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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54802
Gene name Gene Name - the full gene name approved by the HGNC.	TRNA isopentenyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TRIT1
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD35, GRO1, IPPT, IPT, IPTase, MOD5, hGRO1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
combined oxidative phosphorylation deficiency	combined oxidative phosphorylation deficiency 35	rs184469579, rs144042123, rs1047420796, rs536000212	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs536000212	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Macrocephaly	macrocephaly	N/A	N/A	ClinVar
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	27150055
Esophageal Neoplasms	Associate	39287291
Lung Neoplasms	Associate	17145094, 30991224
Mitochondrial Diseases	Associate	24901367
Neoplasms	Inhibit	23898186
Neoplasms	Associate	24126054, 30991224, 36460334

TRIT1 (tRNA isopentenyltransferase 1)