Seroatlas · Human Serome Atlas

GCHFR

GTP cyclohydrolase 1 feedback regulatory protein

Also known as: GFRP, GFRP_HUMAN, HsT16933

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

Protein identityUniProt · HPA

UniProt accession: P30047
Gene: GCHFR
Ensembl: ENSG00000137880
Chromosome: 15
Canonical length: 84 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodecamer

OverviewNCBI Gene

GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

84 residues, UniProt reviewed canonical sequence.

>P30047|GCHFR
     1  MPYLLISTQI RMEVGPTMVG DEQSDPELMQ HLGASKRRAL GNNFYEYYVD DPPRIVLDKL
    61  ERRGFRVLSM TGVGQTLVWC LHKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GCHFR 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): 0.34
Highest tissue expression: 366 nTPM

Expression across tissuesHPA

Tissue

liver: 366 nTPM
kidney: 79 nTPM
esophagus: 59 nTPM
small intestine: 57 nTPM
lung: 49 nTPM
choroid plexus: 45 nTPM

Single-cell type

esophageal apical cells: 1,796 nCPM
hepatocytes: 919 nCPM
enterocytes: 553 nCPM
epididymal efferent duct absorptive cells: 297 nCPM
breast lactating cells: 256 nCPM
parietal cells: 214 nCPM

Immune cell

T-reg: 145 nTPM
NK-cell: 133 nTPM
MAIT T-cell: 129 nTPM
total PBMC: 109 nTPM
eosinophil: 103 nTPM
plasmacytoid DC: 91 nTPM

Brain region

midbrain: 127 nTPM
pons: 55 nTPM
choroid plexus: 24 nTPM
cerebellum: 21 nTPM
thalamus: 19 nTPM
medulla oblongata: 17 nTPM

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): 1.69
gnomAD pLI: 0.05
gnomAD missense Z: 0.33
DepMap mean gene effect: -0.06
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

enzyme inhibitor activity
GTP cyclohydrolase binding
GTP cyclohydrolase I regulator activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

GTP cyclohydrolase I, feedback regulatory protein
GFRP superfamily
GTP cyclohydrolase I feedback regulatory protein (GFRP)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GCHFR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

GCH1

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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