Gene Gene information from NCBI Gene database.
Entrez ID 9567
Gene name GTP binding protein 1
Gene symbol GTPBP1
Synonyms (NCBI Gene)
GP-1GP1HSPC018NEDFET1
Chromosome 22
Chromosome location 22q13.1
Summary This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable
miRNA miRNA information provided by mirtarbase database.
769
miRTarBase ID miRNA Experiments Reference
MIRT027163 hsa-miR-103a-3p Sequencing 20371350
MIRT031922 hsa-miR-16-5p Sequencing 20371350
MIRT048537 hsa-miR-100-5p CLASH 23622248
MIRT043448 hsa-miR-331-3p CLASH 23622248
MIRT041906 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IDA 30108131
GO:0000166 Function Nucleotide binding IEA
GO:0000177 Component Cytoplasmic exosome (RNase complex) IEA
GO:0000177 Component Cytoplasmic exosome (RNase complex) ISS
GO:0002181 Process Cytoplasmic translation IDA 30108131
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602245 4669 ENSG00000100226
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00178
Protein name GTP-binding protein 1 (G-protein 1) (GP-1) (GP1)
Protein function Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 160 385 Elongation factor Tu GTP binding domain Domain
Sequence
MATERSRSAMDSPVPASMFAPEPSSPGAARAAAAAARLHGGFDSDCSEDGEALNGEPELD
LTSKLVLVSPTSEQYDSLLRQMWERMDEGCGETIYVIGQGSDGTEYGLSEADMEASYATV
KSMAEQIEADVILLRERQEAGGRVRDYLVRKRVGDNDFLEVRVAVVGNVDAGKSTLLGVL
THGELDNGRGFARQKLFRHKHEIESGRTSSVGNDILGFDSEGNVVNKPDSHGGSLEWTKI
CEKSTKVITFIDLAGHEKYLKTTVFGMTGHLPDFCMLMVGSNAGIVGMTKEHLGLALALN
VPVFVVVTKIDMCPANILQETLKLLQRLLKSPGCRKIPVLVQSKDDVIVTASNFSSERMC
PIFQISNVTGENLDLLKMFLNLLSP
RTSYREEEPAEFQIDDTYSVPGVGTVVSGTTLRGL
IKLNDTLLLGPDPLGNFLSIAVKSIHRKRMPVKEVRGGQTASFALKKIKRSSIRKGMVMV
SPRLNPQASWEFEAEILVLHHPTTISPRYQAMVHCGSIRQTATILSMDKDCLRTGDKATV
HFRFIKTPEYLHIDQRLVFREGRTKAVGTITKLLQTTNNSPMNSKPQQIKMQSTKKGPLT
KRDEGGPSGGPAVGAPPPGDEASSVGAGQPAASSNLQPQPKPSSGGRRRGGQRHKVKSQG
ACVTPASGC
Sequence length 669
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 ClinVar, GWAS catalog, HPO
ClinVar, GWAS catalog, HPO
★★☆☆☆
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 GWASDB_DG 23587638
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35440542 Associate
★☆☆☆☆
Found in Text Mining only
Diverticular Bleeding Diverticular Bleeding CTD_human_DG 30177863
★☆☆☆☆
Found in Text Mining only
Diverticular Diseases Diverticular Diseases GWASCAT_DG 30177863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diverticular Diseases Diverticular Diseases CTD_human_DG 30177863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ischemic stroke Ischemic Stroke BEFREE 16118501
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 17659677
★☆☆☆☆
Found in Text Mining only
Polyendocrinopathies, Autoimmune Autoimmune Polyendocrinopathy BEFREE 29620217
★☆☆☆☆
Found in Text Mining only
Protein C Deficiency Protein C Deficiency BEFREE 1509404
★☆☆☆☆
Found in Text Mining only
Thrombophilia Thrombophilia BEFREE 1509404
★☆☆☆☆
Found in Text Mining only