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Protein

Trimethylguanosine synthase

Gene

TGS1

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

Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m7G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation.4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=30 µM for m7GDP1 Publication
  2. KM=5 µM for S-adenosyl-L-methionine1 Publication

    pH dependencei

    Optimum pH is 8.5-9.5.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei719S-adenosyl-L-methionineBy similarity1
    Binding sitei7667-methylguanosine1 Publication1

    <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

    • RNA methyltransferase activity Source: Reactome
    • RNA trimethylguanosine synthase activity Source: BHF-UCL

    GO - Biological processi

    <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 functionMethyltransferase, Transferase
    Biological processTranscription, Transcription regulation
    LigandS-adenosyl-L-methionine

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1368082 RORA activates gene expression
    R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
    R-HSA-191859 snRNP Assembly
    R-HSA-1989781 PPARA activates gene expression
    R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
    R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
    R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
    R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    R-HSA-400253 Circadian Clock

    <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_and_taxonomy_section">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:
    Trimethylguanosine synthase (EC:2.1.1.-)
    Alternative name(s):
    CLL-associated antigen KW-2
    Cap-specific guanine-N2 methyltransferase
    Hepatocellular carcinoma-associated antigen 137
    Nuclear receptor coactivator 6-interacting protein
    PRIP-interacting protein with methyltransferase motif
    Short name:
    PIMT
    Short name:
    PIPMT
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TGS1
    Synonyms:HCA137, NCOA6IP, PIMT
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 8

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000137574.10

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:17843 TGS1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    606461 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q96RS0

    <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; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    <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

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi655F → A: Loss of catalytic activity. 1 Publication1
    Mutagenesisi673T → A: Decreases catalytic activity to 13 percent of wild type. 1 Publication1
    Mutagenesisi696D → A: Loss of catalytic activity. 1 Publication1
    Mutagenesisi704N → A: Decreases catalytic activity to 5 percent of wild type. 1 Publication1
    Mutagenesisi719D → A: Loss of catalytic activity. 1 Publication1
    Mutagenesisi731N → A: Decreases catalytic activity to 4 percent of wild type. 1 Publication1
    Mutagenesisi763S → A: Decreases catalytic activity to 26 percent of wild type. 2 Publications1
    Mutagenesisi766W → A: Loss of catalytic activity. 2 Publications1
    Mutagenesisi807R → A: Decreases catalytic activity to 6 percent of wild type. 1 Publication1
    Mutagenesisi808N → A: Decreases catalytic activity to 11 percent of wild type. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    96764

    Open Targets

    More...
    OpenTargetsi
    ENSG00000137574

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA162405660

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    TGS1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    317373500

    <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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002044681 – 853Trimethylguanosine synthaseAdd BLAST853

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei55PhosphoserineCombined sources1
    Modified residuei60PhosphothreonineCombined sources1
    Modified residuei85PhosphoserineCombined sources1
    Modified residuei89PhosphoserineCombined sources1
    Modified residuei96PhosphoserineCombined sources1
    Modified residuei141PhosphoserineCombined sources1
    Modified residuei146PhosphotyrosineCombined sources1
    Modified residuei154PhosphoserineCombined sources1
    Modified residuei189PhosphoserineCombined sources1
    Modified residuei412PhosphoserineCombined sources1
    Modified residuei438PhosphoserineCombined sources1
    Modified residuei578PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q96RS0

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q96RS0

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

    More...
    PaxDbi
    Q96RS0

    PeptideAtlas

    More...
    PeptideAtlasi
    Q96RS0

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q96RS0

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    78017

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q96RS0

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

    More...
    PhosphoSitePlusi
    Q96RS0

    <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

    Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000137574 Expressed in 214 organ(s), highest expression level in amniotic fluid

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_TGS1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q96RS0 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q96RS0 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA025024
    HPA029824

    <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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN.5 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    NOP58Q9Y2X32EBI-949244,EBI-395469

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    125179, 42 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-49970N

    Protein interaction database and analysis system

    More...
    IntActi
    Q96RS0, 35 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q96RS0

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000260129

    <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

    1853
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q96RS0

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

    More...
    SMRi
    Q96RS0

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q96RS0

    <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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni631 – 846Sufficient for catalytic activityAdd BLAST216

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi611 – 624Lys-richAdd BLAST14

    <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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2730 Eukaryota
    ENOG410XRUD LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000018056

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000154561

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG059797

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q96RS0

    KEGG Orthology (KO)

    More...
    KOi
    K14292

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    MNTRNKV

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0DYO

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q96RS0

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313065

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR019012 RNA_cap_Gua-N2-MeTrfase
    IPR029063 SAM-dependent_MTases

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF09445 Methyltransf_15, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF53335 SSF53335, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 1 potential isoform that is computationally mapped.Show allAlign All

    Q96RS0-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MCCEKWSRVA EMFLFIEERE DCKILCLCSR AFVEDRKLYN LGLKGYYIRD
    60 70 80 90 100
    SGNNSGDQAT EEEEGGYSCG TAESHDSKGI GLDESELDSE AELMRSMGLP
    110 120 130 140 150
    LQFGRITAHK DFEVSMNTRN KVKIKKKKHQ KKYLDEIVQE SWRKEYEEDD
    160 170 180 190 200
    ILASDDPSSI EQYENTRTYE LQSKKDTETE NPPVENTLSP KLEITEKWEK
    210 220 230 240 250
    YWNEYGGGLL WQSWQEKHPG QALSSEPWNF PDTKEEWEQH YSQLYWYYLE
    260 270 280 290 300
    QFQYWEAQGW TFDASQSCDT DTYTSKTEAD DKNDEKCMKV DLVSFPSSPI
    310 320 330 340 350
    MVDNDSSGTS DKDHSEILDG ISNIKLNSEE VTQSQLDSCT SHDGHQQLSE
    360 370 380 390 400
    VSSKRECPAS GQSEPRNGGT NEESNSSGNT NTDPPAEDSQ KSSGANTSKD
    410 420 430 440 450
    RPHASGTDGD ESEEDPPEHK PSKLKRSHEL DIDENPASDF DDSGSLLGFK
    460 470 480 490 500
    YGSGQKYGGI PNFSHRQVRY LEKNVKLKSK YLDMRRQIKM KNKHIFFTKE
    510 520 530 540 550
    SEKPFFKKSK ILSKVEKFLT WVNKPMDEEA SQESSSHDNV HDASTSSDSE
    560 570 580 590 600
    EQDMSVKKGD DLLETNNPEP EKCQSVSSAG ELETENYERD SLLATVPDEQ
    610 620 630 640 650
    DCVTQEVPDS RQAETEAEVK KKKNKKKNKK VNGLPPEIAA VPELAKYWAQ
    660 670 680 690 700
    RYRLFSRFDD GIKLDREGWF SVTPEKIAEH IAGRVSQSFK CDVVVDAFCG
    710 720 730 740 750
    VGGNTIQFAL TGMRVIAIDI DPVKIALARN NAEVYGIADK IEFICGDFLL
    760 770 780 790 800
    LASFLKADVV FLSPPWGGPD YATAETFDIR TMMSPDGFEI FRLSKKITNN
    810 820 830 840 850
    IVYFLPRNAD IDQVASLAGP GGQVEIEQNF LNNKLKTITA YFGDLIRRPA

    SET
    Length:853
    Mass (Da):96,620
    Last modified:January 11, 2011 - v3
    <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:iFF670AFBE0979443
    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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E5RJW7E5RJW7_HUMAN
    Trimethylguanosine synthase
    TGS1
    53Annotation 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 AAH11999 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
    The sequence BAB15516 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti566Missing in AAK27730 (PubMed:11517327).Curated1
    Sequence conflicti624N → T in AAK83025 (PubMed:12097419).Curated1
    Sequence conflicti628N → T in AAK83025 (PubMed:12097419).Curated1
    Sequence conflicti681I → F in AAK27730 (PubMed:11517327).Curated1
    Sequence conflicti771Y → H in AAL99922 (PubMed:12200376).Curated1

    Natural variant

    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_02473416I → T3 PublicationsCorresponds to variant dbSNP:rs1818Ensembl.1
    Natural variantiVAR_024735160I → V. Corresponds to variant dbSNP:rs3213971Ensembl.1
    Natural variantiVAR_056241299P → S. Corresponds to variant dbSNP:rs11986329Ensembl.1
    Natural variantiVAR_024736511I → T. Corresponds to variant dbSNP:rs10100659Ensembl.1
    Natural variantiVAR_024737576V → I. Corresponds to variant dbSNP:rs16922259Ensembl.1
    Natural variantiVAR_056242595T → A. Corresponds to variant dbSNP:rs10109493Ensembl.1
    Natural variantiVAR_024738754F → C. Corresponds to variant dbSNP:rs7823773Ensembl.1

    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
    AY028423 mRNA Translation: AAK27730.1
    AF432215 mRNA Translation: AAL99922.1
    AF286340 mRNA Translation: AAK83025.1
    AC100817 Genomic DNA No translation available.
    AY534911 mRNA Translation: AAT02709.1
    BC011999 mRNA Translation: AAH11999.1 Different initiation.
    AK026648 mRNA Translation: BAB15516.1 Different initiation.

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS34894.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001304831.1, NM_001317902.1
    NP_079107.6, NM_024831.7

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.335068

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000260129; ENSP00000260129; ENSG00000137574

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    96764

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:96764

    UCSC genome browser

    More...
    UCSCi
    uc003xsj.5 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
    AY028423 mRNA Translation: AAK27730.1
    AF432215 mRNA Translation: AAL99922.1
    AF286340 mRNA Translation: AAK83025.1
    AC100817 Genomic DNA No translation available.
    AY534911 mRNA Translation: AAT02709.1
    BC011999 mRNA Translation: AAH11999.1 Different initiation.
    AK026648 mRNA Translation: BAB15516.1 Different initiation.
    CCDSiCCDS34894.1
    RefSeqiNP_001304831.1, NM_001317902.1
    NP_079107.6, NM_024831.7
    UniGeneiHs.335068

    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
    3EGIX-ray2.21A/B/C/D653-853[»]
    3GDHX-ray2.00A/B/C618-853[»]
    ProteinModelPortaliQ96RS0
    SMRiQ96RS0
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi125179, 42 interactors
    DIPiDIP-49970N
    IntActiQ96RS0, 35 interactors
    MINTiQ96RS0
    STRINGi9606.ENSP00000260129

    PTM databases

    iPTMnetiQ96RS0
    PhosphoSitePlusiQ96RS0

    Polymorphism and mutation databases

    BioMutaiTGS1
    DMDMi317373500

    Proteomic databases

    EPDiQ96RS0
    MaxQBiQ96RS0
    PaxDbiQ96RS0
    PeptideAtlasiQ96RS0
    PRIDEiQ96RS0
    ProteomicsDBi78017

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    96764
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000260129; ENSP00000260129; ENSG00000137574
    GeneIDi96764
    KEGGihsa:96764
    UCSCiuc003xsj.5 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    96764
    DisGeNETi96764
    EuPathDBiHostDB:ENSG00000137574.10

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    TGS1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0007515
    HGNCiHGNC:17843 TGS1
    HPAiHPA025024
    HPA029824
    MIMi606461 gene
    neXtProtiNX_Q96RS0
    OpenTargetsiENSG00000137574
    PharmGKBiPA162405660

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2730 Eukaryota
    ENOG410XRUD LUCA
    GeneTreeiENSGT00390000018056
    HOGENOMiHOG000154561
    HOVERGENiHBG059797
    InParanoidiQ96RS0
    KOiK14292
    OMAiMNTRNKV
    OrthoDBiEOG091G0DYO
    PhylomeDBiQ96RS0
    TreeFamiTF313065

    Enzyme and pathway databases

    ReactomeiR-HSA-1368082 RORA activates gene expression
    R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
    R-HSA-191859 snRNP Assembly
    R-HSA-1989781 PPARA activates gene expression
    R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
    R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
    R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
    R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    R-HSA-400253 Circadian Clock

    Miscellaneous databases

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

    More...
    ChiTaRSi
    TGS1 human
    EvolutionaryTraceiQ96RS0

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    TGS1

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

    More...
    GenomeRNAii
    96764

    Protein Ontology

    More...
    PROi
    PR:Q96RS0

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000137574 Expressed in 214 organ(s), highest expression level in amniotic fluid
    CleanExiHS_TGS1
    ExpressionAtlasiQ96RS0 baseline and differential
    GenevisibleiQ96RS0 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR019012 RNA_cap_Gua-N2-MeTrfase
    IPR029063 SAM-dependent_MTases
    PfamiView protein in Pfam
    PF09445 Methyltransf_15, 1 hit
    SUPFAMiSSF53335 SSF53335, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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 nameiTGS1_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: Q96RS0
    Secondary accession number(s): A6NJQ5
    , Q5GH23, Q8TDG9, Q96QU3, Q9H5V3
    <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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: January 11, 2011
    Last modified: December 5, 2018
    This is version 148 of the entry and version 3 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, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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