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TRNT1 (tRNA nucleotidyl transferase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51095
Gene nameGene Name - the full gene name approved by the HGNC.
TRNA nucleotidyl transferase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRNT1
SynonymsGene synonyms aliases
CCA1, CGI-47, MtCCA, RPEM, SIFD
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p26.2
SummarySummary of gene provided in NCBI Entrez 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 tR
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs370011798 T>C Pathogenic Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs606231287 G>C,T Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs606231289 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs606231290 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs761516140 C>G,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT032454 hsa-let-7b-5p Proteomics 18668040
MIRT447873 hsa-miR-3168 PAR-CLIP 22100165
MIRT447872 hsa-miR-148b-5p PAR-CLIP 22100165
MIRT447871 hsa-miR-6874-3p PAR-CLIP 22100165
MIRT447870 hsa-miR-5584-3p PAR-CLIP 22100165
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IDA 11504732
GO:0001680 Process TRNA 3'-terminal CCA addition IDA 25193871
GO:0005524 Function ATP binding TAS 11504732
GO:0005654 Component Nucleoplasm TAS
GO:0005739 Component Mitochondrion IDA 11504732
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96Q11
Protein name CCA tRNA nucleotidyltransferase 1, mitochondrial (EC 2.7.7.72) (Mitochondrial tRNA nucleotidyl transferase, CCA-adding) (mt CCA-adding enzyme) (mt tRNA CCA-diphosphorylase) (mt tRNA CCA-pyrophosphorylase) (mt tRNA adenylyltransferase)
Protein function Nucleotidyltransferase that catalyzes the addition and repair of the essential 3'-terminal CCA sequence in tRNAs, which is necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates (PubMed:
PDB 1OU5 , 4X4W , 8CBM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01743 PolyA_pol
59 → 182
Poly A polymerase head domain
 Domain
PF12627 PolyA_pol_RNAbd
215 → 272
Probable RNA and SrmB- binding site of polymerase A
 Domain
Sequence 
MLRCLYHWHRPVLNRRWSRLCLPKQYLFTMKLQSPEFQSLFTEGLKSLTELFVKENHELR
IAGGAVRDLLNGVKPQDIDFATTATPTQMKEMFQSAGIRMINNRGEKHGTITARLHEENF
EITTLRIDVTTDGRHAEVEFTTDWQKDAERRDLTINSMFLGFDGTLFDYFNGYEDLKNKK
VRFVGHAKQRIQEDYLRILRYFRFYGRIVDKPGDHDPETLEAIAENAKGLAGISGERIWV
ELKKILVGNHVNHLIHLIYDLDVAPYIGLPANASLEEFDKVSKNVDGFSPKPVTLLASLF
KVQDDVTKLDLRLKIAKEEKNLGLFIVKNRKDLIKATDSSDPLKPYQDFIIDSREPDATT
RVCELLKYQGEHCLLKEMQQWSIPPFPVSGHDIRKVGISSGKEIGALLQQLREQWKKSGY
QMEKDELLSYIKKT
Sequence length 434
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    tRNA processing in the nucleus
tRNA processing in the mitochondrion
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Microcytic hypochromic anemia (disorder) rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Elliptocytosis Elliptocytosis, Hereditary rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Unknown
Disease name Disease term dbSNP ID References
Epiretinal membrane Epiretinal Membrane
Lymphopenia Lymphopenia
Nyctalopia Nyctalopia

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