TRPT1 (tRNA phosphotransferase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 83707
Gene name TRNA phosphotransferase 1
Gene symbol TRPT1
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q13.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000215 Function TRNA 2'-phosphotransferase activity IBA
GO:0000215 Function TRNA 2'-phosphotransferase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0006388 Process TRNA splicing, via endonucleolytic cleavage and ligation IBA
GO:0006388 Process TRNA splicing, via endonucleolytic cleavage and ligation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610470 20316 ENSG00000149743
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TN4
Protein name tRNA 2'-phosphotransferase 1 (EC 2.7.1.160)
Protein function Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate.
PDB 7YW3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01885 PTS_2-RNA 26 → 203 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Weakly or not expressed in lung, spleen, small intestine and peripheral blood leukocytes. {ECO:0000269|PubMed:14504659}.
Sequence
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations