Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57570
Gene name Gene Name - the full gene name approved by the HGNC.
TRNA methyltransferase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRMT5
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD26, KIAA1393, PNSED, TRM5
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046645 hsa-miR-222-3p CLASH 23622248
MIRT711674 hsa-miR-4686 HITS-CLIP 19536157
MIRT711673 hsa-miR-4720-5p HITS-CLIP 19536157
MIRT711672 hsa-miR-4799-3p HITS-CLIP 19536157
MIRT711671 hsa-miR-5588-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002939 Process TRNA N1-guanine methylation IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611023 23141 ENSG00000126814
Protein
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
Sequence
MVLWILWRPFGFSGRFLKLESHSITESKSLIPVAWTSLTQMLLEAPGIFLLGQRKRFSTM
PETETHERETELFSPPSDVRGMTKLDRTAFKKTVNIPVLKVRKEIVSKLMRSLKRAALQR
PGIRRVIEDPEDKESRLIMLDPYKIFTHDSFEKAELSVLEQLNVSPQISKYNLELTYEHF
KSEEILRAVLPEGQDVTSGFSRIGHIAHLNLRDHQLSFKHLIGQVMIDKNPGITSAVNKI
NNIDNMYRNFQMEVLSGEQNMMTKVRENNYTYEFDFSKVYWNPRLSTEHSRITELLKPGD
VLFDVFAGVGPFAIPVAKKNCTVFANDLNPESHKWLLYNCKLNKVDQKVKVFNLDGKDFL
QGPVKEELMQLLGLSKERKPSVHVVMNLPAKAIEFLSAFKWLLDGQPCSSEFLPIVHCY
S
FSKDANPAEDVRQRAGAVLGISLEACSSVHLVRNVAPNKEMLCITFQIPASVLYKNQTRN
PENHEDPPLKRQRTAEAFSDEKTQIVSNT
Sequence length 509
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 26 rs1057517685 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 26189817
Carcinogenesis Associate 36632750
Carcinoma Hepatocellular Associate 36632750
Cardiomyopathy Hypertrophic Associate 26189817
Cerebral Palsy Associate 35109800
Deafness Associate 33398350
Mitochondrial Diseases Associate 26189817
Neoplasm Metastasis Stimulate 36632750
Respiratory Insufficiency Associate 29222331, 33398350