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... See more...

Aliases for TRIT1 Gene

Aliases for TRIT1 Gene

  • TRNA Isopentenyltransferase 1 2 3 4 5
  • TRNA Dimethylallyltransferase 2 3 4
  • IPP Transferase 2 3 4
  • Isopentenyl-Diphosphate:TRNA Isopentenyltransferase 3 4
  • IPTase 3 4
  • HGRO1 3 4
  • IPPT 3 4
  • MOD5 3 4
  • IPT 3 4
  • TRNA Dimethylallyltransferase, Mitochondrial 3
  • TRNA Isopentenylpyrophosphate Transferase 3
  • EC 2.5.1.75 4
  • EC 2.5.1.8 54
  • COXPD35 3
  • GRO1 3

External Ids for TRIT1 Gene

Previous GeneCards Identifiers for TRIT1 Gene

  • GC01M039720
  • GC01M039975
  • GC01M040081
  • GC01M040306
  • GC01M038425

Summaries for TRIT1 Gene

Entrez Gene Summary for TRIT1 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]

GeneCards Summary for TRIT1 Gene

TRIT1 (TRNA Isopentenyltransferase 1) is a Protein Coding gene. Diseases associated with TRIT1 include Combined Oxidative Phosphorylation Deficiency 35 and Noonan Syndrome 5. Among its related pathways are tRNA processing and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and dimethylallyltranstransferase activity.

UniProtKB/Swiss-Prot Summary for TRIT1 Gene

  • 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 (i(6)A).

Gene Wiki entry for TRIT1 Gene

Additional gene information for TRIT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRIT1 Gene

Genomics for TRIT1 Gene

GeneHancer (GH) Regulatory Elements for TRIT1 Gene

Promoters and enhancers for TRIT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRIT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRIT1 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • p53

Genomic Locations for TRIT1 Gene

Genomic Locations for TRIT1 Gene
chr1:39,838,110-39,883,511
(GRCh38/hg38)
Size:
45,402 bases
Orientation:
Minus strand
chr1:40,306,703-40,349,183
(GRCh37/hg19)
Size:
42,481 bases
Orientation:
Minus strand

Genomic View for TRIT1 Gene

Genes around TRIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIT1 Gene

Proteins for TRIT1 Gene

  • Protein details for TRIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3H1-MOD5_HUMAN
    Recommended name:
    tRNA dimethylallyltransferase
    Protein Accession:
    Q9H3H1
    Secondary Accessions:
    • A1A4X7
    • Q3T7B5
    • Q5QPK5
    • Q5QPK6
    • Q6IAC9
    • Q96FJ3
    • Q96L45
    • Q9NXT7

    Protein attributes for TRIT1 Gene

    Size:
    467 amino acids
    Molecular mass:
    52725 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TRIT1 Gene

neXtProt entry for TRIT1 Gene

Selected DME Specific Peptides for TRIT1 Gene

Q9H3H1:
  • PIVVGGT
  • EIVSADS

Post-translational modifications for TRIT1 Gene

  • Ubiquitination at Lys391
  • Modification sites at PhosphoSitePlus

Domains & Families for TRIT1 Gene

Gene Families for TRIT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TRIT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57457, highly similar to tRNA isopentenyltransferase, mitochondrial (EC 2.5.1.8) (B4E3K2_HUMAN)
  • tRNA isopentenyltransferase (MOD5_HUMAN)
  • tRNA isopentenylpyrophosphate transferase isoform 7 (Q3T7B4_HUMAN)
  • tRNA isopentenylpyrophosphate transferase isoform 6 (Q3T7B5_HUMAN)
  • tRNA isopentenylpyrophosphate transferase isoform 5 (Q3T7B8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3H1

UniProtKB/Swiss-Prot:

MOD5_HUMAN :
  • Belongs to the IPP transferase family.
Family:
  • Belongs to the IPP transferase family.
genes like me logo Genes that share domains with TRIT1: view

Function for TRIT1 Gene

Molecular function for TRIT1 Gene

UniProtKB/Swiss-Prot 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 (i(6)A).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine(37) in tRNA + dimethylallyl diphosphate = diphosphate + N(6)-dimethylallyladenosine(37) in tRNA; Xref=Rhea:RHEA:26482, Rhea:RHEA-COMP:10162, Rhea:RHEA-COMP:10375, ChEBI:CHEBI:33019, ChEBI:CHEBI:57623, ChEBI:CHEBI:74411, ChEBI:CHEBI:74415; EC=2.5.1.75; Evidence=. ;.

Enzyme Numbers (IUBMB) for TRIT1 Gene

Phenotypes From GWAS Catalog for TRIT1 Gene

Gene Ontology (GO) - Molecular Function for TRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005524 ATP binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRIT1: view
genes like me logo Genes that share phenotypes with TRIT1: view

Human Phenotype Ontology for TRIT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRIT1 Gene

MGI Knock Outs for TRIT1:
  • Trit1 Trit1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for TRIT1 Gene

miRTarBase miRNAs that target TRIT1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for TRIT1 Gene

Localization for TRIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIT1 Gene

Isoform 1: Mitochondrion.
Isoform 4: Mitochondrion.
Isoform 2: Cytoplasm.
Isoform 3: Cytoplasm.
Isoform 5: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRIT1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with TRIT1: view

Pathways & Interactions for TRIT1 Gene

genes like me logo Genes that share pathways with TRIT1: view

Pathways by source for TRIT1 Gene

Gene Ontology (GO) - Biological Process for TRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IBA 21873635
GO:0008033 tRNA processing IEA --
GO:0070900 mitochondrial tRNA modification TAS --
genes like me logo Genes that share ontologies with TRIT1: view

No data available for SIGNOR curated interactions for TRIT1 Gene

Drugs & Compounds for TRIT1 Gene

(3) Drugs for TRIT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
DIMETHYLALLYL DIPHOSPHATE Experimental Pharma Competitive, Inhibitor 0
Isopentenyl pyrophosphate Experimental Pharma 0

(3) Additional Compounds for TRIT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with TRIT1: view

Transcripts for TRIT1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRIT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - - - -
SP15: -
SP16: - - - - - - -
SP17: - - - - - - - - - - - - - - - - -
SP18: -
SP19:
SP20:
SP21: - - - - - - - - - - - - - - - - - - -
SP22:

Relevant External Links for TRIT1 Gene

GeneLoc Exon Structure for
TRIT1
ECgene alternative splicing isoforms for
TRIT1

Expression for TRIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRIT1 Gene

This gene is overexpressed in Pancreatic juice (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRIT1 Gene



Protein tissue co-expression partners for TRIT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRIT1 Gene:

TRIT1

SOURCE GeneReport for Unigene cluster for TRIT1 Gene:

Hs.356554

Evidence on tissue expression from TISSUES for TRIT1 Gene

  • Intestine(4.2)
  • Kidney(4.2)
  • Lung(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with TRIT1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIT1 Gene

Orthologs for TRIT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIT1 33 32
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRIT1 33 32
  • 90.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TRIT1 33 32
  • 90.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trit1 17 33 32
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia Trit1 32
  • 86.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TRIT1 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRIT1 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRIT1 33 32
  • 72.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRIT1 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trit1 32
  • 66.05 (n)
Str.20035 32
zebrafish
(Danio rerio)
Actinopterygii trit1 33 32
  • 62.72 (n)
OneToOne
Dr.11495 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000639 32
  • 50.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31381 33 32
  • 50.43 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gro-1 33 32
  • 46.89 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07359g 32
  • 49.21 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER341W 32
  • 47.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOD5 33 32
  • 46.53 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons IPT2 32
  • 47.17 (n)
rice
(Oryza sativa)
Liliopsida Os01g0968700 32
  • 48.88 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tit1 32
  • 46.89 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU10185 32
  • 45.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6808 33
  • 40 (a)
OneToOne
Species where no ortholog for TRIT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRIT1 Gene

ENSEMBL:
Gene Tree for TRIT1 (if available)
TreeFam:
Gene Tree for TRIT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRIT1: view image

Paralogs for TRIT1 Gene

No data available for Paralogs for TRIT1 Gene

Variants for TRIT1 Gene

Sequence variations from dbSNP and Humsavar for TRIT1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1047420796 pathogenic, uncertain-significance, Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] 39,847,258(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1060505019 uncertain-significance, TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] 39,847,620(-) T/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs146838322 likely-pathogenic, Macrocephalus 39,854,058(-) A/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs184469579 uncertain-significance, likely-pathogenic, TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35 39,883,470(-) G/A/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs199622789 uncertain-significance, TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35 (COXPD35) [MIM:617873] 39,847,628(-) A/C/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TRIT1 Gene

Variant ID Type Subtype PubMed ID
dgv153n100 CNV gain 25217958
dgv15n27 CNV gain 19166990
esv2666580 CNV deletion 23128226
esv2758933 CNV loss 17122850
esv3585792 CNV loss 21293372
nsv1122334 CNV deletion 24896259
nsv546063 CNV gain 21841781

Variation tolerance for TRIT1 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.41; 77.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIT1 Gene

Human Gene Mutation Database (HGMD)
TRIT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIT1 Gene

Disorders for TRIT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TRIT1 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 35
  • coxpd35
noonan syndrome 5
  • ns5
tinea pedis
  • athlete's foot
- elite association - COSMIC cancer census association via MalaCards
Search TRIT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MOD5_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRIT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRIT1: view

No data available for Genatlas for TRIT1 Gene

Publications for TRIT1 Gene

  1. Cloning of a human tRNA isopentenyl transferase. (PMID: 11111046) Golovko A … Nicander B (Gene 2000) 2 3 4 23 56
  2. Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival. (PMID: 17145094) Spinola M … Dragani TA (Lung cancer (Amsterdam, Netherlands) 2007) 3 23 43 56
  3. Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer. (PMID: 15870694) Spinola M … Dragani TA (Oncogene 2005) 2 3 4 56
  4. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. (PMID: 28185376) Kernohan KD … Thiffault I (Human mutation 2017) 3 4 56
  5. Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. (PMID: 24901367) Yarham JW … Taylor RW (PLoS genetics 2014) 3 4 56

Products for TRIT1 Gene

Sources for TRIT1 Gene