Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4733
Gene name Gene Name - the full gene name approved by the HGNC.
Developmentally regulated GTP binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DRG1
Synonyms (NCBI Gene) Gene synonyms aliases
NEDD3, TANALS
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603952 3029 ENSG00000185721
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital finger flexion contractures Flexion contracture rs1391978939 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease 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