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Protein

tRNA methyltransferase 10 homolog A

Gene

TRMT10A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

RNA methyltransferase.1 Publication

GO - Molecular functioni

  • methyltransferase activity Source: UniProtKB-KW
  • poly(A) RNA binding Source: UniProtKB
  • tRNA binding Source: UniProtKB

GO - Biological processi

  • tRNA methylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145331-MONOMER.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
tRNA methyltransferase 10 homolog A (EC:2.1.1.-)
Alternative name(s):
RNA (guanine-9-)-methyltransferase domain-containing protein 2
Gene namesi
Name:TRMT10A
Synonyms:RG9MTD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:28403. TRMT10A.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by microcephaly, mental retardation, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes.
See also OMIM:616033
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072420206G → R in MSSGM1; results in loss of activity; does not affect affinity for Gly-tRNA. 1 PublicationCorresponds to variant rs587777744dbSNPEnsembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi93587.
MalaCardsiTRMT10A.
MIMi616033. phenotype.
OpenTargetsiENSG00000145331.
Orphaneti391408. Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome.
PharmGKBiPA134979919.

Polymorphism and mutation databases

BioMutaiTRMT10A.
DMDMi74730533.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003113151 – 339tRNA methyltransferase 10 homolog AAdd BLAST339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei336PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TBZ6.
PaxDbiQ8TBZ6.
PeptideAtlasiQ8TBZ6.
PRIDEiQ8TBZ6.

PTM databases

iPTMnetiQ8TBZ6.
PhosphoSitePlusiQ8TBZ6.

Expressioni

Tissue specificityi

Expressed in embryonic and fetal brain. It is expressed throughout the dorsal telencephalon at 8 and 11 weeks of gestation, with highest expression in ventricular zone and marginal zone. Detected in cerebellar cortex and nuclei, but not in dorsal telencephalon, at later stages.1 Publication

Gene expression databases

BgeeiENSG00000145331.
CleanExiHS_RG9MTD2.
ExpressionAtlasiQ8TBZ6. baseline and differential.
GenevisibleiQ8TBZ6. HS.

Organism-specific databases

HPAiHPA047601.
HPA058241.

Interactioni

Subunit structurei

Interacts with tRNA.1 Publication

Protein-protein interaction databases

BioGridi125035. 13 interactors.
IntActiQ8TBZ6. 5 interactors.
STRINGi9606.ENSP00000273962.

Structurei

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi102 – 106Combined sources5
Helixi110 – 112Combined sources3
Helixi115 – 134Combined sources20
Beta strandi140 – 145Combined sources6
Helixi148 – 157Combined sources10
Helixi159 – 162Combined sources4
Helixi174 – 177Combined sources4
Helixi180 – 182Combined sources3
Beta strandi183 – 186Combined sources4
Beta strandi201 – 206Combined sources6
Helixi217 – 225Combined sources9
Beta strandi228 – 231Combined sources4
Turni235 – 237Combined sources3
Helixi248 – 261Combined sources14
Helixi264 – 271Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4FMWX-ray2.00A/B82-277[»]
ProteinModelPortaliQ8TBZ6.
SMRiQ8TBZ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini89 – 279SAM-dependent MTase TRM10-typePROSITE-ProRule annotationAdd BLAST191

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili52 – 81Sequence analysisAdd BLAST30

Sequence similaritiesi

Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family.PROSITE-ProRule annotation
Contains 1 SAM-dependent MTase TRM10-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2967. Eukaryota.
ENOG4111JE4. LUCA.
GeneTreeiENSGT00530000063169.
HOGENOMiHOG000195825.
HOVERGENiHBG108403.
InParanoidiQ8TBZ6.
KOiK15445.
OMAiCESASHD.
OrthoDBiEOG091G0I2X.
PhylomeDBiQ8TBZ6.
TreeFamiTF330972.

Family and domain databases

InterProiIPR028564. MT_TRM10-typ.
IPR007356. tRNA_m1G_MeTrfase_euk.
IPR016653. tRNA_MeTfrase_TRM10.
IPR016009. tRNA_MeTrfase_TRMD/TRM10.
[Graphical view]
PANTHERiPTHR13563. PTHR13563. 1 hit.
PfamiPF01746. tRNA_m1G_MT. 1 hit.
[Graphical view]
PIRSFiPIRSF016323. tRNA_m1G_mtfrase_met. 1 hit.
PROSITEiPS51675. SAM_MT_TRM10. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8TBZ6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSEMLPAFI ETSNVDKKQG INEDQEESQK PRLGEGCEPI SKRQMKKLIK
60 70 80 90 100
QKQWEEQREL RKQKRKEKRK RKKLERQCQM EPNSDGHDRK RVRRDVVHST
110 120 130 140 150
LRLIIDCSFD HLMVLKDIKK LHKQIQRCYA ENRRALHPVQ FYLTSHGGQL
160 170 180 190 200
KKNMDENDKG WVNWKDIHIK PEHYSELIKK EDLIYLTSDS PNILKELDES
210 220 230 240 250
KAYVIGGLVD HNHHKGLTYK QASDYGINHA QLPLGNFVKM NSRKVLAVNH
260 270 280 290 300
VFEIILEYLE TRDWQEAFFT ILPQRKGAVP TDKACESASH DNQSVRMEEG
310 320 330
GSDSDSSEEE YSRNELDSPH EEKQDKENHT ESTVNSLPH
Length:339
Mass (Da):39,719
Last modified:June 1, 2002 - v1
Checksum:i1FCDA258DD7CA04D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti292N → F in AAD21019 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03722282P → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_037223133R → Q.Corresponds to variant rs10007569dbSNPEnsembl.1
Natural variantiVAR_072420206G → R in MSSGM1; results in loss of activity; does not affect affinity for Gly-tRNA. 1 PublicationCorresponds to variant rs587777744dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK313548 mRNA. Translation: BAG36324.1.
CH471057 Genomic DNA. Translation: EAX06104.1.
BC028373 mRNA. Translation: AAH28373.1.
AF106046 mRNA. Translation: AAD21019.1.
CCDSiCCDS3650.1.
RefSeqiNP_001128137.1. NM_001134665.2.
NP_001128138.1. NM_001134666.2.
NP_689505.1. NM_152292.4.
XP_005263409.1. XM_005263352.3.
XP_006714480.1. XM_006714417.2.
UniGeneiHs.380412.

Genome annotation databases

EnsembliENST00000273962; ENSP00000273962; ENSG00000145331.
ENST00000394876; ENSP00000378342; ENSG00000145331.
ENST00000394877; ENSP00000378343; ENSG00000145331.
GeneIDi93587.
KEGGihsa:93587.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK313548 mRNA. Translation: BAG36324.1.
CH471057 Genomic DNA. Translation: EAX06104.1.
BC028373 mRNA. Translation: AAH28373.1.
AF106046 mRNA. Translation: AAD21019.1.
CCDSiCCDS3650.1.
RefSeqiNP_001128137.1. NM_001134665.2.
NP_001128138.1. NM_001134666.2.
NP_689505.1. NM_152292.4.
XP_005263409.1. XM_005263352.3.
XP_006714480.1. XM_006714417.2.
UniGeneiHs.380412.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4FMWX-ray2.00A/B82-277[»]
ProteinModelPortaliQ8TBZ6.
SMRiQ8TBZ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125035. 13 interactors.
IntActiQ8TBZ6. 5 interactors.
STRINGi9606.ENSP00000273962.

PTM databases

iPTMnetiQ8TBZ6.
PhosphoSitePlusiQ8TBZ6.

Polymorphism and mutation databases

BioMutaiTRMT10A.
DMDMi74730533.

Proteomic databases

EPDiQ8TBZ6.
PaxDbiQ8TBZ6.
PeptideAtlasiQ8TBZ6.
PRIDEiQ8TBZ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273962; ENSP00000273962; ENSG00000145331.
ENST00000394876; ENSP00000378342; ENSG00000145331.
ENST00000394877; ENSP00000378343; ENSG00000145331.
GeneIDi93587.
KEGGihsa:93587.

Organism-specific databases

CTDi93587.
DisGeNETi93587.
GeneCardsiTRMT10A.
H-InvDBHIX0004399.
HGNCiHGNC:28403. TRMT10A.
HPAiHPA047601.
HPA058241.
MalaCardsiTRMT10A.
MIMi616013. gene.
616033. phenotype.
neXtProtiNX_Q8TBZ6.
OpenTargetsiENSG00000145331.
Orphaneti391408. Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome.
PharmGKBiPA134979919.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2967. Eukaryota.
ENOG4111JE4. LUCA.
GeneTreeiENSGT00530000063169.
HOGENOMiHOG000195825.
HOVERGENiHBG108403.
InParanoidiQ8TBZ6.
KOiK15445.
OMAiCESASHD.
OrthoDBiEOG091G0I2X.
PhylomeDBiQ8TBZ6.
TreeFamiTF330972.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000145331-MONOMER.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.

Miscellaneous databases

GenomeRNAii93587.
PROiQ8TBZ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145331.
CleanExiHS_RG9MTD2.
ExpressionAtlasiQ8TBZ6. baseline and differential.
GenevisibleiQ8TBZ6. HS.

Family and domain databases

InterProiIPR028564. MT_TRM10-typ.
IPR007356. tRNA_m1G_MeTrfase_euk.
IPR016653. tRNA_MeTfrase_TRM10.
IPR016009. tRNA_MeTrfase_TRMD/TRM10.
[Graphical view]
PANTHERiPTHR13563. PTHR13563. 1 hit.
PfamiPF01746. tRNA_m1G_MT. 1 hit.
[Graphical view]
PIRSFiPIRSF016323. tRNA_m1G_mtfrase_met. 1 hit.
PROSITEiPS51675. SAM_MT_TRM10. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM10A_HUMAN
AccessioniPrimary (citable) accession number: Q8TBZ6
Secondary accession number(s): B2R8X7, Q9Y2T9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.