QTRT1 (queuine tRNA-ribosyltransferase catalytic subunit 1)

Gene

• Entrez ID: 81890
• Gene name: Queuine tRNA-ribosyltransferase catalytic subunit 1
• Gene symbol: QTRT1
• Synonyms (NCBI Gene): FP3235, TGT, TGUT
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRN

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048956	hsa-miR-92a-3p	CLASH	23622248
MIRT621253	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT621252	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621251	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT621250	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT621249	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT621248	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT621247	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT621253	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT621252	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621251	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT621250	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT621249	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT621248	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT621247	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT2082811	hsa-miR-1470	CLIP-seq
MIRT2082812	hsa-miR-150	CLIP-seq
MIRT2082813	hsa-miR-4287	CLIP-seq
MIRT2082814	hsa-miR-4469	CLIP-seq
MIRT2082815	hsa-miR-4667-3p	CLIP-seq
MIRT2082816	hsa-miR-4685-3p	CLIP-seq
MIRT2082817	hsa-miR-4713-5p	CLIP-seq
MIRT2082818	hsa-miR-532-3p	CLIP-seq
MIRT2082819	hsa-miR-642a	CLIP-seq
MIRT2082811	hsa-miR-1470	CLIP-seq
MIRT2082812	hsa-miR-150	CLIP-seq
MIRT2082813	hsa-miR-4287	CLIP-seq
MIRT2082814	hsa-miR-4469	CLIP-seq
MIRT2082815	hsa-miR-4667-3p	CLIP-seq
MIRT2082816	hsa-miR-4685-3p	CLIP-seq
MIRT2082817	hsa-miR-4713-5p	CLIP-seq
MIRT2308149	hsa-miR-4749-3p	CLIP-seq
MIRT2082818	hsa-miR-532-3p	CLIP-seq
MIRT2082819	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002099	Process	TRNA wobble guanine modification	IDA	20354154, 34241577
GO:0002099	Process	TRNA wobble guanine modification	TAS	11255023
GO:0005515	Function	Protein binding	IPI	20354154
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	NAS	19414587
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006400	Process	TRNA modification	IDA	16424344, 37992713
GO:0006400	Process	TRNA modification	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0008479	Function	TRNA-guanosine(34) queuine transglycosylase activity	IBA
GO:0008479	Function	TRNA-guanosine(34) queuine transglycosylase activity	IDA	20354154, 34241577
GO:0008479	Function	TRNA-guanosine(34) queuine transglycosylase activity	IEA
GO:0008479	Function	TRNA-guanosine(34) queuine transglycosylase activity	TAS	11255023
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0032473	Component	Cytoplasmic side of mitochondrial outer membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	20354154
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	20354154
GO:0120507	Component	TRNA-guanine transglycosylase complex	IPI	20354154
GO:1990234	Component	Transferase complex	IPI	20354154

Other IDs

• MIM: 609615
• HGNC: 23797
• e!Ensembl: ENSG00000213339

Protein

• UniProt ID: Q9BXR0
• Protein name: Queuine tRNA-ribosyltransferase catalytic subunit 1 (EC 2.4.2.64) (Guanine insertion enzyme) (tRNA-guanine transglycosylase)
• Protein function: Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr),
• PDB: 6H42, 6H45, 7NQ4, 8OMR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01702	TGT	23 → 382	Queuine tRNA-ribosyltransferase	Family

• Sequence:

  MAGAATQASLESAPRIMRLVAECSRSRARAGELWLPHGTVATPVFMPVGTQATMKGITTE
  QLDALGCRICLGNTYHLGLRPGPELIQKANGLHGFMNWPHNLLTDSGGFQMVSLVSLSEV
  TEEGVRFRSPYDGNETLLSPEKSVQIQNALGSDIIMQLDDVVSSTVTGPRVEEAMYRSIR
  WLDRCIAAHQRPDKQNLFAIIQGGLDADLRATCLEEMTKRDVPGFAIGGLSGGESKSQFW
  RMVALSTSRLPKDKPRYLMGVGYATDLVVCVALGCDMFDCVFPTRTARFGSALVPTGNLQ
  LRKKVFEKDFGPIDPECTCPTCQKHSRAFLHALLHSDNTAALHHLTVHNIAYQLQLMSAV
  RTSIVEKRFPDFVRDFMGAMYGDPTLCPTWATDALASVGITLG

• Sequence length: 403

Pathways

Reactome:

tRNA modification in the nucleus and cytosol

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33633844	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29748526		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29748526	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11134952	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11940046		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15767331		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24331409		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33633844	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	15324320		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27990849	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	9514049		★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	8397797		★☆☆☆☆ Found in Text Mining only
Hypodysfibrinogenemia	Hypodysfibrinogenemia	BEFREE	28419986		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	11828340		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31703587		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11134952	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24867713		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10646897		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29748526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15767331		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28204548, 29862811		★☆☆☆☆ Found in Text Mining only
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	BEFREE	19658153		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14760087, 20740637, 8514605		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	19169048		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	7961102	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	11708864		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	22576020		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	BEFREE	16386935		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10426588		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	23143594, 25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	23143594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	28419986		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	15324320		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	27990849		★☆☆☆☆ Found in Text Mining only