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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DRG1
developmentally regulated GTP binding protein 1
Chromosome 22 Β· 22q12.2
NCBI Gene: 4733Ensembl: ENSG00000185721.15HGNC: HGNC:3029UniProt: Q9Y295
167PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTPase activityprotein bindingcytosolmembraneTan-Almurshedi syndromeFlexion contractureNeurodevelopmental disorderbreast cancer
✦AI Summary

DRG1 (developmentally regulated GTP binding protein 1) is a highly conserved GTPase that plays critical roles in protein translation and cellular development. The protein catalyzes GTP hydrolysis to GDP, with its intrinsic GTPase activity being stimulated by ZC3H15/DFRP1 binding 1. DRG1 functions as a translation factor, with hydroxylation at lysine-22 by JMJD7 enabling RNA binding and translational regulation 2. Beyond translation, DRG1 binds microtubules and promotes their polymerization and stability, which is essential for mitotic spindle assembly during cell division, independent of its GTPase activity 3. DRG1 exhibits tumor suppressor properties, with low expression levels associated with breast cancer metastasis and poor survival outcomes 4. Loss-of-function mutations in DRG1 cause Tan-Almurshedi syndrome, a recessive neurodevelopmental disorder characterized by global developmental delay, primary microcephaly, short stature, and craniofacial anomalies 1. The protein's evolutionary conservation from sponges to humans, along with mouse knockout studies showing preweaning lethality, underscores its fundamental importance in cellular processes and mammalian development 31.

Sources cited
1
DRG1 catalyzes GTP hydrolysis and loss-of-function mutations cause neurodevelopmental disorder
PMID: 37179472
2
DRG1 functions in protein translation regulation through interaction with CARDINAL lncRNA
PMID: 38743498
3
DRG1 binds microtubules and promotes spindle assembly, with evolutionary conservation from sponges to humans
PMID: 35790840
4
Low DRG1 expression is associated with breast cancer metastasis and poor survival
PMID: 24213460
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Tan-Almurshedi syndromeOpen Targets
0.54Moderate
Flexion contractureOpen Targets
0.26Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
breast cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Salivary Gland Pleomorphic AdenomaOpen Targets
0.04Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
van der Woude syndromeOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
thrombocytopenia with congenital dyserythropoietic anemiaOpen Targets
0.03Suggestive
Rh deficiency syndromeOpen Targets
0.03Suggestive
X-linked dyserythropoetic anemia with abnormal platelets and neutropeniaOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
Tan-Almurshedi syndromeUniProt
Pathogenic Variants5
NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)Likely pathogenic
Tan-Almurshedi syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 54
NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)Likely pathogenic
Tan-Almurshedi syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 248
NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)Likely pathogenic
Tan-Almurshedi syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 263
NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)Likely pathogenic
Tan-Almurshedi syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 140
NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)Likely pathogenic
Flexion contracture
β˜†β˜†β˜†β˜†β†’ Residue 40
View on ClinVar β†—
Related Genes
RPLP0Protein interaction100%RPS3Protein interaction100%RPS13Protein interaction100%RPL7Protein interaction100%RPL18Protein interaction100%RPS21Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Bone Marrow
62%
Ovary
60%
Liver
58%
Lung
50%
Gene Interaction Network
Click a node to explore
DRG1RPLP0RPS3RPS13RPL7RPL18RPS21
PROTEIN STRUCTURE
Preparing viewer…
PDB2EKI Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.48 [0.33–0.70]
RankingsWhere DRG1 stands among ~20K protein-coding genes
  • #2,669of 20,598
    Most Researched167 Β· top quartile
  • #3,492of 5,498
    Most Pathogenic Variants5
  • #5,304of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedDRG1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The long noncoding RNA CARDINAL attenuates cardiac hypertrophy by modulating protein translation.
PMID: 38743498
J Clin Invest Β· 2024
1.00
2
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep Β· 2022
0.90
3
Structure and function of cancer-related developmentally regulated GTP-binding protein 1 (DRG1) is conserved between sponges and humans.
PMID: 35790840
Sci Rep Β· 2022
0.80
4
Serine/Threonine Protein Kinase STK16.
PMID: 30974739
Int J Mol Sci Β· 2019
0.70
5
m6A-dependent up-regulation of DRG1 by METTL3 and ELAVL1 promotes growth, migration, and colony formation in osteosarcoma.
PMID: 32266933
Biosci Rep Β· 2020
0.68