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Entry version 135 (12 Aug 2020)
Sequence version 2 (29 May 2007)
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Protein

5-methylcytosine rRNA methyltransferase NSUN4

Gene

NSUN4

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

Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei237S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Binding sitei255S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei310NucleophilePROSITE-ProRule annotation1 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

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, rRNA-binding, Transferase
Biological processRibosome biogenesis, rRNA processing
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96CB9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6793080, rRNA modification in the mitochondrion

<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:
5-methylcytosine rRNA methyltransferase NSUN4 (EC:2.1.1.-)
Alternative name(s):
NOL1/NOP2/Sun domain family member 4
<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:NSUN4
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000117481.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:31802, NSUN4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615394, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96CB9

<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

Mitochondrion

<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%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>Mutagenesisi65V → R: Disrupts complex with MTERFD2; when associated with A-136, R-139 and A-141. 1 Publication1
Mutagenesisi136R → A: Disrupts complex with MTERFD2; when associated with R-65, R-139 and A-141. 1 Publication1
Mutagenesisi139I → R: Disrupts complex with MTERFD2; when associated with R-65, A-136, and A-141. 1 Publication1
Mutagenesisi141R → A: Disrupts complex with MTERFD2; when associated with R-65, A-136 and R-139. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
387338

Open Targets

More...
OpenTargetsi
ENSG00000117481

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134953046

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96CB9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NSUN4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
152125805

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 25Mitochondrion2 PublicationsAdd BLAST25
<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_000028923426 – 3845-methylcytosine rRNA methyltransferase NSUN4Add BLAST359

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 residuei206PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96CB9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96CB9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96CB9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96CB9

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

More...
PaxDbi
Q96CB9

PeptideAtlas

More...
PeptideAtlasi
Q96CB9

PRoteomics IDEntifications database

More...
PRIDEi
Q96CB9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4205
76175 [Q96CB9-1]
76176 [Q96CB9-2]
76177 [Q96CB9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96CB9

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

More...
PhosphoSitePlusi
Q96CB9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000117481, Expressed in testis and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96CB9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96CB9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000117481, Group enriched (blood, testis)

<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 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
132288, 33 interactors

Database of interacting proteins

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DIPi
DIP-58104N

Protein interaction database and analysis system

More...
IntActi
Q96CB9, 30 interactors

Molecular INTeraction database

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MINTi
Q96CB9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000419740

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96CB9, 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

1384
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

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SMRi
Q96CB9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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>Regioni181 – 187S-adenosyl-L-methionine binding7

<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.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2198, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153665

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_041061_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96CB9

KEGG Orthology (KO)

More...
KOi
K21970

Database of Orthologous Groups

More...
OrthoDBi
1239772at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96CB9

TreeFam database of animal gene trees

More...
TreeFami
TF321304

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001678, MeTrfase_RsmB/NOP2
IPR023267, RCMT
IPR029063, SAM-dependent_MTases

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02008, RCMTFAMILY

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335, SSF53335, 1 hit

PROSITE; a protein domain and family database

More...
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%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>Sequences (4+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96CB9-1) [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
MAALTLRGVR ELLKRVDLAT VPRRHRYKKK WAATEPKFPA VRLALQNFDM
60 70 80 90 100
TYSVQFGDLW PSIRVSLLSE QKYGALVNNF AAWDHVSAKL EQLSAKDFVN
110 120 130 140 150
EAISHWELQS EGGQSAAPSP ASWACSPNLR CFTFDRGDIS RFPPARPGSL
160 170 180 190 200
GVMEYYLMDA ASLLPVLALG LQPGDIVLDL CAAPGGKTLA LLQTGCCRNL
210 220 230 240 250
AANDLSPSRI ARLQKILHSY VPEEIRDGNQ VRVTSWDGRK WGELEGDTYD
260 270 280 290 300
RVLVDVPCTT DRHSLHEEEN NIFKRSRKKE RQILPVLQVQ LLAAGLLATK
310 320 330 340 350
PGGHVVYSTC SLSHLQNEYV VQGAIELLAN QYSIQVQVED LTHFRRVFMD
360 370 380
TFCFFSSCQV GELVIPNLMA NFGPMYFCKM RRLT
Length:384
Mass (Da):43,089
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:i4D83B6D55D65C27F
GO
Isoform 2 (identifier: Q96CB9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-384: Missing.

Show »
Length:146
Mass (Da):16,507
Checksum:iE49A839AA5937FB5
GO
Isoform 3 (identifier: Q96CB9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.
     199-219: NLAANDLSPSRIARLQKILHS → MLPPCCLFWPSACSLGTSCLT

Show »
Length:186
Mass (Da):21,240
Checksum:i4186007A46B086CD
GO
Isoform 4 (identifier: Q96CB9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Show »
Length:335
Mass (Da):37,374
Checksum:i85AACD29E9DDB7D7
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6ZRQ1Q6ZRQ1_HUMAN
5-methylcytosine rRNA methyltransfe...
NSUN4
652Annotation 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>
A0A087WT36A0A087WT36_HUMAN
5-methylcytosine rRNA methyltransfe...
NSUN4
136Annotation 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>
M0R1K5M0R1K5_HUMAN
5-methylcytosine rRNA methyltransfe...
NSUN4
151Annotation 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>
A0A087WUV3A0A087WUV3_HUMAN
5-methylcytosine rRNA methyltransfe...
NSUN4
106Annotation 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>
A0A087X0V6A0A087X0V6_HUMAN
5-methylcytosine rRNA methyltransfe...
NSUN4
54Annotation 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>

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 conflicti282Q → R in BAG51912 (PubMed:14702039).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_03260651T → A2 PublicationsCorresponds to variant dbSNP:rs3737744Ensembl.1
Natural variantiVAR_032607128N → K. Corresponds to variant dbSNP:rs17102152Ensembl.1
Natural variantiVAR_032608325I → T. Corresponds to variant dbSNP:rs13374337Ensembl.1
Natural variantiVAR_032609365I → V1 PublicationCorresponds to variant dbSNP:rs9865Ensembl.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_0259711 – 198Missing in isoform 3. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_0450531 – 49Missing in isoform 4. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_025972147 – 384Missing in isoform 2. 1 PublicationAdd BLAST238
Alternative sequenceiVSP_025973199 – 219NLAAN…KILHS → MLPPCCLFWPSACSLGTSCL T in isoform 3. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK021577 mRNA Translation: BAB13847.1
AK057420 mRNA Translation: BAG51912.1
AK291741 mRNA Translation: BAF84430.1
AK295003 mRNA Translation: BAG58065.1
AL122001 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06917.1
BC014441 mRNA Translation: AAH14441.1
BC016907 mRNA Translation: AAH16907.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS534.1 [Q96CB9-1]
CCDS57996.1 [Q96CB9-4]

NCBI Reference Sequences

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RefSeqi
NP_001243056.1, NM_001256127.1 [Q96CB9-4]
NP_001243057.1, NM_001256128.1 [Q96CB9-4]
NP_950245.2, NM_199044.3 [Q96CB9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000474844; ENSP00000419740; ENSG00000117481 [Q96CB9-1]
ENST00000537428; ENSP00000437758; ENSG00000117481 [Q96CB9-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
387338

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:387338

UCSC genome browser

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UCSCi
uc001cpr.3, human [Q96CB9-1]

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
AK021577 mRNA Translation: BAB13847.1
AK057420 mRNA Translation: BAG51912.1
AK291741 mRNA Translation: BAF84430.1
AK295003 mRNA Translation: BAG58065.1
AL122001 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06917.1
BC014441 mRNA Translation: AAH14441.1
BC016907 mRNA Translation: AAH16907.1
CCDSiCCDS534.1 [Q96CB9-1]
CCDS57996.1 [Q96CB9-4]
RefSeqiNP_001243056.1, NM_001256127.1 [Q96CB9-4]
NP_001243057.1, NM_001256128.1 [Q96CB9-4]
NP_950245.2, NM_199044.3 [Q96CB9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4FP9X-ray2.90A/C/D/F26-384[»]
4FZVX-ray2.00A26-384[»]
SMRiQ96CB9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi132288, 33 interactors
DIPiDIP-58104N
IntActiQ96CB9, 30 interactors
MINTiQ96CB9
STRINGi9606.ENSP00000419740

PTM databases

iPTMnetiQ96CB9
PhosphoSitePlusiQ96CB9

Polymorphism and mutation databases

BioMutaiNSUN4
DMDMi152125805

Proteomic databases

EPDiQ96CB9
jPOSTiQ96CB9
MassIVEiQ96CB9
MaxQBiQ96CB9
PaxDbiQ96CB9
PeptideAtlasiQ96CB9
PRIDEiQ96CB9
ProteomicsDBi4205
76175 [Q96CB9-1]
76176 [Q96CB9-2]
76177 [Q96CB9-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32791, 64 antibodies

Genome annotation databases

EnsembliENST00000474844; ENSP00000419740; ENSG00000117481 [Q96CB9-1]
ENST00000537428; ENSP00000437758; ENSG00000117481 [Q96CB9-4]
GeneIDi387338
KEGGihsa:387338
UCSCiuc001cpr.3, human [Q96CB9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
387338
DisGeNETi387338
EuPathDBiHostDB:ENSG00000117481.10

GeneCards: human genes, protein and diseases

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GeneCardsi
NSUN4
HGNCiHGNC:31802, NSUN4
HPAiENSG00000117481, Group enriched (blood, testis)
MIMi615394, gene
neXtProtiNX_Q96CB9
OpenTargetsiENSG00000117481
PharmGKBiPA134953046

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2198, Eukaryota
GeneTreeiENSGT00940000153665
HOGENOMiCLU_041061_3_1_1
InParanoidiQ96CB9
KOiK21970
OrthoDBi1239772at2759
PhylomeDBiQ96CB9
TreeFamiTF321304

Enzyme and pathway databases

PathwayCommonsiQ96CB9
ReactomeiR-HSA-6793080, rRNA modification in the mitochondrion

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
387338, 240 hits in 877 CRISPR screens

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

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GenomeRNAii
387338
PharosiQ96CB9, Tbio

Protein Ontology

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PROi
PR:Q96CB9
RNActiQ96CB9, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117481, Expressed in testis and 216 other tissues
ExpressionAtlasiQ96CB9, baseline and differential
GenevisibleiQ96CB9, HS

Family and domain databases

InterProiView protein in InterPro
IPR001678, MeTrfase_RsmB/NOP2
IPR023267, RCMT
IPR029063, SAM-dependent_MTases
PfamiView protein in Pfam
PF01189, Methyltr_RsmB-F, 1 hit
PRINTSiPR02008, RCMTFAMILY
SUPFAMiSSF53335, SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51686, SAM_MT_RSMB_NOP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiNSUN4_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: Q96CB9
Secondary accession number(s): A8K6S6
, B3KQ50, B4DHA4, Q5TDF7, Q96AN8, Q9HAJ8
<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 29, 2007
Last sequence update: May 29, 2007
Last modified: August 12, 2020
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

3D-structure, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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