TRIT1
entrez
54802
canonical
uniprot
Q9H3H1
canonical
ensembl
ENSG00000043514
resolver
ensp
ENSP00000321810
resolver
ensp
ENSP00000361905
resolver
ensp
ENSP00000388333
resolver
ensp
ENSP00000663152
resolver
genesymbol
TRIT1
resolver
genesymbol_syn
IPT
resolver
genesymbol_syn
MOD5
resolver
hgnc
HGNC:20286
resolver
uniprot
A1A4X7
resolver
uniprot
Q3T7B5
resolver
uniprot
Q3T7C7
resolver
uniprot
Q53F11
resolver
uniprot
Q5QPK5
resolver
uniprot
Q5QPK6
resolver
uniprot
Q6IAC9
resolver
uniprot
Q96FJ3
resolver
uniprot
Q96L45
resolver
uniprot
Q9NXT7
resolver
uniprot_entry
MOD5_HUMAN
resolver
uniprot_entry
Q3T7C7_HUMAN
resolver
uniprot_entry
Q53F11_HUMAN
resolver
uniprot_sec
A1A4X7
resolver
uniprot_sec
Q3T7B5
resolver
uniprot_sec
Q5QPK5
resolver
uniprot_sec
Q5QPK6
resolver
uniprot_sec
Q6IAC9
resolver
uniprot_sec
Q96FJ3
resolver
uniprot_sec
Q96L45
resolver
uniprot_sec
Q9NXT7
resolver
amino_acid_sequence
MASVAAARAVPVGSGLRGLQRTLPLVVILGATGTGKSTLALQLGQRLGGEIVSADSMQVYEGLDIITNKVSAQEQRICRHHMISFVDPLVTNYTVVDFRNRATALIEDIFARDKIPIVVGGTNYYIESLLWKVLVNTKPQEMGTEKVIDRKVELEKEDGLVLHKRLSQVDPEMAAKLHPHDKRKVARSLQVFEETGISHSEFLHRQHTEEGGGPLGGPLKFSNPCILWLHADQAVLDERLDKRVDDMLAAGLLEELRDFHRRYNQKNVSENSQDYQHGIFQSIGFKEFHEYLITEGKCTLETSNQLLKKGIEALKQVTKRYARKQNRWVKNRFLSRPGPIVPPVYGLEVSDVSKWEESVLEPALEIVQSFIQGHKPTATPIKMPYNEAENKRSYHLCDLCDRIIIGDREWAAHIKSKSHLNQLKKRRRLDSDAVNTIESQSVSPDHNKEPKEKGSPGQNDQELKCSV
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873]: An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. {ECO:0000269|PubMed:24901367, ECO:0000269|PubMed:28185376, ECO:0000269|PubMed:32088416, ECO:0000269|PubMed:32948376}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.75
uniprot
proteins
function
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:34774131). Mediates modification of a limited subset of tRNAs: tRNA(Ser)(AGA), tRNA(Ser)(CGA), tRNA(Ser)(UGA), as well as partial modification of the selenocysteine tRNA(Ser)(UCA) (PubMed:24126054). TRIT1 is therefore required for selenoprotein expression (PubMed:24126054). {ECO:0000269|PubMed:11111046, ECO:0000269|PubMed:24126054, ECO:0000269|PubMed:24901367, ECO:0000269|PubMed:34774131}.
uniprot
proteins
mass_dalton
52725
uniprot
proteins
protein_family
IPP transferase family
uniprot
proteins
pubmed
11111046
uniprot
proteins
pubmed
11560893
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15870694
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24126054
uniprot
proteins
pubmed
24901367
uniprot
proteins
pubmed
28185376
uniprot
proteins
pubmed
32088416
uniprot
proteins
pubmed
32948376
uniprot
proteins
pubmed
34774131
uniprot
proteins
sequence_length
467
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:24901367}.; SUBCELLULAR LOCATION: [Isoform 4]: Mitochondrion {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm {ECO:0000305}.
uniprot
proteins