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UniProtKB - Q9NWX6 (THG1_HUMAN)

Entry version 155 (02 Dec 2020)
Sequence version 2 (01 May 2007)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223).1 Publication2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi58 – 63GTP1 Publication6
Nucleotide bindingi104 – 105GTP1 Publication2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNucleotidyltransferase, Transferase
Biological processtRNA processing
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.7.79, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NWX6

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6782315, tRNA modification in the nucleus and cytosol

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Probable tRNA(His) guanylyltransferase (EC:2.7.7.791 Publication)
Alternative name(s):
Induced in high glucose-11 Publication
Short name:
IHG-11 Publication
Interphase cytoplasmic foci protein 45
tRNA-histidine guanylyltransferase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:THG1L
Synonyms:ICF45
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000113272.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:26053, THG1L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		618802, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NWX6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 28 (SCA28)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08390155V → A in SCA28; decreased mitochondrial fusion. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		54974

MalaCards human disease database

More...MalaCardsi		THG1L
MIMi610246, phenotype

Open Targets

More...OpenTargetsi		ENSG00000113272

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162405691

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NWX6, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		THG1L

Domain mapping of disease mutations (DMDM)

More...DMDMi		146325755

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002849841 – 298Probable tRNA(His) guanylyltransferaseAdd BLAST298

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NWX6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NWX6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NWX6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NWX6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NWX6

PeptideAtlas

More...PeptideAtlasi		Q9NWX6

PRoteomics IDEntifications database

More...PRIDEi		Q9NWX6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82998

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NWX6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NWX6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in many tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000113272, Expressed in testis and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NWX6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NWX6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000113272, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer (PubMed:21059936).

Interacts with MFN1 and MFN2; functions as a guanyl-nucleotide exchange factor/GEF for MFN2 and also probably MFN1 (PubMed:25008184).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120311, 38 interactors

Database of interacting proteins

More...DIPi		DIP-59479N

Protein interaction database and analysis system

More...IntActi		Q9NWX6, 15 interactors

Molecular INTeraction database

More...MINTi		Q9NWX6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000231198

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NWX6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1298
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NWX6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9NWX6

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the tRNA(His) guanylyltransferase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011705

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_044271_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NWX6

Identification of Orthologs from Complete Genome Data

More...OMAi		TAVMQEF

Database of Orthologous Groups

More...OrthoDBi		1152974at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NWX6

TreeFam database of animal gene trees

More...TreeFami		TF325119

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.3000, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR025845, Thg1_C_dom
IPR024956, tRNAHis_GuaTrfase_cat
IPR007537, tRNAHis_GuaTrfase_Thg1
IPR038469, tRNAHis_GuaTrfase_Thg1_sf

The PANTHER Classification System

More...PANTHERi		PTHR12729, PTHR12729, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04446, Thg1, 1 hit
PF14413, Thg1C, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF028980, tRNAHis_guanylyltransferase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA6C941B75611C448
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RIQ8E5RIQ8_HUMAN
Probable tRNA(His) guanylyltransfer...
THG1L
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YC78H0YC78_HUMAN
Probable tRNA(His) guanylyltransfer...
THG1L
34Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH01523 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH01852 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti57L → Q in BAD96839 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08390155V → A in SCA28; decreased mitochondrial fusion. 2 Publications1
Natural variantiVAR_031871232L → P4 PublicationsCorresponds to variant dbSNP:rs2270812Ensembl.1
Natural variantiVAR_083902294L → P Found in a patient with a severe multisystemic growth disorder and cerebellar atrophy; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4341.1

NCBI Reference Sequences

More...RefSeqi		NP_001304753.1, NM_001317824.1
NP_001304754.1, NM_001317825.1
NP_001304755.1, NM_001317826.1
NP_060342.2, NM_017872.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000231198; ENSP00000231198; ENSG00000113272

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54974

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54974

UCSC genome browser

More...UCSCi		uc003lxd.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
SMRiQ9NWX6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120311, 38 interactors
DIPiDIP-59479N
IntActiQ9NWX6, 15 interactors
MINTiQ9NWX6
STRINGi9606.ENSP00000231198

PTM databases

iPTMnetiQ9NWX6
PhosphoSitePlusiQ9NWX6

Polymorphism and mutation databases

BioMutaiTHG1L
DMDMi146325755

Proteomic databases

EPDiQ9NWX6
jPOSTiQ9NWX6
MassIVEiQ9NWX6
MaxQBiQ9NWX6
PaxDbiQ9NWX6
PeptideAtlasiQ9NWX6
PRIDEiQ9NWX6
ProteomicsDBi82998

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28457, 89 antibodies

The DNASU plasmid repository

More...DNASUi		54974

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54974
DisGeNETi54974
EuPathDBiHostDB:ENSG00000113272.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		THG1L
HGNCiHGNC:26053, THG1L
HPAiENSG00000113272, Low tissue specificity
MalaCardsiTHG1L
MIMi610246, phenotype
618802, gene
neXtProtiNX_Q9NWX6
OpenTargetsiENSG00000113272
PharmGKBiPA162405691

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2721, Eukaryota
GeneTreeiENSGT00390000011705
HOGENOMiCLU_044271_0_0_1
InParanoidiQ9NWX6
OMAiTAVMQEF
OrthoDBi1152974at2759
PhylomeDBiQ9NWX6
TreeFamiTF325119

Enzyme and pathway databases

BRENDAi2.7.7.79, 2681
PathwayCommonsiQ9NWX6
ReactomeiR-HSA-6782315, tRNA modification in the nucleus and cytosol

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54974, 546 hits in 854 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		THG1L, human
EvolutionaryTraceiQ9NWX6

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		THG1L

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		54974
PharosiQ9NWX6, Tbio

Protein Ontology

More...PROi		PR:Q9NWX6
RNActiQ9NWX6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113272, Expressed in testis and 197 other tissues
ExpressionAtlasiQ9NWX6, baseline and differential
GenevisibleiQ9NWX6, HS

Family and domain databases

Gene3Di3.30.70.3000, 1 hit
InterProiView protein in InterPro
IPR025845, Thg1_C_dom
IPR024956, tRNAHis_GuaTrfase_cat
IPR007537, tRNAHis_GuaTrfase_Thg1
IPR038469, tRNAHis_GuaTrfase_Thg1_sf
PANTHERiPTHR12729, PTHR12729, 1 hit
PfamiView protein in Pfam
PF04446, Thg1, 1 hit
PF14413, Thg1C, 1 hit
PIRSFiPIRSF028980, tRNAHis_guanylyltransferase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTHG1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NWX6
Secondary accession number(s): D3DQJ5
, Q53G12, Q7L5R3, Q9H0S2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: December 2, 2020
This is version 155 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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