Gene Gene information from NCBI Gene database.
Entrez ID 4733
Gene name Developmentally regulated GTP binding protein 1
Gene symbol DRG1
Synonyms (NCBI Gene)
NEDD3TANALS
Chromosome 22
Chromosome location 22q12.2
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1391978939 C>G,T Likely-pathogenic Stop gained, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
100
miRTarBase ID miRNA Experiments Reference
MIRT025534 hsa-miR-34a-5p Proteomics 21566225
MIRT040743 hsa-miR-455-5p CLASH 23622248
MIRT040480 hsa-miR-605-5p CLASH 23622248
MIRT040302 hsa-miR-615-3p CLASH 23622248
MIRT945375 hsa-miR-1273e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002181 Process Cytoplasmic translation IBA
GO:0003924 Function GTPase activity IDA 23711155, 29915238
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 16189514, 18184589, 19819225, 21516116, 25416956, 25944354, 28514442, 29915238, 31324722, 32296183, 33961781, 35156780, 35271311, 36012204
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603952 3029 ENSG00000185721
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y295
Protein name Developmentally-regulated GTP-binding protein 1 (DRG-1) (Neural precursor cell expressed developmentally down-regulated protein 3) (NEDD-3) (Translation factor GTPase DRG1) (TRAFAC GTPase DRG1) (EC 3.6.5.-)
Protein function Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP (PubMed:23711155, PubMed:29915238, PubMed:37179472). Appears to have an intrinsic GTPase activity that is stimulated by ZC3H15/DFRP1 binding likely by i
PDB 2EKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01926 MMR_HSR1 66 183 50S ribosome-binding GTPase Family
PF16897 MMR_HSR1_Xtn 186 291 C-terminal region of MMR_HSR1 domain Family
PF02824 TGS 292 366 TGS domain Domain
Tissue specificity TISSUE SPECIFICITY: High levels in skeletal muscle, heart, and kidney. Intermediate levels in liver, placenta and brain. Low levels in colon, thymus, spleen, small intestine, lung and leukocytes. {ECO:0000269|PubMed:10760581}.
Sequence
Sequence length 367
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Flexion contracture Likely pathogenic rs1391978939 RCV001007813
Tan-Almurshedi syndrome Likely pathogenic rs2518503242, rs2517548621, rs1459583728 RCV003447450
RCV003447452
RCV003447453
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs2049955711 RCV001262401
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 27626498
Carcinogenesis Associate 27626498
Cell Transformation Neoplastic Associate 32266933
Melanoma Associate 25993655
Neoplasms Associate 18288642, 19622774, 27626498
Neoplasms Stimulate 32266933
Neoplastic Syndromes Hereditary Associate 15247272
Obesity Associate 25379721
Osteosarcoma Associate 32266933
Prostatic Neoplasms Associate 15247272, 19622774