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Aliases for TRNT1 Gene

Aliases for TRNT1 Gene

  • TRNA Nucleotidyl Transferase, CCA-Adding, 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
  • Mitochondrial TRNA Nucleotidyl Transferase, CCA-Adding 4
  • Mitochondrial CCA-Adding TRNA-Nucleotidyltransferase 3
  • CCA TRNA Nucleotidyltransferase 1, Mitochondrial 3
  • TRNA-Nucleotidyltransferase 1, Mitochondrial 3
  • EC 2.7.7.72 4
  • CGI-47 3
  • MtCCA 3
  • CCA1 3
  • SIFD 3

External Ids for TRNT1 Gene

Summaries for TRNT1 Gene

Entrez Gene Summary 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, CCA-Adding, 1) is a Protein Coding gene. Diseases associated with TRNT1 include sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and liver failure, transient infantile. Among its related pathways are RNA transport. GO annotations related to this gene include tRNA binding and tRNA 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).

Gene Wiki entry for TRNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRNT1 Gene

Genomics for TRNT1 Gene

Genomic Location for TRNT1 Gene

Start:
3,126,916 bp from pter
End:
3,150,879 bp from pter
Size:
23,964 bases
Orientation:
Plus strand

Genomic View for TRNT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRNT1 Gene

Regulatory Elements 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for TRNT1 Gene

    Alternative splice isoforms for TRNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRNT1 Gene

Proteomics data for TRNT1 Gene at MOPED

Post-translational modifications for TRNT1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys291

No data available for DME Specific Peptides for TRNT1 Gene

Domains for TRNT1 Gene

Protein Domains for TRNT1 Gene

UniProtKB/Swiss-Prot:

TRNT1_HUMAN
Family:
  • Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.:
    • Q96Q11
genes like me logo Genes that share domains with TRNT1: view

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

Gene Ontology (GO) - Molecular Function for TRNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 11504732
GO:0003723 RNA binding --
GO:0004810 tRNA adenylyltransferase activity IDA 11504732
GO:0005524 ATP binding TAS 11504732
GO:0016779 nucleotidyltransferase activity --
genes like me logo Genes that share ontologies with TRNT1: view

Phenotypes for TRNT1 Gene

GenomeRNAi human phenotypes for TRNT1:
genes like me logo Genes that share phenotypes with TRNT1: view

miRNA for TRNT1 Gene

miRTarBase miRNAs that target TRNT1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for TRNT1 Gene

Localization for TRNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRNT1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRNT1 Gene COMPARTMENTS Subcellular localization image for TRNT1 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TRNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with TRNT1: view

Pathways for TRNT1 Gene

SuperPathways for TRNT1 Gene

Superpath Contained pathways
1 RNA transport
genes like me logo Genes that share pathways with TRNT1: view

Pathways by source for TRNT1 Gene

1 KEGG pathway for TRNT1 Gene

Interacting Proteins for TRNT1 Gene

Gene Ontology (GO) - Biological Process for TRNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001680 tRNA 3-terminal CCA addition IDA 25193871
GO:0006396 RNA processing --
GO:0006626 protein targeting to mitochondrion TAS 11504732
GO:0042780 tRNA 3-end processing IDA 11504732
genes like me logo Genes that share ontologies with TRNT1: view

Compounds for TRNT1 Gene

(4) HMDB Compounds for TRNT1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Magnesium
  • Magnesium
7439-95-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with TRNT1: view

Transcripts for TRNT1 Gene

Unigene Clusters for TRNT1 Gene

TRNA nucleotidyl transferase, CCA-adding, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRNT1 Gene

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:

Relevant External Links for TRNT1 Gene

GeneLoc Exon Structure for
TRNT1
ECgene alternative splicing isoforms for
TRNT1

Expression for TRNT1 Gene

mRNA expression in normal human tissues for TRNT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TRNT1 Gene

SOURCE GeneReport for Unigene cluster for TRNT1 Gene Hs.732725

genes like me logo Genes that share expressions with TRNT1: view

Orthologs for TRNT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRNT1 36
  • 99.62 (n)
  • 99.54 (a)
TRNT1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRNT1 36
  • 87.71 (n)
  • 91.01 (a)
TRNT1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRNT1 36
  • 91.17 (n)
  • 92.17 (a)
TRNT1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trnt1 36
  • 87.94 (n)
  • 92.86 (a)
Trnt1 16
Trnt1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRNT1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRNT1 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trnt1 36
  • 88.1 (n)
  • 92.4 (a)
chicken
(Gallus gallus)
Aves TRNT1 36
  • 74.85 (n)
  • 74.94 (a)
TRNT1 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRNT1 37
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398421 36
tropical clawed frog
(Silurana tropicalis)
Amphibia trnt1 36
  • 65.17 (n)
  • 66.92 (a)
zebrafish
(Danio rerio)
Actinopterygii trnt1 36
  • 65.1 (n)
  • 70.86 (a)
trnt1 37
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002600 36
  • 54.91 (n)
  • 51.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2100 36
  • 51.98 (n)
  • 50.89 (a)
CG2100 37
  • 43 (a)
OneToOne
CG2100 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea hpo-31 36
  • 53.06 (n)
  • 46.35 (a)
hpo-31 37
  • 42 (a)
OneToOne
F55B12.4 38
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCA1 37
  • 19 (a)
OneToOne
CCA1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for TRNT1:
  • 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)

Evolution for TRNT1 Gene

ENSEMBL:
Gene Tree for TRNT1 (if available)
TreeFam:
Gene Tree for TRNT1 (if available)

Paralogs for TRNT1 Gene

Pseudogenes.org Pseudogenes for TRNT1 Gene

genes like me logo Genes that share paralogs with TRNT1: view

No data available for Paralogs for TRNT1 Gene

Variants for TRNT1 Gene

Sequence variations from dbSNP and Humsavar for TRNT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs14430 -- 3,130,759(-) GTGCC(C/T)GGCCT intron-variant
rs137291 -- 3,132,233(-) acata(C/T)gtgtg intron-variant
rs168024 -- 3,139,656(+) CCCTA(A/T)CATGA intron-variant
rs184579 -- 3,140,801(-) ccggc(C/T)GAGGG intron-variant
rs186743 -- 3,136,638(+) TGTTT(A/G)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRNT1 Gene

Variant ID Type Subtype PubMed ID
esv2422274 CNV Duplication 17116639
esv2751994 CNV Gain 17911159
nsv521796 CNV Loss 19592680
nsv876405 CNV Gain 21882294
dgv787n67 CNV Loss 20364138
nsv834604 CNV Gain 17160897

Relevant External Links for TRNT1 Gene

HapMap Linkage Disequilibrium report
TRNT1
Human Gene Mutation Database (HGMD)
TRNT1

Disorders for TRNT1 Gene

UniProtKB/Swiss-Prot

TRNT1_HUMAN
  • 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

Genetic Association Database (GAD)
TRNT1
Human Genome Epidemiology (HuGE) Navigator
TRNT1
genes like me logo Genes that share disorders with TRNT1: view

Publications for TRNT1 Gene

  1. Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases. (PMID: 11504732) Nagaike T. … Ueda T. (J. Biol. Chem. 2001) 2 3 4 23
  2. 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
  3. Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization. (PMID: 12729736) Augustin M.A. … Steegborn C. (J. Mol. Biol. 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PMID: 11256614) Simpson J.C. … Wiemann S. (EMBO Rep. 2000) 3 4

Products for TRNT1 Gene

Sources for TRNT1 Gene

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