Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54802
Gene name	TRNA isopentenyltransferase 1
Gene symbol	TRIT1
Synonyms (NCBI Gene)	COXPD35GRO1IPPTIPTIPTaseMOD5hGRO1
Chromosome	1
Chromosome location	1p34.2
Summary	This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during prot

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146838322	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs184469579	G>A,C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs536000212	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs1047420796	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, intron variant

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047047	hsa-miR-183-5p	CLASH	23622248
MIRT052858	hsa-miR-3615	CLASH	23622248
MIRT1456665	hsa-miR-377	CLIP-seq
MIRT1456666	hsa-miR-4468	CLIP-seq
MIRT1456667	hsa-miR-4643	CLIP-seq
MIRT1456668	hsa-miR-4660	CLIP-seq
MIRT1456669	hsa-miR-513a-3p	CLIP-seq
MIRT1456670	hsa-miR-646	CLIP-seq
MIRT1456669	hsa-miR-513a-3p	CLIP-seq
MIRT2357650	hsa-miR-197	CLIP-seq
MIRT2357651	hsa-miR-4774-5p	CLIP-seq
MIRT2462387	hsa-miR-3074-5p	CLIP-seq
MIRT2462388	hsa-miR-3672	CLIP-seq
MIRT2462389	hsa-miR-4722-3p	CLIP-seq
MIRT2462390	hsa-miR-4762-5p	CLIP-seq
MIRT2462391	hsa-miR-4769-3p	CLIP-seq
MIRT2462392	hsa-miR-548aa	CLIP-seq
MIRT2462393	hsa-miR-888	CLIP-seq
MIRT2651287	hsa-miR-1237	CLIP-seq
MIRT2651288	hsa-miR-1248	CLIP-seq
MIRT2651289	hsa-miR-1264	CLIP-seq
MIRT2651290	hsa-miR-1297	CLIP-seq
MIRT2651291	hsa-miR-133a	CLIP-seq
MIRT2651292	hsa-miR-133b	CLIP-seq
MIRT2651293	hsa-miR-1470	CLIP-seq
MIRT2651294	hsa-miR-2467-3p	CLIP-seq
MIRT2651295	hsa-miR-26a	CLIP-seq
MIRT2651296	hsa-miR-26b	CLIP-seq
MIRT2651297	hsa-miR-3121-5p	CLIP-seq
MIRT2651298	hsa-miR-3123	CLIP-seq
MIRT2651299	hsa-miR-3137	CLIP-seq
MIRT2462388	hsa-miR-3672	CLIP-seq
MIRT2651300	hsa-miR-3678-3p	CLIP-seq
MIRT2651301	hsa-miR-370	CLIP-seq
MIRT2651302	hsa-miR-3919	CLIP-seq
MIRT2651303	hsa-miR-3920	CLIP-seq
MIRT2651304	hsa-miR-3925-5p	CLIP-seq
MIRT2651305	hsa-miR-3938	CLIP-seq
MIRT2651306	hsa-miR-3973	CLIP-seq
MIRT2651307	hsa-miR-3976	CLIP-seq
MIRT2651308	hsa-miR-4264	CLIP-seq
MIRT2651309	hsa-miR-4300	CLIP-seq
MIRT2651310	hsa-miR-4465	CLIP-seq
MIRT1456666	hsa-miR-4468	CLIP-seq
MIRT1456667	hsa-miR-4643	CLIP-seq
MIRT1456668	hsa-miR-4660	CLIP-seq
MIRT2651311	hsa-miR-4667-3p	CLIP-seq
MIRT2651312	hsa-miR-483-3p	CLIP-seq
MIRT1456669	hsa-miR-513a-3p	CLIP-seq
MIRT2651313	hsa-miR-516a-3p	CLIP-seq
MIRT2651314	hsa-miR-520g	CLIP-seq
MIRT2651315	hsa-miR-520h	CLIP-seq
MIRT2651316	hsa-miR-522	CLIP-seq
MIRT2651317	hsa-miR-541	CLIP-seq
MIRT2651318	hsa-miR-544	CLIP-seq
MIRT2462392	hsa-miR-548aa	CLIP-seq
MIRT2651319	hsa-miR-607	CLIP-seq
MIRT2651320	hsa-miR-622	CLIP-seq
MIRT2651321	hsa-miR-642a	CLIP-seq
MIRT1456670	hsa-miR-646	CLIP-seq
MIRT2651322	hsa-miR-654-5p	CLIP-seq
MIRT2651323	hsa-miR-9	CLIP-seq
MIRT2651324	hsa-miR-920	CLIP-seq
MIRT2651325	hsa-miR-942	CLIP-seq
MIRT2651289	hsa-miR-1264	CLIP-seq
MIRT2651290	hsa-miR-1297	CLIP-seq
MIRT2651291	hsa-miR-133a	CLIP-seq
MIRT2651292	hsa-miR-133b	CLIP-seq
MIRT2651293	hsa-miR-1470	CLIP-seq
MIRT2651294	hsa-miR-2467-3p	CLIP-seq
MIRT2651295	hsa-miR-26a	CLIP-seq
MIRT2651296	hsa-miR-26b	CLIP-seq
MIRT2651297	hsa-miR-3121-5p	CLIP-seq
MIRT2651298	hsa-miR-3123	CLIP-seq
MIRT2694208	hsa-miR-3192	CLIP-seq
MIRT2462388	hsa-miR-3672	CLIP-seq
MIRT2651300	hsa-miR-3678-3p	CLIP-seq
MIRT2651301	hsa-miR-370	CLIP-seq
MIRT1456665	hsa-miR-377	CLIP-seq
MIRT2651302	hsa-miR-3919	CLIP-seq
MIRT2651304	hsa-miR-3925-5p	CLIP-seq
MIRT2651306	hsa-miR-3973	CLIP-seq
MIRT2651307	hsa-miR-3976	CLIP-seq
MIRT2651309	hsa-miR-4300	CLIP-seq
MIRT2694209	hsa-miR-4463	CLIP-seq
MIRT2651310	hsa-miR-4465	CLIP-seq
MIRT1456666	hsa-miR-4468	CLIP-seq
MIRT2694210	hsa-miR-4494	CLIP-seq
MIRT1456667	hsa-miR-4643	CLIP-seq
MIRT1456668	hsa-miR-4660	CLIP-seq
MIRT2651311	hsa-miR-4667-3p	CLIP-seq
MIRT2651312	hsa-miR-483-3p	CLIP-seq
MIRT1456669	hsa-miR-513a-3p	CLIP-seq
MIRT2651314	hsa-miR-520g	CLIP-seq
MIRT2651315	hsa-miR-520h	CLIP-seq
MIRT2651316	hsa-miR-522	CLIP-seq
MIRT2651317	hsa-miR-541	CLIP-seq
MIRT2651318	hsa-miR-544	CLIP-seq
MIRT2462392	hsa-miR-548aa	CLIP-seq
MIRT2651319	hsa-miR-607	CLIP-seq
MIRT1456670	hsa-miR-646	CLIP-seq
MIRT2651322	hsa-miR-654-5p	CLIP-seq
MIRT2651323	hsa-miR-9	CLIP-seq
MIRT2651324	hsa-miR-920	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	24901367
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006400	Process	TRNA modification	IBA
GO:0006400	Process	TRNA modification	IDA	24126054
GO:0006400	Process	TRNA modification	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0052381	Function	TRNA dimethylallyltransferase activity	EXP	24901367
GO:0052381	Function	TRNA dimethylallyltransferase activity	IBA
GO:0052381	Function	TRNA dimethylallyltransferase activity	IDA	24126054, 24901367, 34774131
GO:0052381	Function	TRNA dimethylallyltransferase activity	IEA
GO:0052381	Function	TRNA dimethylallyltransferase activity	TAS	11111046
GO:0070900	Process	Mitochondrial tRNA modification	IDA	34774131
GO:0070900	Process	Mitochondrial tRNA modification	IDA	24901367, 34774131
GO:0070900	Process	Mitochondrial tRNA modification	TAS

MIM	HGNC	e!Ensembl
617840	20286	ENSG00000043514

Q9H3H1

Protein name

tRNA dimethylallyltransferase (EC 2.5.1.75) (Isopentenyl-diphosphate:tRNA isopentenyltransferase) (IPP transferase) (IPPT) (hGRO1) (tRNA isopentenyltransferase 1) (IPTase)

Protein function

Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i6A37) (PubMed:11111046, PubMed:24126054, PubMed:24901367, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01715	IPPT	58 → 334		Domain
PF12171	zf-C2H2_jaz	395 → 420	Zinc-finger double-stranded RNA-binding	Family

Sequence

MASVAAARAVPVGSGLRGLQRTLPLVVILGATGTGKSTLALQLGQRLGGEIVSADSMQVY
EGLDIITNKVSAQEQRICRHHMISFVDPLVTNYTVVDFRNRATALIEDIFARDKIPIVVG
GTNYYIESLLWKVLVNTKPQEMGTEKVIDRKVELEKEDGLVLHKRLSQVDPEMAAKLHPH
DKRKVARSLQVFEETGISHSEFLHRQHTEEGGGPLGGPLKFSNPCILWLHADQAVLDERL
DKRVDDMLAAGLLEELRDFHRRYNQKNVSENSQDYQHGIFQSIGFKEFHEYLITEGKCTL
ETSNQLLKKGIEALKQVTKRYARKQNRWVKNRFLSRPGPIVPPVYGLEVSDVSKWEESVL
EPALEIVQSFIQGHKPTATPIKMPYNEAENKRSYHLCDLCDRIIIGDREWAAHIKSKSHL
NQLKKRRRLDSDAVNTIESQSVSPDHNKEPKEKGSPGQNDQELKCSV

Sequence length

467

Interactions

View interactions

	KEGG		Reactome
	Metabolic pathways		tRNA modification in the mitochondrion

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 35	Likely pathogenic; Pathogenic	rs764506732, rs2124597984, rs370866302, rs1331558743, rs2522382789, rs2522401762, rs2522431304, rs184469579, rs144042123, rs1047420796, rs536000212	RCV004728774 RCV001731137 RCV002246787 RCV004796719 RCV003338133 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs536000212	RCV000656419	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs1367142675	RCV005356343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIT1 Deficiency	Likely pathogenic; Pathogenic	rs184469579, rs536000212	RCV000477658 RCV001824154	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIT1-related disorder	Likely pathogenic; Pathogenic	rs1642122631, rs144042123	RCV003402337 RCV003960141	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17145094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28985732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	15572278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27150055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27150055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15870694, 27984194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17060621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	24901367, 28185376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	24901367, 28185376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	24901367, 28185376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Depressive disorder	Mental Depression	BEFREE	28038377, 30577943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39287291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	31832007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24865428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24865428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	24901367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26297543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15218300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15870694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17145094, 30991224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major depression, single episode	Mental Depression	BEFREE	30265045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27150055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15870694, 27984194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15218300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17060621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23349019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19258312, 24865428		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15218300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28038377, 30577943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24901367	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	28185376, 28277934, 31140736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	31140736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15870694, 17060621, 19258312, 23349019, 27984194, 28000317		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17060621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30265045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	24865428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15221009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23349019		★★★★★ ★☆☆☆☆ Found in Text Mining only

TRIT1 (tRNA isopentenyltransferase 1)