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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRWD1
glutamate rich WD repeat containing 1
Chromosome 19 Β· 19q13.33
NCBI Gene: 83743Ensembl: ENSG00000105447.14HGNC: HGNC:21270UniProt: Q9BQ67
150PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatin bindingDNA replication origin bindingRNA bindingprotein bindingneurodegenerative diseasediarrhea 14, congenitalcongenital diarrheaprostate cancer
✦AI Summary

GRWD1 (glutamate-rich WD repeat containing 1) is a multifunctional chr19 regulator and histone-binding protein with critical roles in both normal cellular processes and cancer development. In normal physiology, GRWD1 regulates chr19 dynamics and facilitates loading of the minichromosome maintenance (MCM) complex at replication origins, likely by promoting chr19 openness 1. It also plays a role in ribosomal biogenesis and nucleolar function 2. Mechanistically, GRWD1 functions as a negative regulator of the tumor suppressor p53 through multiple pathways. It physically interacts with ribosomal protein L11 (RPL11), disrupting the RPL11-MDM2 interaction and thereby alleviating MDM2 inhibition, which promotes p53 ubiquitination and degradation 3. GRWD1 additionally suppresses RPL23, another p53 regulator, via ubiquitin-proteasome degradation in cooperation with E3 ligase EDD 4. Recent evidence reveals GRWD1 also directly binds and suppresses p53 transcriptional activity 5. Clinically, GRWD1 overexpression is associated with oncogenic transformation and poor cancer prognosis across multiple tumor types. It promotes aerobic glycolysis in colorectal cancer through IL-6/STAT3-mediated upregulation 6, regulates H3K4me3 marks via interaction with the WDR5-MLL2 complex in KSHV-induced transformation 7, and drives triple-negative breast cancer progression via Notch signaling 8. Conversely, GRWD1 loss-of-function variants cause congenital diarrhea and enteropathy 9, highlighting its essential role in intestinal homeostasis.

Sources cited
1
GRWD1 is a histone-binding protein that regulates chromatin dynamics and MCM complex loading at replication origins
PMID: 25990725
2
GRWD1 plays a role in ribosomal biogenesis
PMID: 15885502
3
GRWD1 negatively regulates p53 by disrupting the RPL11-MDM2 interaction and promoting p53 degradation
PMID: 27856536
4
GRWD1 downregulates RPL23 protein levels via ubiquitin-proteasome degradation in cooperation with E3 ligase EDD
PMID: 29991511
5
GRWD1 directly interacts with p53 and suppresses its transcriptional activity
PMID: 35171268
6
GRWD1 is upregulated by IL-6/STAT3 signaling in colorectal cancer and promotes aerobic glycolysis via p53/GLUT1 axis
PMID: 41022893
7
GRWD1 interacts with WDR5 and MLL2 to regulate H3K4me3 epigenetic marks and is essential for KSHV-induced cellular transformation
PMID: 34933446
8
GRWD1 promotes triple-negative breast cancer progression through the Notch signaling pathway
PMID: 35761807
9
GRWD1 loss-of-function variants cause congenital diarrhea and enteropathy (CODE)
PMID: 40174224
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.47Moderate
diarrhea 14, congenitalOpen Targets
0.42Moderate
congenital diarrheaOpen Targets
0.33Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
colon carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
Testicular Germ Cell TumorOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
metastatic neoplasmOpen Targets
0.01Suggestive
Diarrhea 14, congenitalUniProt
Pathogenic Variants2
NM_031485.4(GRWD1):c.920A>G (p.His307Arg)Likely pathogenic
Diarrhea 14, congenital|Congenital diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 307
NM_031485.4(GRWD1):c.1102G>T (p.Val368Phe)Likely pathogenic
Diarrhea 14, congenital|Congenital diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 368
View on ClinVar β†—
Related Genes
UTP4Protein interaction100%WDR46Protein interaction100%BYSLProtein interaction100%NOC4LProtein interaction100%TBL3Protein interaction100%WDR36Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
76%
Lung
72%
Bone Marrow
65%
Heart
58%
Brain
39%
Gene Interaction Network
Click a node to explore
GRWD1UTP4WDR46BYSLNOC4LTBL3WDR36
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BQ67
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.47–0.86]
RankingsWhere GRWD1 stands among ~20K protein-coding genes
  • #3,018of 20,598
    Most Researched150 Β· top quartile
  • #4,270of 5,498
    Most Pathogenic Variants2
  • #7,541of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedGRWD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
PMID: 40174224
N Engl J Med Β· 2025
1.00
2
GRWD1, a new player among oncogenesis-related ribosomal/nucleolar proteins.
PMID: 28722511
Cell Cycle Β· 2017
0.90
3
IL6/STAT3 induced GRWD1 mediates aerobic glycolysis via P53/GLUT1 signal axis in colon carcinoma.
PMID: 41022893
Sci Rep Β· 2025
0.80
4
GRWD1 negatively regulates p53 via the RPL11-MDM2 pathway and promotes tumorigenesis.
PMID: 27856536
EMBO Rep Β· 2017
0.70
5
GRWD1-WDR5-MLL2 Epigenetic Complex Mediates H3K4me3 Mark and Is Essential for Kaposi's Sarcoma-Associated Herpesvirus-Induced Cellular Transformation.
PMID: 34933446
mBio Β· 2021
0.60