TRMT5 (tRNA methyltransferase 5)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57570 |
Gene nameGene Name - the full gene name approved by the HGNC.
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TRNA methyltransferase 5 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TRMT5 |
SynonymsGene synonyms aliases
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COXPD26, KIAA1393, PNSED, TRM5 |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q23.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-ad |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs746738473 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs1057517685 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q32P41 |
Protein name |
tRNA (guanine(37)-N(1))-methyltransferase (EC 2.1.1.228) (M1G-methyltransferase) (tRNA [GM37] methyltransferase) (tRNA methyltransferase 5 homolog) |
Protein function |
Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first s |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02475 |
Met_10 |
198 → 419 |
Met-10+ like-protein |
Family |
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Sequence |
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Sequence length |
509 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Combined oxidative phosphorylation deficiency |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, Combined oxidative phosphorylation defect type 26 |
rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774 |
26189817, 29021354 |
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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Brain atrophy |
Brain atrophy |
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Cerebral atrophy |
Cerebral atrophy |
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Cirrhosis |
Cirrhosis |
rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 |
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Malabsorption syndrome |
Malabsorption Syndrome |
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Microstomia |
Microstomia |
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