UniProtKB - Q9UET6 (TRM7_HUMAN)
Protein
Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
Gene
FTSJ1
Organism
Homo sapiens (Human)
Status
Functioni
Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.UniRule annotation
Catalytic activityi
- cytidine32/guanosine34 in tRNA + 2 S-adenosyl-L-methionine = 2'-O-methylcytidine32/2'-O-methylguanosine34 in tRNA + 2 H+ + 2 S-adenosyl-L-homocysteineUniRule annotationEC:2.1.1.205UniRule annotation
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 53 | S-adenosyl-L-methionine; via amide nitrogenUniRule annotation | 1 | |
Binding sitei | 55 | S-adenosyl-L-methionine; via amide nitrogenUniRule annotation | 1 | |
Binding sitei | 75 | S-adenosyl-L-methionineUniRule annotation | 1 | |
Binding sitei | 91 | S-adenosyl-L-methionineUniRule annotation | 1 | |
Binding sitei | 116 | S-adenosyl-L-methionineUniRule annotation | 1 | |
Active sitei | 156 | Proton acceptorUniRule annotation | 1 |
GO - Molecular functioni
- tRNA (cytosine-2'-O-)-methyltransferase activity Source: Reactome
- tRNA (guanosine-2'-O-)-methyltransferase activity Source: Reactome
- tRNA methyltransferase activity Source: GO_Central
GO - Biological processi
- cytoplasmic translation Source: GO_Central
- tRNA methylation Source: GO_Central
- tRNA modification Source: Reactome
- tRNA nucleoside ribose methylation Source: UniProtKB-UniRule
Keywordsi
Molecular function | Methyltransferase, Transferase |
Biological process | tRNA processing |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
Reactomei | R-HSA-6782315 tRNA modification in the nucleus and cytosol |
Names & Taxonomyi
Protein namesi | Recommended name: Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferaseUniRule annotation (EC:2.1.1.205UniRule annotation)Alternative name(s): 2'-O-ribose RNA methyltransferase TRM7 homologUniRule annotation Protein ftsJ homolog 1UniRule annotation |
Gene namesi | Name:FTSJ1UniRule annotation ORF Names:JM23 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13254 FTSJ1 |
MIMi | 300499 gene |
neXtProti | NX_Q9UET6 |
Subcellular locationi
Other locations
- Cytoplasm UniRule annotation
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked 44 (MRX44)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Related information in OMIMKeywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 24140 |
MalaCardsi | FTSJ1 |
MIMi | 309549 phenotype |
OpenTargetsi | ENSG00000068438 |
Orphaneti | 777 X-linked non-syndromic intellectual disability |
PharmGKBi | PA28417 |
Miscellaneous databases
Pharosi | Q9UET6 |
Polymorphism and mutation databases
BioMutai | FTSJ1 |
DMDMi | 12643879 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000155575 | 1 – 329 | Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferaseAdd BLAST | 329 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 271 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UET6 |
jPOSTi | Q9UET6 |
MassIVEi | Q9UET6 |
PaxDbi | Q9UET6 |
PeptideAtlasi | Q9UET6 |
PRIDEi | Q9UET6 |
ProteomicsDBi | 84153 [Q9UET6-1] 84154 [Q9UET6-2] |
PTM databases
iPTMneti | Q9UET6 |
PhosphoSitePlusi | Q9UET6 |
Expressioni
Tissue specificityi
Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.1 Publication
Gene expression databases
Bgeei | ENSG00000068438 Expressed in 229 organ(s), highest expression level in epithelium of bronchus |
ExpressionAtlasi | Q9UET6 baseline and differential |
Genevisiblei | Q9UET6 HS |
Organism-specific databases
HPAi | HPA002718 |
Interactioni
Protein-protein interaction databases
BioGridi | 117291, 18 interactors |
IntActi | Q9UET6, 18 interactors |
STRINGi | 9606.ENSP00000326948 |
Family & Domainsi
Sequence similaritiesi
Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. TRM7 subfamily.UniRule annotation
Phylogenomic databases
eggNOGi | KOG1099 Eukaryota COG0293 LUCA |
GeneTreei | ENSGT00730000111146 |
HOGENOMi | HOG000162368 |
KOi | K14864 |
OMAi | AFIVCLN |
OrthoDBi | 1362679at2759 |
PhylomeDBi | Q9UET6 |
TreeFami | TF314897 |
Family and domain databases
HAMAPi | MF_01547 RNA_methyltr_E, 1 hit MF_03162 RNA_methyltr_E_TRM7, 1 hit |
InterProi | View protein in InterPro IPR028590 RNA_methyltr_E_Trm7 IPR015507 rRNA-MeTfrase_E IPR002877 rRNA_MeTrfase_FtsJ_dom IPR029063 SAM-dependent_MTases |
PANTHERi | PTHR10920:SF12 PTHR10920:SF12, 1 hit |
Pfami | View protein in Pfam PF01728 FtsJ, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UET6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGRTSKDKRD VYYRLAKENG WRARSAFKLL QLDKEFQLFQ GVTRAVDLCA
60 70 80 90 100
APGSWSQVLS QKIGGQGSGH VVAVDLQAMA PLPGVVQIQG DITQLSTAKE
110 120 130 140 150
IIQHFKGCPA DLVVCDGAPD VTGLHDVDEY MQAQLLLAAL NIATHVLKPG
160 170 180 190 200
GCFVAKIFRG RDVTLLYSQL QVFFSSVLCA KPRSSRNSSI EAFAVCQGYD
210 220 230 240 250
PPEGFIPDLS KPLLDHSYDP DFNQLDGPTR IIVPFVTCGD LSSYDSDRSY
260 270 280 290 300
PLDLEGGSEY KYTPPTQPPI SPPYQEACTL KRKGQLAKEI RPQDCPISRV
310 320
DTFPQPLAAP QCHTLLAPEM EDNEMSCSP
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB7Z4K4 | B7Z4K4_HUMAN | Putative tRNA (cytidine(32)/guanosi... | FTSJ1 | 192 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041419 | 219 – 220 | Missing in isoform 2. 1 Publication | 2 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF063015 mRNA Translation: AAC33734.1 AJ005892 mRNA Translation: CAA06749.1 AK315138 mRNA Translation: BAG37587.1 AF196972 Genomic DNA No translation available. CH471224 Genomic DNA Translation: EAW50782.1 BC023584 mRNA Translation: AAH23584.1 |
CCDSi | CCDS14294.1 [Q9UET6-1] CCDS14295.1 [Q9UET6-2] |
RefSeqi | NP_001269086.1, NM_001282157.1 NP_036412.1, NM_012280.3 [Q9UET6-1] NP_803188.1, NM_177439.2 [Q9UET6-2] XP_005272652.1, XM_005272595.1 [Q9UET6-2] |
Genome annotation databases
Ensembli | ENST00000019019; ENSP00000019019; ENSG00000068438 [Q9UET6-2] ENST00000348411; ENSP00000326948; ENSG00000068438 [Q9UET6-1] |
GeneIDi | 24140 |
KEGGi | hsa:24140 |
UCSCi | uc004djn.3 human [Q9UET6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF063015 mRNA Translation: AAC33734.1 AJ005892 mRNA Translation: CAA06749.1 AK315138 mRNA Translation: BAG37587.1 AF196972 Genomic DNA No translation available. CH471224 Genomic DNA Translation: EAW50782.1 BC023584 mRNA Translation: AAH23584.1 |
CCDSi | CCDS14294.1 [Q9UET6-1] CCDS14295.1 [Q9UET6-2] |
RefSeqi | NP_001269086.1, NM_001282157.1 NP_036412.1, NM_012280.3 [Q9UET6-1] NP_803188.1, NM_177439.2 [Q9UET6-2] XP_005272652.1, XM_005272595.1 [Q9UET6-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 117291, 18 interactors |
IntActi | Q9UET6, 18 interactors |
STRINGi | 9606.ENSP00000326948 |
PTM databases
iPTMneti | Q9UET6 |
PhosphoSitePlusi | Q9UET6 |
Polymorphism and mutation databases
BioMutai | FTSJ1 |
DMDMi | 12643879 |
Proteomic databases
EPDi | Q9UET6 |
jPOSTi | Q9UET6 |
MassIVEi | Q9UET6 |
PaxDbi | Q9UET6 |
PeptideAtlasi | Q9UET6 |
PRIDEi | Q9UET6 |
ProteomicsDBi | 84153 [Q9UET6-1] 84154 [Q9UET6-2] |
Protocols and materials databases
DNASUi | 24140 |
Genome annotation databases
Ensembli | ENST00000019019; ENSP00000019019; ENSG00000068438 [Q9UET6-2] ENST00000348411; ENSP00000326948; ENSG00000068438 [Q9UET6-1] |
GeneIDi | 24140 |
KEGGi | hsa:24140 |
UCSCi | uc004djn.3 human [Q9UET6-1] |
Organism-specific databases
CTDi | 24140 |
DisGeNETi | 24140 |
GeneCardsi | FTSJ1 |
HGNCi | HGNC:13254 FTSJ1 |
HPAi | HPA002718 |
MalaCardsi | FTSJ1 |
MIMi | 300499 gene 309549 phenotype |
neXtProti | NX_Q9UET6 |
OpenTargetsi | ENSG00000068438 |
Orphaneti | 777 X-linked non-syndromic intellectual disability |
PharmGKBi | PA28417 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1099 Eukaryota COG0293 LUCA |
GeneTreei | ENSGT00730000111146 |
HOGENOMi | HOG000162368 |
KOi | K14864 |
OMAi | AFIVCLN |
OrthoDBi | 1362679at2759 |
PhylomeDBi | Q9UET6 |
TreeFami | TF314897 |
Enzyme and pathway databases
Reactomei | R-HSA-6782315 tRNA modification in the nucleus and cytosol |
Miscellaneous databases
ChiTaRSi | FTSJ1 human |
GeneWikii | FTSJ1 |
GenomeRNAii | 24140 |
Pharosi | Q9UET6 |
PROi | PR:Q9UET6 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000068438 Expressed in 229 organ(s), highest expression level in epithelium of bronchus |
ExpressionAtlasi | Q9UET6 baseline and differential |
Genevisiblei | Q9UET6 HS |
Family and domain databases
HAMAPi | MF_01547 RNA_methyltr_E, 1 hit MF_03162 RNA_methyltr_E_TRM7, 1 hit |
InterProi | View protein in InterPro IPR028590 RNA_methyltr_E_Trm7 IPR015507 rRNA-MeTfrase_E IPR002877 rRNA_MeTrfase_FtsJ_dom IPR029063 SAM-dependent_MTases |
PANTHERi | PTHR10920:SF12 PTHR10920:SF12, 1 hit |
Pfami | View protein in Pfam PF01728 FtsJ, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TRM7_HUMAN | |
Accessioni | Q9UET6Primary (citable) accession number: Q9UET6 Secondary accession number(s): B2RCJ0, O75670 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | December 1, 2000 | |
Last modified: | October 16, 2019 | |
This is version 170 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - SIMILARITY comments
Index of protein domains and families - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot