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Protein

Probable tRNA(His) guanylyltransferase

Gene

THG1L

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

Functioni

Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis.1 Publication

Catalytic activityi

p-tRNA(His) + ATP + GTP = pppG-P-tRNA(His) + AMP + diphosphate.

Cofactori

Mg2+1 PublicationNote: Binds 2 magnesium ions per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi58Magnesium 1; catalytic1 Publication1
Metal bindingi58Magnesium 2; catalytic1 Publication1
Metal bindingi59Magnesium 1; via carbonyl oxygen; catalytic1 Publication1
Metal bindingi105Magnesium 1; catalytic1 Publication1
Metal bindingi105Magnesium 2; catalytic1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi58 – 63GTP1 Publication6
Nucleotide bindingi104 – 105GTP1 Publication2

GO - Molecular functioni

  • ATP binding Source: BHF-UCL
  • GTP binding Source: BHF-UCL
  • identical protein binding Source: BHF-UCL
  • magnesium ion binding Source: BHF-UCL
  • nucleotidyltransferase activity Source: Reactome
  • tRNA binding Source: BHF-UCL
  • tRNA guanylyltransferase activity Source: UniProtKB

GO - Biological processi

  • protein homotetramerization Source: UniProtKB
  • tRNA modification Source: UniProtKB
  • tRNA processing Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113272-MONOMER.
BRENDAi2.7.7.79. 2681.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tRNA(His) guanylyltransferase (EC:2.7.7.79)
Alternative name(s):
Interphase cytoplasmic foci protein 45
tRNA-histidine guanylyltransferase
Gene namesi
Name:THG1L
Synonyms:ICF45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26053. THG1L.

Subcellular locationi

  • Cytoplasm 1 Publication

  • Note: Found near the nuclear membrane.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi58D → A: Reduces activity by 99.5%. 1 Publication1
Mutagenesisi63H → A: Slightly reduced enzyme activity. 1 Publication1
Mutagenesisi104S → A: Slightly reduced enzyme activity. 1 Publication1
Mutagenesisi105D → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi106E → A: Reduces activity by 95%. 1 Publication1
Mutagenesisi127T → A: Abolishes oligomerization. Loss of enzyme activity. 1 Publication1
Mutagenesisi181H → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi216K → A: Reduces activity by 98.5%. 1 Publication1
Mutagenesisi227N → A: Loss of enzyme activity. 1 Publication1

Organism-specific databases

DisGeNETi54974.
OpenTargetsiENSG00000113272.
PharmGKBiPA162405691.

Polymorphism and mutation databases

BioMutaiTHG1L.
DMDMi146325755.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002849841 – 298Probable tRNA(His) guanylyltransferaseAdd BLAST298

Proteomic databases

EPDiQ9NWX6.
MaxQBiQ9NWX6.
PaxDbiQ9NWX6.
PeptideAtlasiQ9NWX6.
PRIDEiQ9NWX6.

PTM databases

iPTMnetiQ9NWX6.
PhosphoSitePlusiQ9NWX6.

Expressioni

Tissue specificityi

Expressed in many tissues.1 Publication

Gene expression databases

BgeeiENSG00000113272.
CleanExiHS_THG1L.
ExpressionAtlasiQ9NWX6. baseline and differential.
GenevisibleiQ9NWX6. HS.

Organism-specific databases

HPAiHPA035877.
HPA035878.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SDCBPO005603EBI-746510,EBI-727004
TERF1P542742EBI-746510,EBI-710997

GO - Molecular functioni

  • identical protein binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi120311. 29 interactors.
DIPiDIP-59479N.
IntActiQ9NWX6. 6 interactors.
MINTiMINT-4873002.
STRINGi9606.ENSP00000231198.

Structurei

Secondary structure

1298
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi36 – 41Combined sources6
Beta strandi51 – 59Combined sources9
Helixi62 – 68Combined sources7
Helixi77 – 93Combined sources17
Beta strandi94 – 103Combined sources10
Beta strandi106 – 111Combined sources6
Turni117 – 120Combined sources4
Helixi122 – 139Combined sources18
Helixi141 – 144Combined sources4
Beta strandi146 – 148Combined sources3
Beta strandi156 – 165Combined sources10
Helixi166 – 195Combined sources30
Helixi201 – 208Combined sources8
Helixi213 – 224Combined sources12
Helixi228 – 230Combined sources3
Helixi233 – 237Combined sources5
Beta strandi239 – 243Combined sources5
Beta strandi274 – 277Combined sources4
Beta strandi281 – 283Combined sources3
Helixi284 – 289Combined sources6
Helixi292 – 295Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OTBX-ray2.95A/B30-298[»]
3OTCX-ray3.01A/B30-298[»]
3OTDX-ray2.28A/B30-298[»]
3OTEX-ray2.56A/B30-298[»]
ProteinModelPortaliQ9NWX6.
SMRiQ9NWX6.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NWX6.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2721. Eukaryota.
COG4021. LUCA.
GeneTreeiENSGT00390000011705.
HOGENOMiHOG000204890.
HOVERGENiHBG054289.
InParanoidiQ9NWX6.
KOiK10761.
OMAiRFEYVKS.
OrthoDBiEOG091G0GYS.
PhylomeDBiQ9NWX6.
TreeFamiTF325119.

Family and domain databases

InterProiIPR025845. Thg1_C_dom.
IPR024956. tRNAHis_GuaTrfase_cat.
IPR007537. tRNAHis_GuaTrfase_Thg1.
[Graphical view]
PANTHERiPTHR12729. PTHR12729. 1 hit.
PfamiPF04446. Thg1. 1 hit.
PF14413. Thg1C. 1 hit.
[Graphical view]
PIRSFiPIRSF028980. tRNAHis_guanylyltransferase. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NWX6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWGACKVKVH DSLATISITL RRYLRLGATM AKSKFEYVRD FEADDTCLAH
60 70 80 90 100
CWVVVRLDGR NFHRFAEKHN FAKPNDSRAL QLMTKCAQTV MEELEDIVIA
110 120 130 140 150
YGQSDEYSFV FKRKTNWFKR RASKFMTHVA SQFASSYVFY WRDYFEDQPL
160 170 180 190 200
LYPPGFDGRV VVYPSNQTLK DYLSWRQADC HINNLYNTVF WALIQQSGLT
210 220 230 240 250
PVQAQGRLQG TLAADKNEIL FSEFNINYNN ELPMYRKGTV LIWQKVDEVM
260 270 280 290
TKEIKLPTEM EGKKMAVTRT RTKPVPLHCD IIGDAFWKEH PEILDEDS
Length:298
Mass (Da):34,831
Last modified:May 1, 2007 - v2
Checksum:iA6C941B75611C448
GO

Sequence cautioni

The sequence AAH01523 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH01852 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti57L → Q in BAD96839 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031871232L → P.4 PublicationsCorresponds to variant rs2270812dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY463216 mRNA. Translation: AAS21134.1.
AL136669 mRNA. Translation: CAB66604.1.
AK000553 mRNA. Translation: BAA91249.1.
AK021663 mRNA. Translation: BAB13870.1.
CR533503 mRNA. Translation: CAG38534.1.
AK223119 mRNA. Translation: BAD96839.1.
CH471062 Genomic DNA. Translation: EAW61590.1.
CH471062 Genomic DNA. Translation: EAW61591.1.
BC001523 mRNA. Translation: AAH01523.2. Different initiation.
BC001852 mRNA. Translation: AAH01852.2. Different initiation.
BC023521 mRNA. Translation: AAH23521.1.
CCDSiCCDS4341.1.
RefSeqiNP_001304753.1. NM_001317824.1.
NP_001304754.1. NM_001317825.1.
NP_001304755.1. NM_001317826.1.
NP_060342.2. NM_017872.4.
UniGeneiHs.353090.
Hs.734786.

Genome annotation databases

EnsembliENST00000231198; ENSP00000231198; ENSG00000113272.
GeneIDi54974.
KEGGihsa:54974.
UCSCiuc003lxd.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY463216 mRNA. Translation: AAS21134.1.
AL136669 mRNA. Translation: CAB66604.1.
AK000553 mRNA. Translation: BAA91249.1.
AK021663 mRNA. Translation: BAB13870.1.
CR533503 mRNA. Translation: CAG38534.1.
AK223119 mRNA. Translation: BAD96839.1.
CH471062 Genomic DNA. Translation: EAW61590.1.
CH471062 Genomic DNA. Translation: EAW61591.1.
BC001523 mRNA. Translation: AAH01523.2. Different initiation.
BC001852 mRNA. Translation: AAH01852.2. Different initiation.
BC023521 mRNA. Translation: AAH23521.1.
CCDSiCCDS4341.1.
RefSeqiNP_001304753.1. NM_001317824.1.
NP_001304754.1. NM_001317825.1.
NP_001304755.1. NM_001317826.1.
NP_060342.2. NM_017872.4.
UniGeneiHs.353090.
Hs.734786.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OTBX-ray2.95A/B30-298[»]
3OTCX-ray3.01A/B30-298[»]
3OTDX-ray2.28A/B30-298[»]
3OTEX-ray2.56A/B30-298[»]
ProteinModelPortaliQ9NWX6.
SMRiQ9NWX6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120311. 29 interactors.
DIPiDIP-59479N.
IntActiQ9NWX6. 6 interactors.
MINTiMINT-4873002.
STRINGi9606.ENSP00000231198.

PTM databases

iPTMnetiQ9NWX6.
PhosphoSitePlusiQ9NWX6.

Polymorphism and mutation databases

BioMutaiTHG1L.
DMDMi146325755.

Proteomic databases

EPDiQ9NWX6.
MaxQBiQ9NWX6.
PaxDbiQ9NWX6.
PeptideAtlasiQ9NWX6.
PRIDEiQ9NWX6.

Protocols and materials databases

DNASUi54974.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000231198; ENSP00000231198; ENSG00000113272.
GeneIDi54974.
KEGGihsa:54974.
UCSCiuc003lxd.4. human.

Organism-specific databases

CTDi54974.
DisGeNETi54974.
GeneCardsiTHG1L.
HGNCiHGNC:26053. THG1L.
HPAiHPA035877.
HPA035878.
neXtProtiNX_Q9NWX6.
OpenTargetsiENSG00000113272.
PharmGKBiPA162405691.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2721. Eukaryota.
COG4021. LUCA.
GeneTreeiENSGT00390000011705.
HOGENOMiHOG000204890.
HOVERGENiHBG054289.
InParanoidiQ9NWX6.
KOiK10761.
OMAiRFEYVKS.
OrthoDBiEOG091G0GYS.
PhylomeDBiQ9NWX6.
TreeFamiTF325119.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113272-MONOMER.
BRENDAi2.7.7.79. 2681.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.

Miscellaneous databases

ChiTaRSiTHG1L. human.
EvolutionaryTraceiQ9NWX6.
GeneWikiiTHG1L.
GenomeRNAii54974.
PROiQ9NWX6.

Gene expression databases

BgeeiENSG00000113272.
CleanExiHS_THG1L.
ExpressionAtlasiQ9NWX6. baseline and differential.
GenevisibleiQ9NWX6. HS.

Family and domain databases

InterProiIPR025845. Thg1_C_dom.
IPR024956. tRNAHis_GuaTrfase_cat.
IPR007537. tRNAHis_GuaTrfase_Thg1.
[Graphical view]
PANTHERiPTHR12729. PTHR12729. 1 hit.
PfamiPF04446. Thg1. 1 hit.
PF14413. Thg1C. 1 hit.
[Graphical view]
PIRSFiPIRSF028980. tRNAHis_guanylyltransferase. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTHG1_HUMAN
AccessioniPrimary (citable) accession number: Q9NWX6
Secondary accession number(s): D3DQJ5
, Q53G12, Q7L5R3, Q9H0S2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: November 30, 2016
This is version 128 of the entry and version 2 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 5
    Human chromosome 5: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.