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Entry version 135 (16 Oct 2019)
Sequence version 2 (29 May 2007)
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Protein

RNA cytosine C(5)-methyltransferase NSUN2

Gene

NSUN2

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

RNA cytosine C5-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31358969, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C5-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:17071714, PubMed:22995836, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C5-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C5-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969). Cytosine C5-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C5-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C5-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847).By similarity10 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 <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by magnesium ions.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei215S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei242S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei268S-adenosyl-L-methioninePROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei321NucleophilePROSITE-ProRule annotation2 Publications1

<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

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, RNA-binding, Transferase, tRNA-binding
Biological processCell cycle, Cell division, Differentiation, Mitosis, Spermatogenesis, tRNA processing
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS12087-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.1.1.203 2681

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q08J23

<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:
RNA cytosine C(5)-methyltransferase NSUN2Curated (EC:2.1.1.-5 Publications)
Alternative name(s):
Myc-induced SUN domain-containing protein1 Publication
Short name:
Misu1 Publication
NOL1/NOP2/Sun domain family member 21 Publication
Substrate of AIM1/Aurora kinase B1 Publication
mRNA cytosine C(5)-methyltransferase (EC:2.1.1.-3 Publications)
tRNA cytosine C(5)-methyltransferase (EC:2.1.1.-1 Publication, EC:2.1.1.2031 Publication)
tRNA methyltransferase 4 homolog1 Publication
Short name:
hTrm41 Publication
<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:NSUN21 PublicationImported
Synonyms:SAKI1 Publication, TRM41 Publication
<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 5

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:25994 NSUN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610916 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q08J23

<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, Cytoskeleton, Mitochondrion, Nucleus, Secreted

<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

Mental retardation, autosomal recessive 5 (MRT5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
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_068530679G → R in MRT5; impairs proper intracellular localization. 1 PublicationCorresponds to variant dbSNP:rs587776908EnsemblClinVar.1

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>Mutagenesisi139S → A: Induces a constitutive association with NPM1. 1 Publication1
Mutagenesisi139S → E: Mimicks constitutive phosphorylation and abolishes methyltransferase activity. 1 Publication1
Mutagenesisi190K → M: Loss of RNA methyltransferase activity. 2 Publications1
Mutagenesisi271C → A: Abolished mRNA methyltransferase activity; when associated with A-321. 2 Publications1
Mutagenesisi321C → A: Abolished mRNA methyltransferase activity; when associated with A-271. 2 Publications1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
54888

MalaCards human disease database

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MalaCardsi
NSUN2
MIMi611091 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000037474

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
88616 Autosomal recessive non-syndromic intellectual disability
235 Dubowitz syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134953940

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q08J23

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NSUN2

Domain mapping of disease mutations (DMDM)

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DMDMi
148887180

<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_00002892231 – 767RNA cytosine C(5)-methyltransferase NSUN2Add BLAST767

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki46Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei139Phosphoserine; by AURKB1 Publication1
Modified residuei456PhosphoserineCombined sources1
Cross-linki464Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki470Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei473PhosphoserineCombined sources1
Cross-linki511Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki516Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei586N6-acetyllysine; alternateBy similarity1
Modified residuei586N6-malonyllysine; alternate1 Publication1
Cross-linki586Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei593PhosphoserineCombined sources1
Cross-linki640Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki654Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki660Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei718PhosphothreonineBy similarity1
Modified residuei724PhosphoserineBy similarity1
Modified residuei743PhosphoserineCombined sources1
Modified residuei751PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-984

Encyclopedia of Proteome Dynamics

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EPDi
Q08J23

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q08J23

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q08J23

MaxQB - The MaxQuant DataBase

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MaxQBi
Q08J23

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

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PaxDbi
Q08J23

PeptideAtlas

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PeptideAtlasi
Q08J23

PRoteomics IDEntifications database

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PRIDEi
Q08J23

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
32415
58697 [Q08J23-1]
58698 [Q08J23-2]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1859

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q08J23

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

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PhosphoSitePlusi
Q08J23

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q08J23

<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 adult and fetal brain and in lymphoblastoid cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000037474 Expressed in 201 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q08J23 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q08J23 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA037896

<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

Interacts with NPM1 and NCL during interphase; interaction is disrupted following phosphorylation at Ser-139.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120236, 111 interactors

Database of interacting proteins

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DIPi
DIP-52456N

Protein interaction database and analysis system

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IntActi
Q08J23, 50 interactors

Molecular INTeraction database

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MINTi
Q08J23

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264670

<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>Regioni184 – 190S-adenosyl-L-methionine bindingPROSITE-ProRule annotation7

<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 class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2198 Eukaryota
COG0144 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153665

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000205147

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q08J23

KEGG Orthology (KO)

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KOi
K15335

Identification of Orthologs from Complete Genome Data

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OMAi
GIQYRIV

Database of Orthologous Groups

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OrthoDBi
911098at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q08J23

TreeFam database of animal gene trees

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TreeFami
TF300702

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001678 MeTrfase_RsmB/NOP2
IPR023267 RCMT
IPR023270 RCMT_NCL1
IPR029063 SAM-dependent_MTases

Pfam protein domain database

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Pfami
View protein in Pfam
PF01189 Methyltr_RsmB-F, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR02008 RCMTFAMILY
PR02011 RCMTNCL1

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53335 SSF53335, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51686 SAM_MT_RSMB_NOP, 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>. 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>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08J23-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGRRSRGRRL QQQQRPEDAE DGAEGGGKRG EAGWEGGYPE IVKENKLFEH
60 70 80 90 100
YYQELKIVPE GEWGQFMDAL REPLPATLRI TGYKSHAKEI LHCLKNKYFK
110 120 130 140 150
ELEDLEVDGQ KVEVPQPLSW YPEELAWHTN LSRKILRKSP HLEKFHQFLV
160 170 180 190 200
SETESGNISR QEAVSMIPPL LLNVRPHHKI LDMCAAPGSK TTQLIEMLHA
210 220 230 240 250
DMNVPFPEGF VIANDVDNKR CYLLVHQAKR LSSPCIMVVN HDASSIPRLQ
260 270 280 290 300
IDVDGRKEIL FYDRILCDVP CSGDGTMRKN IDVWKKWTTL NSLQLHGLQL
310 320 330 340 350
RIATRGAEQL AEGGRMVYST CSLNPIEDEA VIASLLEKSE GALELADVSN
360 370 380 390 400
ELPGLKWMPG ITQWKVMTKD GQWFTDWDAV PHSRHTQIRP TMFPPKDPEK
410 420 430 440 450
LQAMHLERCL RILPHHQNTG GFFVAVLVKK SSMPWNKRQP KLQGKSAETR
460 470 480 490 500
ESTQLSPADL TEGKPTDPSK LESPSFTGTG DTEIAHATED LENNGSKKDG
510 520 530 540 550
VCGPPPSKKM KLFGFKEDPF VFIPEDDPLF PPIEKFYALD PSFPRMNLLT
560 570 580 590 600
RTTEGKKRQL YMVSKELRNV LLNNSEKMKV INTGIKVWCR NNSGEEFDCA
610 620 630 640 650
FRLAQEGIYT LYPFINSRII TVSMEDVKIL LTQENPFFRK LSSETYSQAK
660 670 680 690 700
DLAKGSIVLK YEPDSANPDA LQCPIVLCGW RGKASIRTFV PKNERLHYLR
710 720 730 740 750
MMGLEVLGEK KKEGVILTNE SAASTGQPDN DVTEGQRAGE PNSPDAEEAN
760
SPDVTAGCDP AGVHPPR
Length:767
Mass (Da):86,471
Last modified:May 29, 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:iFE4B34309978A8D2
GO
Isoform 2 (identifier: Q08J23-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-120: SHAKEILHCLKNKYFKELEDLEVDGQKVEVPQPLSW → R

Note: No experimental confirmation available.
Show »
Length:732
Mass (Da):82,393
Checksum:i3C092217D0A3A22B
GO
Isoform 3 (identifier: Q08J23-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-236: Missing.

Note: No experimental confirmation available.
Show »
Length:531
Mass (Da):59,384
Checksum:i69211E04631124B4
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
A0A140T9Y7A0A140T9Y7_HUMAN
tRNA (cytosine(34)-C(5))-methyltran...
NSUN2
202Annotation 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>
A0A140T9Z1A0A140T9Z1_HUMAN
tRNA (cytosine(34)-C(5))-methyltran...
NSUN2
102Annotation 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 BAA91075 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14762 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 conflicti316M → V in BAA91075 (PubMed:14702039).Curated1
Sequence conflicti327E → G in BAF83833 (PubMed:14702039).Curated1
Sequence conflicti484I → V in BAG51521 (PubMed:14702039).Curated1
Sequence conflicti594G → D in BAB14762 (PubMed:14702039).Curated1
Sequence conflicti605Q → R in BAF34150 (PubMed:17215513).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032604627V → I. Corresponds to variant dbSNP:rs2303708EnsemblClinVar.1
Natural variantiVAR_068530679G → R in MRT5; impairs proper intracellular localization. 1 PublicationCorresponds to variant dbSNP:rs587776908EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0535981 – 236Missing in isoform 3. 1 PublicationAdd BLAST236
Alternative sequenceiVSP_04262185 – 120SHAKE…QPLSW → R in isoform 2. 1 PublicationAdd BLAST36

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
AB255451 mRNA Translation: BAF34150.1
AK000310 mRNA Translation: BAA91075.1 Different initiation.
AK023994 mRNA Translation: BAB14762.1 Different initiation.
AK055456 mRNA Translation: BAG51521.1
AK291144 mRNA Translation: BAF83833.1
AK298980 mRNA Translation: BAG61074.1
AC010366 Genomic DNA No translation available.
AC027334 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08105.1
CH471102 Genomic DNA Translation: EAX08106.1
BC001041 mRNA Translation: AAH01041.3
BC137083 mRNA Translation: AAI37084.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3869.1 [Q08J23-1]
CCDS54832.1 [Q08J23-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001180384.1, NM_001193455.1 [Q08J23-2]
NP_060225.4, NM_017755.5 [Q08J23-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264670; ENSP00000264670; ENSG00000037474 [Q08J23-1]
ENST00000506139; ENSP00000420957; ENSG00000037474 [Q08J23-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54888

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54888

UCSC genome browser

More...
UCSCi
uc003jdu.4 human [Q08J23-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AB255451 mRNA Translation: BAF34150.1
AK000310 mRNA Translation: BAA91075.1 Different initiation.
AK023994 mRNA Translation: BAB14762.1 Different initiation.
AK055456 mRNA Translation: BAG51521.1
AK291144 mRNA Translation: BAF83833.1
AK298980 mRNA Translation: BAG61074.1
AC010366 Genomic DNA No translation available.
AC027334 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08105.1
CH471102 Genomic DNA Translation: EAX08106.1
BC001041 mRNA Translation: AAH01041.3
BC137083 mRNA Translation: AAI37084.1
CCDSiCCDS3869.1 [Q08J23-1]
CCDS54832.1 [Q08J23-2]
RefSeqiNP_001180384.1, NM_001193455.1 [Q08J23-2]
NP_060225.4, NM_017755.5 [Q08J23-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120236, 111 interactors
DIPiDIP-52456N
IntActiQ08J23, 50 interactors
MINTiQ08J23
STRINGi9606.ENSP00000264670

PTM databases

GlyConnecti1859
iPTMnetiQ08J23
PhosphoSitePlusiQ08J23
SwissPalmiQ08J23

Polymorphism and mutation databases

BioMutaiNSUN2
DMDMi148887180

Proteomic databases

CPTACiCPTAC-984
EPDiQ08J23
jPOSTiQ08J23
MassIVEiQ08J23
MaxQBiQ08J23
PaxDbiQ08J23
PeptideAtlasiQ08J23
PRIDEiQ08J23
ProteomicsDBi32415
58697 [Q08J23-1]
58698 [Q08J23-2]

Genome annotation databases

EnsembliENST00000264670; ENSP00000264670; ENSG00000037474 [Q08J23-1]
ENST00000506139; ENSP00000420957; ENSG00000037474 [Q08J23-2]
GeneIDi54888
KEGGihsa:54888
UCSCiuc003jdu.4 human [Q08J23-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54888
DisGeNETi54888

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NSUN2
HGNCiHGNC:25994 NSUN2
HPAiHPA037896
MalaCardsiNSUN2
MIMi610916 gene
611091 phenotype
neXtProtiNX_Q08J23
OpenTargetsiENSG00000037474
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
235 Dubowitz syndrome
PharmGKBiPA134953940

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2198 Eukaryota
COG0144 LUCA
GeneTreeiENSGT00940000153665
HOGENOMiHOG000205147
InParanoidiQ08J23
KOiK15335
OMAiGIQYRIV
OrthoDBi911098at2759
PhylomeDBiQ08J23
TreeFamiTF300702

Enzyme and pathway databases

BioCyciMetaCyc:HS12087-MONOMER
BRENDAi2.1.1.203 2681
ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol
SIGNORiQ08J23

Miscellaneous databases

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

More...
ChiTaRSi
NSUN2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NSUN2

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

More...
GenomeRNAii
54888
PharosiQ08J23

Protein Ontology

More...
PROi
PR:Q08J23

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000037474 Expressed in 201 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ08J23 baseline and differential
GenevisibleiQ08J23 HS

Family and domain databases

InterProiView protein in InterPro
IPR001678 MeTrfase_RsmB/NOP2
IPR023267 RCMT
IPR023270 RCMT_NCL1
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF01189 Methyltr_RsmB-F, 1 hit
PRINTSiPR02008 RCMTFAMILY
PR02011 RCMTNCL1
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51686 SAM_MT_RSMB_NOP, 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 nameiNSUN2_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: Q08J23
Secondary accession number(s): A8K529
, B2RNR4, B3KP09, B4DQW2, G3V1R4, Q9BVN4, Q9H858, Q9NXD9
<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: May 29, 2007
Last sequence update: May 29, 2007
Last modified: October 16, 2019
This is version 135 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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