Q32P41

PR
Gene name
TRMT5
Protein name
tRNA (guanine(37)-N1)-methyltransferase
Names
M1G-methyltransferase, tRNA [GM37] methyltransferase, tRNA methyltransferase 5 homolog
Species
Homo sapiens (Human)
KEGG Pathway
hsa:57570
EC number
2.1.1.228: Methyltransferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

449-509 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q32P41

Entry ID Method Resolution Chain Position Source
AF-Q32P41-F1 Predicted AlphaFoldDB

5 variants for Q32P41

Variant ID(s) Position Change Description Diseaes Association Provenance
rs746738473
RCV002523899
CA7213806
RCV000412658
VAR_075655
 291 R>H Combined oxidative phosphorylation defect type 26 PNSED; decreased mitochondrial tRNA methylation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV000899788
CA7213804
rs2296928
VAR_028900
RCV001034692
 294 E>A Combined oxidative phosphorylation defect type 26 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA16042261
rs1057517685
RCV000412548
VAR_075656
 386 M>V Combined oxidative phosphorylation defect type 26 PNSED; decreased mitochondrial tRNA methylation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
CA261752288
rs7142228
VAR_028898
 217 S>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA261751433
rs2882686
VAR_028899
 255 L>P No ClinGen
UniProt
Ensembl
dbSNP

1 associated diseases with Q32P41

[MIM: 616539]: Combined oxidative phosphorylation deficiency 26 (COXPD26)

A mitochondrial disorder characterized by lactic acidosis, multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, and additional variable features including hypertrophic cardiomyopathy, exercise intolerance, and failure to thrive. {ECO:0000269|PubMed:26189817}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A mitochondrial disorder characterized by lactic acidosis, multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, and additional variable features including hypertrophic cardiomyopathy, exercise intolerance, and failure to thrive. {ECO:0000269|PubMed:26189817}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q32P41

Type Name Position InterPro Accession
domain SAM-dependent methyltransferase TRM5/TYW2-type 199 - 470 IPR030382

Functions

Description
EC Number 2.1.1.228 Methyltransferases
Subcellular Localization
  • Mitochondrion matrix
  • Nucleus
  • Cytoplasm
  • Predominantly in the mitochondria and in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
tRNA (guanine(37)-N(1))-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + guanine(37) in tRNA = N(1)-methylguanine(37) in tRNA + S-adenosyl-L-homocysteine.
tRNA (guanine-N1-)-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing N1-methylguanine.
tRNA methyltransferase activity Catalysis of the transfer of a methyl group from a donor to a nucleoside residue in a tRNA molecule.

3 GO annotations of biological process

Name Definition
mitochondrial tRNA methylation The posttranscriptional addition of methyl groups to specific residues in a mitochondrial tRNA molecule.
tRNA methylation The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule.
tRNA N1-guanine methylation The process whereby a guanine in tRNA is methylated at position N1 of the guanine.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38793 TRM5 tRNA (guanine(37)-N1)-methyltransferase Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
F6HH45 VIT_11s0016g04350 tRNA (guanine(37)-N1)-methyltransferase 2 Vitis vinifera (Grape) PR
A8WHT1 C53A5.17 tRNA (guanine(37)-N1)-methyltransferase Caenorhabditis elegans PR
C5XX79 Sb04g025390 tRNA (guanine(37)-N1)-methyltransferase Sorghum bicolor (Sorghum) (Sorghum vulgare) PR
Q93YU6 At3g56120 tRNA (guanine(37)-N1)-methyltransferase 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MVLWILWRPF GFSGRFLKLE SHSITESKSL IPVAWTSLTQ MLLEAPGIFL LGQRKRFSTM
70 80 90 100 110 120
PETETHERET ELFSPPSDVR GMTKLDRTAF KKTVNIPVLK VRKEIVSKLM RSLKRAALQR
130 140 150 160 170 180
PGIRRVIEDP EDKESRLIML DPYKIFTHDS FEKAELSVLE QLNVSPQISK YNLELTYEHF
190 200 210 220 230 240
KSEEILRAVL PEGQDVTSGF SRIGHIAHLN LRDHQLSFKH LIGQVMIDKN PGITSAVNKI
250 260 270 280 290 300
NNIDNMYRNF QMEVLSGEQN MMTKVRENNY TYEFDFSKVY WNPRLSTEHS RITELLKPGD
310 320 330 340 350 360
VLFDVFAGVG PFAIPVAKKN CTVFANDLNP ESHKWLLYNC KLNKVDQKVK VFNLDGKDFL
370 380 390 400 410 420
QGPVKEELMQ LLGLSKERKP SVHVVMNLPA KAIEFLSAFK WLLDGQPCSS EFLPIVHCYS
430 440 450 460 470 480
FSKDANPAED VRQRAGAVLG ISLEACSSVH LVRNVAPNKE MLCITFQIPA SVLYKNQTRN
490 500
PENHEDPPLK RQRTAEAFSD EKTQIVSNT