Aliases for TRNT1 Gene
Aliases for TRNT1 Gene
- TRNA Nucleotidyl Transferase 1 2 3 5
- TRNA Nucleotidyl Transferase, CCA-Adding, 1 2 3
- ATP(CTP):TRNA Nucleotidyltransferase 2 3
- TRNA CCA Nucleotidyl Transferase 1 2 3
- Mt TRNA CCA-Pyrophosphorylase 3 4
- Mt TRNA CCA-Diphosphorylase 3 4
- Mt TRNA Adenylyltransferase 3 4
- Mt CCA-Adding Enzyme 3 4
- CCA-Adding Enzyme 2 3
- Mitochondrial TRNA Nucleotidyl Transferase, CCA-Adding 4
External Ids for TRNT1 Gene
- HGNC: 17341
- Entrez Gene: 51095
- Ensembl: ENSG00000072756
- OMIM: 612907
- UniProtKB: Q96Q11
Previous GeneCards Identifiers for TRNT1 Gene
- GC03P003097
- GC03P003143
- GC03P003168
- GC03P003102
Summaries for TRNT1 Gene
-
The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for TRNT1 Gene
TRNT1 (TRNA Nucleotidyl Transferase 1) is a Protein Coding gene. Diseases associated with TRNT1 include Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay and Sideroblastic Anemia. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include RNA binding and nucleotidyltransferase activity.
UniProtKB/Swiss-Prot for TRNT1 Gene
-
Isoform 1: Adds and repairs the conserved 3-CCA sequence necessary for the attachment of amino acids to the 3 terminus of tRNA molecules, using CTP and ATP as substrates.
-
Isoform 2: Adds 2 C residues (CC-) to the 3 terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRNT1 Gene
Genomics for TRNT1 Gene
Regulatory Elements for TRNT1 Gene
Enhancers for TRNT1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH03G003170 | 1.2 | Ensembl ENCODE dbSUPER | 29.6 | +46.6 | 46625 | 6.2 | CTCF ZNF654 IRF2 RAD21 GATA3 ZNF316 GATA2 HNF4G HNF4A ZBTB33 | TRNT1 CRBN IL5RA ENSG00000271870 |
| GH03G003145 | 0.9 | dbSUPER | 34.5 | +20.3 | 20293 | 3.4 | ATF1 PKNOX1 ARNT ZNF766 GATA2 PAF1 USF2 REST ZNF592 MEF2D | TRNT1 CRBN IL5RA ENSG00000253049 ENSG00000271870 GC03P003130 |
| GH03G003177 | 1.4 | ENCODE dbSUPER | 18.4 | +52.1 | 52061 | 2.7 | FOXA2 MLX ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 | CRBN TRNT1 ENSG00000271870 |
| GH03G003136 | 1.1 | dbSUPER | 21.5 | +11.8 | 11782 | 3.9 | HNRNPUL1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 | CRBN TRNT1 ENSG00000253049 ENSG00000271870 GC03P003130 |
| GH03G003148 | 1 | dbSUPER | 22.2 | +27.1 | 27091 | 10.0 | ATF1 FOXA2 AGO1 YY1 TCF12 ZNF766 GATA2 PAF1 ZNF592 SMARCA4 | CRBN TRNT1 ENSG00000253049 ENSG00000271870 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TRNT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for TRNT1 Gene
- Chromosome:
- 3
- Start:
- 3,126,916 bp from pter
- End:
- 3,152,503 bp from pter
- Size:
- 25,588 bases
- Orientation:
- Plus strand
Genomic View for TRNT1 Gene
Genes around TRNT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p26.2 by Ensembl
- 3p26.2 by Entrez Gene
- 3p26.2 by HGNC
TRNT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TRNT1 Gene
Proteins for TRNT1 Gene
-
Protein details for TRNT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96Q11-TRNT1_HUMAN
- Recommended name:
- CCA tRNA nucleotidyltransferase 1, mitochondrial
- Protein Accession:
- Q96Q11
- A8K2Z6
- B7WP13
- C9JKA2
- Q8ND57
- Q9BS97
- Q9Y362
Protein attributes for TRNT1 Gene
- Size:
- 434 amino acids
- Molecular mass:
- 50128 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Monomer, and homodimer; disulfide-linked.
- SequenceCaution:
-
- Sequence=AAD34042.1; Type=Frameshift; Positions=16; Evidence={ECO:0000305}; Sequence=AAH12537.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for TRNT1 Gene
Post-translational modifications for TRNT1 Gene
Other Protein References for TRNT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TRNT1
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-
Abcam antibodies for TRNT1
- Invitrogen Antibodies for TRNT1
- antibodies-online Antibodies for TRNT1: See all 9
- GeneTex Bhlha15 antibody for TRNT1
- GeneTex TRNT1 antibody for TRNT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TRNT1
Protein Products
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OriGene Purified Proteins for TRNT1
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- antibodies-online Proteins for TRNT1: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for TRNT1
-
Abcam proteins for TRNT1
No data available for DME Specific Peptides for TRNT1 Gene
Domains & Families for TRNT1 Gene
Protein Domains for TRNT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TRNT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96Q11UniProtKB/Swiss-Prot:
TRNT1_HUMAN :- Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.
- Family:
-
- Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.
No data available for Gene Families for TRNT1 Gene
Function for TRNT1 Gene
Molecular function for TRNT1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- A tRNA precursor + 2 CTP + ATP = a tRNA with a 3 CCA end + 3 diphosphate.
- UniProtKB/Swiss-Prot Function:
- Isoform 1: Adds and repairs the conserved 3-CCA sequence necessary for the attachment of amino acids to the 3 terminus of tRNA molecules, using CTP and ATP as substrates.
- UniProtKB/Swiss-Prot Function:
- Isoform 2: Adds 2 C residues (CC-) to the 3 terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).
Enzyme Numbers (IUBMB) for TRNT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000049 | tRNA binding | IDA | 11504732 |
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003723 | RNA binding | IEA | -- |
| GO:0004810 | tRNA adenylyltransferase activity | IDA | 11504732 |
| GO:0005524 | ATP binding | TAS | 11504732 |
Phenotypes for TRNT1 Gene
- MGI mutant phenotypes for TRNT1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TRNT1:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased G1 DNA content
- G0/1 arrest
- Effect on mitosis
- Decreased shRNA abundance (Z-score < -2)
- Weakly decreased NFAT1-GFP nuclear translocation
- Increased shRNA abundance (Z-score > 2)
Animal Models for TRNT1 Gene
- MGI Knock Outs for TRNT1:
-
- Trnt1 tm1a(EUCOMM)Hmgu
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TRNT1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TRNT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TRNT1 gene
- Search ViGene Biosciences for TRNT1
CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for TRNT1
- GenScript: Design CRISPR guide RNA sequences for TRNT1
miRNA for TRNT1 Gene
- miRTarBase miRNAs that target TRNT1
miRNA Products
- Search ViGene Biosciences for TRNT1
Inhibitory RNA Products
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Clone Products
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- VectorBuilder custom plasmid, inducible vectors for TRNT1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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No data available for Transcription Factor Targets and HOMER Transcription for TRNT1 Gene
Localization for TRNT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TRNT1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 4 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 11504732 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for TRNT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | RNA transport | ||
| 3 | Gene Expression |
.48
|
|
Pathways by source for TRNT1 Gene
4 Reactome pathways for TRNT1 Gene
1 KEGG pathway for TRNT1 Gene
Interacting Proteins for TRNT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001680 | tRNA 3-terminal CCA addition | IEA,IDA | 25193871 |
| GO:0006396 | RNA processing | IEA | -- |
| GO:0006626 | protein targeting to mitochondrion | TAS | 11504732 |
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0042780 | tRNA 3-end processing | TAS | -- |
No data available for SIGNOR curated interactions for TRNT1 Gene
Drugs & Compounds for TRNT1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for TRNT1 Gene
mRNA/cDNA for TRNT1 Gene
- (6) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (132) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TRNT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TRNT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRNT1
- GenScript: Design CRISPR guide RNA sequences for TRNT1
miRNA Products
- Search ViGene Biosciences for TRNT1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for TRNT1
- Browse OriGene Inhibitory RNA Products For TRNT1
-
ViGene Biosciences ready-to-package AAV shRNAs for TRNT1 gene
Clone Products
- Sino Biological Human cDNA Clone for TRNT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TRNT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TRNT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP7: |
Expression for TRNT1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (8.7) and Lymph node (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRNT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TRNT1 Gene:
TRNT1SOURCE GeneReport for Unigene cluster for TRNT1 Gene:
Hs.732725Evidence on tissue expression from TISSUES for TRNT1 Gene
- Nervous system(4.6)
- Blood(4.2)
- Bone marrow(4.1)
- Lung(3.1)
- Intestine(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRNT1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- nervous
- skeletal muscle
Organs:
General:
- blood
- bone marrow
- red blood cell
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for TRNT1
-
OriGene qPCR primer pairs for TRNT1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TRNT1 Gene
Orthologs for TRNT1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TRNT1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | TRNT1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Trnt1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Trnt1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TRNT1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TRNT1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TRNT1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TRNT1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TRNT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | trnt1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398421 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | trnt1 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002600 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2100 36 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | hpo-31 34 35 |
|
||
| F55B12.4 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CCA1 35 37 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for TRNT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- 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 (Oryza sativa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TRNT1 Gene
Pseudogenes.org Pseudogenes for TRNT1 Gene
No data available for Paralogs for TRNT1 Gene
Variants for TRNT1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs199931785 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,148,095(+) | AGTGG(A/G)AAAAA | nc-transcript-variant, downstream-variant-500B, reference, missense | |
| rs370011798 | Pathogenic, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,146,489(+) | AGCAA(C/T)TGCAG | nc-transcript-variant, reference, missense | |
| rs606231287 | Pathogenic, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,144,671(+) | ACAGA(G/T)AATAC | nc-transcript-variant, reference, missense | |
| rs606231289 | Pathogenic, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,144,599(+) | CACTT(C/T)ATTTG | nc-transcript-variant, reference, missense | |
| rs606231290 | Pathogenic, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,140,628(+) | TCTCA(C/T)TATAA | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4636n100 | CNV | gain | 25217958 |
| dgv787n67 | CNV | loss | 20364138 |
| esv2422274 | CNV | duplication | 17116639 |
| esv2751994 | CNV | gain | 17911159 |
| esv3595052 | CNV | loss | 21293372 |
| nsv521796 | CNV | loss | 19592680 |
| nsv589371 | CNV | loss | 21841781 |
| nsv834604 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.12;
22.68% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TRNT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRNT1 Gene
Disorders for TRNT1 Gene
(5) MalaCards diseases for TRNT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay |
|
|
| sideroblastic anemia |
|
|
| cataract 7 |
|
|
| retinitis pigmentosa |
|
|
| autosomal recessive disease |
|
|
Search TRNT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TRNT1_HUMAN- Retinitis pigmentosa and erythrocytic microcytosis (RPEM) [MIM:616959]: An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia. {ECO:0000269 PubMed:26494905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]: An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. {ECO:0000269 PubMed:25193871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for TRNT1
No data available for Genatlas for TRNT1 Gene
Publications for TRNT1 Gene
- Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases. (PMID: 11504732) Nagaike T. … Ueda T. (J. Biol. Chem. 2001) 2 3 4 22 64
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
- Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. (PMID: 26494905) DeLuca A.P. … Slusarski D.C. (Hum. Mol. Genet. 2015) 3 4 64
- Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). (PMID: 25193871) Chakraborty P.K. … Fleming M.D. (Blood 2014) 3 4 64
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
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- Search knockout validated antibodies
- Browse monoclonal antibodies
- Invitrogen Antibodies for TRNT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for TRNT1: See all 9
- Search antibodies-online for kits
- antibodies-online Proteins for TRNT1: See all 4
- Search antibodies-online for peptides
- GeneTex Bhlha15 antibody for TRNT1
- GeneTex TRNT1 antibody for TRNT1
- Search GeneTex for Proteins for TRNT1
- ViGene Biosciences adenoviral particle packaged cDNA for TRNT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TRNT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TRNT1 gene
- Search ViGene Biosciences for TRNT1
- Santa Cruz Biotechnology (SCBT) Antibodies for TRNT1
- Search Santa Cruz Biotechnology (SCBT) for TRNT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TRNT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for TRNT1
- VectorBuilder custom plasmid, inducible vectors for TRNT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TRNT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for TRNT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer