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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GRHL1
grainyhead like transcription factor 1
Chromosome 2 · 2p25.1
NCBI Gene: 29841Ensembl: ENSG00000134317.18HGNC: HGNC:17923UniProt: Q9NZI5
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of DNA-templated transcriptiontranscription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor bindingprostate carcinomabasal cell carcinomaprostate cancerbreast carcinoma
✦AI Summary

GRHL1 (grainyhead like transcription factor 1) is a transcription factor that plays diverse roles in cellular differentiation, development, and disease. In normal physiology, GRHL1 functions as a pro-differentiation factor that is activated by glucose binding, which enables IRF6 dimerization and subsequent induction of GRHL1 and other differentiation-promoting transcription factors during epidermal development 1. The protein exhibits context-dependent tumor suppressor or oncogenic functions. In neuroblastoma, GRHL1 acts as a tumor suppressor, with high expression correlating with favorable patient survival and inhibiting proliferation and colony formation 2. MYCN and HDAC3 negatively regulate GRHL1 transcription in neuroblastoma cells 2. Conversely, in lung cancer, GRHL1 promotes cell cycle progression by upregulating cell cycle-related genes through direct transcriptional activation 3. EGFR-ERK signaling activates GRHL1 via phosphorylation at Ser76, promoting its nuclear translocation in lung cancer cells 3. GRHL1 also serves as a potential biomarker, with elevated circulating levels showing predictive value for non-small-cell lung cancer detection in elderly patients 4. Additionally, GRHL1 gene rearrangements, particularly FOXK1::GRHL1/2 and GPS2::GRHL1/2/3 fusions, represent oncogenic drivers in trichogerminoma 5. In placental tissue, GRHL1 functions as a hub gene in networks associated with fetal growth regulation 6.

Sources cited
1
GRHL1 is induced by glucose-enabled IRF6 dimerization during epidermal differentiation
PMID: 40120584
2
GRHL1 acts as tumor suppressor in neuroblastoma and is repressed by MYCN and HDAC3
PMID: 24419085
3
GRHL1 promotes cell cycle progression in lung cancer via EGFR-ERK phosphorylation at Ser76
PMID: 33931584
4
Circulating GRHL1 serves as biomarker for NSCLC detection in elderly patients
PMID: 38235564
5
GRHL1 gene fusions are oncogenic drivers in trichogerminoma
PMID: 35049062
6
GRHL1 is a hub gene in placental networks associated with fetal growth regulation
PMID: 28693416
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.45Moderate
basal cell carcinomaOpen Targets
0.36Weak
prostate cancerOpen Targets
0.36Weak
breast carcinomaOpen Targets
0.36Weak
skin cancerOpen Targets
0.31Weak
male infertilityOpen Targets
0.28Weak
nephrotic syndromeOpen Targets
0.19Weak
irritable bowel syndromeOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
hypotrichosis simplexOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
Alopecia universalisOpen Targets
0.07Suggestive
hypotrichosis 1Open Targets
0.07Suggestive
erythrokeratodermia variabilisOpen Targets
0.07Suggestive
Graham Little-Piccardi-Lassueur syndromeOpen Targets
0.07Suggestive
hypotrichosis 4Open Targets
0.07Suggestive
wooly hair, autosomal recessive 3Open Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
monilethrix-1Open Targets
0.07Suggestive
Clouston syndromeOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LCE7AShared pathway100%KPLCEShared pathway100%KRTDAPShared pathway100%LCE3EShared pathway100%LCE2DShared pathway100%LCE2CShared pathway100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
100%
Lung
19%
Heart
7%
Brain
6%
Ovary
3%
Gene Interaction Network
Click a node to explore
GRHL1LCE7AKPLCEKRTDAPLCE3ELCE2DLCE2C
PROTEIN STRUCTURE
Preparing viewer…
PDB5MPH · 2.34 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.38–0.83]
RankingsWhere GRHL1 stands among ~20K protein-coding genes
  • #11,346of 20,598
    Most Researched33
  • #7,142of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedGRHL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Glucose modulates IRF6 transcription factor dimerization to enable epidermal differentiation.
PMID: 40120584
Cell Stem Cell · 2025
1.00
2
GRHL1 acts as tumor suppressor in neuroblastoma and is negatively regulated by MYCN and HDAC3.
PMID: 24419085
Cancer Res · 2014
0.90
3
Predictive value of blood biomarkers in elderly patients with non-small-cell lung cancer.
PMID: 38235564
Biomark Med · 2023
0.80
4
Recurrent FOXK1::GRHL and GPS2::GRHL fusions in trichogerminoma.
PMID: 35049062
J Pathol · 2022
0.70
5
TFCP2/TFCP2L1/UBP1 transcription factors in cancer.
PMID: 29410248
Cancer Lett · 2018
0.60