TRIT1
tRNA dimethylallyltransferase
Also known as: FLJ20061, IPT, MOD5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H3H1
- Gene
- TRIT1
- Ensembl
- ENSG00000043514
- Chromosome
- 1
- Canonical length
- 467 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI 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 protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
467 residues, UniProt reviewed canonical sequence.
>Q9H3H1|TRIT1
1 MASVAAARAV PVGSGLRGLQ RTLPLVVILG ATGTGKSTLA LQLGQRLGGE IVSADSMQVY
61 EGLDIITNKV SAQEQRICRH HMISFVDPLV TNYTVVDFRN RATALIEDIF ARDKIPIVVG
121 GTNYYIESLL WKVLVNTKPQ EMGTEKVIDR KVELEKEDGL VLHKRLSQVD PEMAAKLHPH
181 DKRKVARSLQ VFEETGISHS EFLHRQHTEE GGGPLGGPLK FSNPCILWLH ADQAVLDERL
241 DKRVDDMLAA GLLEELRDFH RRYNQKNVSE NSQDYQHGIF QSIGFKEFHE YLITEGKCTL
301 ETSNQLLKKG IEALKQVTKR YARKQNRWVK NRFLSRPGPI VPPVYGLEVS DVSKWEESVL
361 EPALEIVQSF IQGHKPTATP IKMPYNEAEN KRSYHLCDLC DRIIIGDREW AAHIKSKSHL
421 NQLKKRRRLD SDAVNTIESQ SVSPDHNKEP KEKGSPGQND QELKCSVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRIT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- skin: 20 nTPM
- pancreas: 19 nTPM
- prostate: 19 nTPM
- cerebellum: 17 nTPM
- esophagus: 17 nTPM
- pituitary gland: 16 nTPM
Single-cell type
- sertoli cells: 118 nCPM
- cardiomyocytes: 105 nCPM
- respiratory deuterosomal cells: 72 nCPM
- retinal pigment epithelial cells: 64 nCPM
- respiratory ciliated cells: 62 nCPM
- choroid plexus epithelial cells: 61 nCPM
Immune cell
- myeloid DC: 10 nTPM
- plasmacytoid DC: 10 nTPM
- classical monocyte: 5.4 nTPM
- non-classical monocyte: 5.3 nTPM
- intermediate monocyte: 3.9 nTPM
- MAIT T-cell: 3.7 nTPM
Brain region
- cerebellum: 12 nTPM
- white matter: 11 nTPM
- cerebral cortex: 11 nTPM
- hypothalamus: 10 nTPM
- basal ganglia: 8.3 nTPM
- hippocampal formation: 8.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRIT1.
Disease | AllUniProt
Conditions TRIT1 is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 35 (COXPD35) MIM:617873
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 188 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation deficiency 35
- Inborn genetic diseases
- TRIT1 Deficiency
- TRIT1-related disorder
- Epileptic encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.78
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ATP binding
- nucleic acid binding
- zinc ion binding
- tRNA dimethylallyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Matrin/U1-C-like, C2H2-type zinc finger
- P-loop containing nucleoside triphosphate hydrolase
- Zinc finger C2H2 superfamily
- IPP transferase
- tRNA isopentenyltransferase, eukaryotes
- Dimethylallyltransferase
- IPP transferase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TRIT1 as an antibody target. Whether an autoantibody or antibody against TRIT1 could matter depends on whether native TRIT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRIT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TRIT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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