Gene Gene information from NCBI Gene database.
Entrez ID 2935
Gene name G1 to S phase transition 1
Gene symbol GSPT1
Synonyms (NCBI Gene)
551G9.2ETF3AGST1eRF3a
Chromosome 16
Chromosome location 16p13.13
miRNA miRNA information provided by mirtarbase database.
822
miRTarBase ID miRNA Experiments Reference
MIRT032238 hsa-let-7b-5p Proteomics 18668040
MIRT047129 hsa-miR-183-5p CLASH 23622248
MIRT044090 hsa-miR-361-5p CLASH 23622248
MIRT282792 hsa-miR-383-3p HITS-CLIP 23824327
MIRT632867 hsa-miR-485-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CDX2 Unknown 22580340
SP1 Unknown 22580340
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 2511002
GO:0000166 Function Nucleotide binding IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 15326224
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139259 4621 ENSG00000103342
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15170
Protein name Eukaryotic peptide chain release factor GTP-binding subunit ERF3A (Eukaryotic peptide chain release factor subunit 3a) (eRF3a) (EC 3.6.5.-) (G1 to S phase transition protein 1 homolog)
Protein function GTPase component of the eRF1-eRF3-GTP ternary complex, a ternary complex that mediates translation termination in response to the termination codons UAA, UAG and UGA (PubMed:15987998, PubMed:19417105, PubMed:2511002, PubMed:27863242). GSPT1/ERF3
PDB 3E1Y , 3J5Y , 3KUI , 4D61 , 5HXB , 5LZT , 6XK9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 72 351 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 314 381 Elongation factor Tu domain 2 Domain
PF03143 GTP_EFTU_D3 387 495 Elongation factor Tu C-terminal domain Domain
Sequence
Sequence length 499
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway   Eukaryotic Translation Termination
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 39252332 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 21109554
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19424636, 22101789
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18485221, 19424636, 39940786 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 15917414 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 15917414
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29412865, 8103989
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 7781744
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26349975
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37286944 Associate
★☆☆☆☆
Found in Text Mining only