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 Retinitis Pigmentosa And Erythrocytic Microcytosis. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (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).
Additional gene information for TRNT1 Gene
- Monarch Initiative
- Search for TRNT1 at DataMed
- Search for TRNT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRNT1 Gene
Genomics for TRNT1 Gene
GeneHancer (GH) Regulatory Elements for TRNT1 Gene
Promoters and enhancers for TRNT1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03I003125 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 556 | +0.4 | 407 | 3 | SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 POLR2B CBX5 ZNF213 | TRNT1 IL5RA CRBN GC03P003130 | |
| GH03I003177 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 18.4 | +52.1 | 52060 | 2.7 | SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 | CRBN TRNT1 ENSG00000271870 | |
| GH03I003170 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 29.6 | +46.6 | 46625 | 6.2 | CTCF IRF2 ZNF654 RAD21 ZNF316 GATA3 HNF4G ZBTB33 HNF4A MAFK | TRNT1 CRBN IL5RA ENSG00000271870 | |
| GH03I003191 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 11.3 | +65.2 | 65178 | 1.7 | HDAC1 ATF1 NFRKB ZBTB40 TCF12 GATA2 CREM ZBTB2 ZBTB11 ZEB2 | TRNT1 IL5RA CRBN GC03M003375 | |
| GH03I003145 | Enhancer | 0.4 | dbSUPER | 34.5 | +20.3 | 20292 | 3.4 | PAF1 REST ATF2 | TRNT1 CRBN IL5RA ENSG00000253049 ENSG00000271870 GC03P003130 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TRNT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for TRNT1 Gene
Genomic Locations for TRNT1 Gene
- chr3:3,126,916-3,152,503
- (GRCh38/hg38)
- Size:
- 25,588 bases
- Orientation:
- Plus strand
- chr3:3,168,600-3,192,563
- (GRCh37/hg19)
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
- Ubiquitination at isoforms=2291
Other Protein References for TRNT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- GeneTex TRNT1 antibody for TRNT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TRNT1
Protein Products
-
OriGene Purified Proteins for TRNT1
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- antibodies-online: Search results for 4 available Trnt1 Proteins ranked by validation data
- Compare Top Trnt1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TRNT1
-
Abcam proteins for TRNT1
Assay Products
No data available for DME Specific Peptides for TRNT1 Gene
Domains & Families for TRNT1 Gene
Gene Families for TRNT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
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.
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
Phenotypes From GWAS Catalog 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:0005524 | ATP binding | TAS | 11504732 |
| GO:0016740 | transferase activity | IEA | -- |
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
-
OriGene CRISPR knockouts for TRNT1
- genomics-online: gRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- Applied Biological Materials CRISPR for TRNT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TRNT1
- Browse OriGene Inhibitory RNA Products For TRNT1
- genomics-online: shRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
-
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
- Applied Biological Materials Clones for TRNT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for TRNT1 gene
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ViGene Biosciences lentiviral particle packaged cDNA for TRNT1 gene
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ViGene Biosciences ready-to-package AAV shRNAs for TRNT1 gene
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 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005739 | mitochondrion | IDA,IEA | 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:0008033 | tRNA processing | IEA | -- |
| GO:0042780 | tRNA 3-end processing | TAS | -- |
| GO:1990180 | mitochondrial 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
- genomics-online: gRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- Applied Biological Materials CRISPR for TRNT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 RNAi, sirna, and shrna products in human, mouse, rat for TRNT1
- Browse OriGene Inhibitory RNA Products For TRNT1
- genomics-online: shRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
-
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
- Applied Biological Materials Clones for TRNT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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(4.3)
- 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 for TRNT1
-
OriGene qPCR primer pairs and template standards 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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TRNT1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Trnt1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Trnt1 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | TRNT1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TRNT1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TRNT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TRNT1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TRNT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | trnt1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398421 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | trnt1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002600 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2100 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | hpo-31 33 34 |
|
||
| F55B12.4 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CCA1 34 36 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114362638 | likely-benign, benign, not specified, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 3,137,342(+) | T/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs121918368 | pathogenic, Mental retardation, autosomal recessive 2 | 3,150,939(+) | G/A | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
| rs199931785 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084] | 3,148,095(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs334773 | benign, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, not specified | 3,129,108(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs368078167 | pathogenic, uncertain-significance, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, not specified | 3,147,899(+) | C/G/T | intron_variant |
| 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)
Additional Variant Information for TRNT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRNT1 Gene
Disorders for TRNT1 Gene
(6) MalaCards diseases for TRNT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay |
|
|
| retinitis pigmentosa and erythrocytic microcytosis |
|
|
| trnt1 deficiency |
|
|
| sideroblastic anemia |
|
|
| cataract 7 |
|
|
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.
Additional Disease Information for TRNT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 2001) 2 3 4 22 58
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
- Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. (PMID: 26494905) DeLuca AP … Slusarski DC (Human molecular genetics 2016) 3 4 58
- Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). (PMID: 25193871) Chakraborty PK … Fleming MD (Blood 2014) 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
Products for TRNT1 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for TRNT1
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- Browse OriGene Inhibitory RNA Products For TRNT1
- OriGene qPCR primer pairs and template standards for TRNT1
- OriGene qPCR primer pairs for TRNT1
- OriGene CRISPR knockouts for TRNT1
- OriGene ORF clones in human for TRNT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TRNT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for TRNT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for TRNT1
- GenScript Custom Assay Services for TRNT1
- GenScript Custom overexpressing Cell Line Services for TRNT1
- GenScript: Design CRISPR guide RNA sequences for TRNT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for TRNT1
- Sino Biological Human cDNA Clone for TRNT1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for TRNT1
- Novus Biologicals proteins and lysates for TRNT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam proteins for TRNT1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for TRNT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- antibodies-online: Search results for 11 available Trnt1 Antibodies ranked by validation data
- Compare Top Trnt1 Antibodies
- antibodies-online: Search results for available Trnt1 related products ranked by validation data
- antibodies-online: Search results for 4 available Trnt1 Proteins ranked by validation data
- Compare Top Trnt1 Proteins
- Quality Products:
- 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
- genomics-online: cdna clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- orf clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- genomics-online: gRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- genomics-online: primer clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
- genomics-online: shRNA clones - Search results for 114 available Trnt1 gene related products
- Overview of 114 available Trnt1 gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew