUniProt · HPA

UniProt accession: Q9BUM1
Gene: G6PC3
Ensembl: ENSG00000141349
Chromosome: 17
Canonical length: 346 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

346 residues, UniProt reviewed canonical sequence.

>Q9BUM1|G6PC3
     1  MESTLGAGIV IAEALQNQLA WLENVWLWIT FLGDPKILFL FYFPAAYYAS RRVGIAVLWI
    61  SLITEWLNLI FKWFLFGDRP FWWVHESGYY SQAPAQVHQF PSSCETGPGS PSGHCMITGA
   121  ALWPIMTALS SQVATRARSR WVRVMPSLAY CTFLLAVGLS RIFILAHFPH QVLAGLITGA
   181  VLGWLMTPRV PMERELSFYG LTALALMLGT SLIYWTLFTL GLDLSWSISL AFKWCERPEW
   241  IHVDSRPFAS LSRDSGAALG LGIALHSPCY AQVRRAQLGN GQKIACLVLA MGLLGPLDWL
   301  GHPPQISLFY IFNFLKYTLW PCLVLALVPW AVHMFSAQEA PPIHSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against G6PC3 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): 0.25
Highest tissue expression: 140 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 140 nTPM
hypothalamus: 91 nTPM
adrenal gland: 90 nTPM
pituitary gland: 90 nTPM
spinal cord: 82 nTPM
midbrain: 80 nTPM

Single-cell type

epicardial cells: 205 nCPM
syncytiotrophoblasts: 84 nCPM
cytotrophoblasts: 78 nCPM
epididymal principal cells: 78 nCPM
hofbauer cells: 73 nCPM
cardiomyocytes: 73 nCPM

Immune cell

plasmacytoid DC: 75 nTPM
myeloid DC: 54 nTPM
intermediate monocyte: 44 nTPM
classical monocyte: 33 nTPM
non-classical monocyte: 27 nTPM
total PBMC: 17 nTPM

Brain region

pons: 94 nTPM
choroid plexus: 85 nTPM
midbrain: 72 nTPM
hypothalamus: 61 nTPM
white matter: 55 nTPM
medulla oblongata: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about G6PC3.

Disease | AllUniProt

Conditions G6PC3 is implicated in, by any mechanism.

Neutropenia, severe congenital 4, autosomal recessive (SCN4) MIM:612541
Dursun syndrome (DURSS) MIM:612541

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 716 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Inherited Immunodeficiency Diseases
G6PC3-related disorder

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): 1.03
gnomAD pLI: 0
gnomAD missense Z: 0.7
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

glucose-6-phosphatase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads G6PC3 as an antibody target. Whether an autoantibody or antibody against G6PC3 could matter depends on whether native G6PC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

G6PC3 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 G6PC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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