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Entry version 159 (16 Oct 2019)
Sequence version 5 (11 Jan 2011)
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Protein

Selenoprotein N

Gene

SELENON

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

Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H2O2, which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).3 Publications
Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).1 Publication

<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 functionOxidoreductase

<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:
Selenoprotein N1 Publication
Short name:
SelN1 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:SELENON1 PublicationImported
Synonyms:SELN1 Publication, SEPN11 PublicationImported
<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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15999 SELENON

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606210 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZV5

<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

Endoplasmic reticulum, Membrane

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

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

Rigid spine muscular dystrophy 1 (RSMD1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.
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_019635273G → E in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908182EnsemblClinVar.1
Natural variantiVAR_019636293H → R in RSMD1. 2 PublicationsCorresponds to variant dbSNP:rs776738184EnsemblClinVar.1
Natural variantiVAR_019637315G → S in RSMD1 and CFTD. 4 PublicationsCorresponds to variant dbSNP:rs121908188EnsemblClinVar.1
Natural variantiVAR_019638340N → I in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs749911126Ensembl.1
Natural variantiVAR_019639453W → S in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908186EnsemblClinVar.1
Natural variantiVAR_019640462U → G in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908187Ensembl.1
Natural variantiVAR_058462463G → V in RSMD1. 1 Publication1
Natural variantiVAR_019641466R → Q in RSMD1; decreased function in the regulation of ryanodine receptor activity. 4 PublicationsCorresponds to variant dbSNP:rs121908185EnsemblClinVar.1
Natural variantiVAR_058463469R → Q in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs779162837EnsemblClinVar.1
Natural variantiVAR_058464469R → W in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs756927098Ensembl.1
Myopathy, congenital, with fiber-type disproportion (CFTD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019637315G → S in RSMD1 and CFTD. 4 PublicationsCorresponds to variant dbSNP:rs121908188EnsemblClinVar.1

Keywords - Diseasei

Desmin-related myopathy, Disease mutation, Myofibrillar myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
57190

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SELENON

MalaCards human disease database

More...
MalaCardsi
SELENON
MIMi255310 phenotype
602771 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162430

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

More...
Orphaneti
324604 Classic multiminicore myopathy
2020 Congenital fiber-type disproportion myopathy
84132 Desmin-related myopathy with Mallory body-like inclusions
97244 Rigid spine syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38079

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZV5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SELENON

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373588

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 43Sequence analysisAdd BLAST43
<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_000002231144 – 590Selenoprotein NAdd BLAST547

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 specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi126N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi483N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi505N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi531N-linked (GlcNAc...) asparagineSequence analysis1

<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

Isoform 2: N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZV5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZV5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZV5

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

More...
PaxDbi
Q9NZV5

PeptideAtlas

More...
PeptideAtlasi
Q9NZV5

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZV5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83517 [Q9NZV5-1]
83518 [Q9NZV5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NZV5

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

More...
PhosphoSitePlusi
Q9NZV5

<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

Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162430 Expressed in 194 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NZV5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NZV5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058076

<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

Isoform 2:

Interacts with RYR1, RYR2 and RYR3 (PubMed:18713863).

1 Publication

<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
P163332EBI-1751965,EBI-389883

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121439, 29 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZV5, 18 interactors

Molecular INTeraction database

More...
MINTi
Q9NZV5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355141

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini67 – 102EF-handPROSITE-ProRule annotationAdd BLAST36

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 biasi17 – 59Ala-richAdd BLAST43

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Isoform 2: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.1 Publication

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGIC Eukaryota
ENOG410XS9C LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005972

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007489

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZV5

KEGG Orthology (KO)

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KOi
K19874

Identification of Orthologs from Complete Genome Data

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OMAi
LDTDQDM

Database of Orthologous Groups

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OrthoDBi
817333at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZV5

TreeFam database of animal gene trees

More...
TreeFami
TF329622

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002048 EF_hand_dom

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50222 EF_HAND_2, 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 (2+)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.

<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 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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZV5-1) [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
MGRARPGQRG PPSPGPAAQP PAPPRRRARS LALLGALLAA AAAAAVRVCA
60 70 80 90 100
RHAEAQAAAR QELALKTLGT DGLFLFSSLD TDGDMYISPE EFKPIAEKLT
110 120 130 140 150
GSCSVTQTGV QWCSHSSLQP QLPWLNUSSC LSLLRSTPAA SCEEEELPPD
160 170 180 190 200
PSEETLTIEA RFQPLLPETM TKSKDGFLGV SRLALSGLRN WTAAASPSAV
210 220 230 240 250
FATRHFQPFL PPPGQELGEP WWIIPSELSM FTGYLSNNRF YPPPPKGKEV
260 270 280 290 300
IIHRLLSMFH PRPFVKTRFA PQGAVACLTA ISDFYYTVMF RIHAEFQLSE
310 320 330 340 350
PPDFPFWFSP AQFTGHIILS KDATHVRDFR LFVPNHRSLN VDMEWLYGAS
360 370 380 390 400
ESSNMEVDIG YIPQMELEAT GPSVPSVILD EDGSMIDSHL PSGEPLQFVF
410 420 430 440 450
EEIKWQQELS WEEAARRLEV AMYPFKKVSY LPFTEAFDRA KAENKLVHSI
460 470 480 490 500
LLWGALDDQS CUGSGRTLRE TVLESSPILT LLNESFISTW SLVKELEELQ
510 520 530 540 550
NNQENSSHQK LAGLHLEKYS FPVEMMICLP NGTVVHHINA NYFLDITSVK
560 570 580 590
PEEIESNLFS FSSTFEDPST ATYMQFLKEG LRRGLPLLQP
Note: The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.
Length:590
Mass (Da):65,813
Last modified:January 11, 2011 - v5
<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:iD7D4D6331652C359
GO
Isoform 2 (identifier: Q9NZV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     102-135: Missing.

Note: The UGA codon present in position 428 is either a selenocysteine or a real stop codon.
Show »
Length:556
Mass (Da):62,034
Checksum:i0DAF9C344FA543AC
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
H9KV50H9KV50_HUMAN
Selenoprotein N
SELENON
556Annotation 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>
A0A0D9SGI9A0A0D9SGI9_HUMAN
Selenoprotein N
SELENON
66Annotation 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 AAH15638 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH42154 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 conflicti247G → S in AAF21430 (PubMed:10608886).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038845137T → A. Corresponds to variant dbSNP:rs35019869EnsemblClinVar.1
Natural variantiVAR_038846142C → Y1 PublicationCorresponds to variant dbSNP:rs7349185EnsemblClinVar.1
Natural variantiVAR_019635273G → E in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908182EnsemblClinVar.1
Natural variantiVAR_019636293H → R in RSMD1. 2 PublicationsCorresponds to variant dbSNP:rs776738184EnsemblClinVar.1
Natural variantiVAR_019637315G → S in RSMD1 and CFTD. 4 PublicationsCorresponds to variant dbSNP:rs121908188EnsemblClinVar.1
Natural variantiVAR_019638340N → I in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs749911126Ensembl.1
Natural variantiVAR_019639453W → S in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908186EnsemblClinVar.1
Natural variantiVAR_019640462U → G in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs121908187Ensembl.1
Natural variantiVAR_058462463G → V in RSMD1. 1 Publication1
Natural variantiVAR_019641466R → Q in RSMD1; decreased function in the regulation of ryanodine receptor activity. 4 PublicationsCorresponds to variant dbSNP:rs121908185EnsemblClinVar.1
Natural variantiVAR_058463469R → Q in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs779162837EnsemblClinVar.1
Natural variantiVAR_058464469R → W in RSMD1. 1 PublicationCorresponds to variant dbSNP:rs756927098Ensembl.1
Natural variantiVAR_038847502N → K3 PublicationsCorresponds to variant dbSNP:rs2294228EnsemblClinVar.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_011372102 – 135Missing in isoform 2. 1 PublicationAdd BLAST34

Non-standard residue

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the occurrence of non-standard amino acids selenocysteine (Sec) or pyrrolysine (Pyl) in the protein sequence.<p><a href='/help/non_std' target='_top'>More...</a></p>Non-standard residuei127Selenocysteine1
Non-standard residuei462Selenocysteine1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ306399 mRNA Translation: CAC83791.1
AJ306398 Genomic DNA Translation: CAC83790.1
AL020996 Genomic DNA No translation available.
AF166125 mRNA Translation: AAF21430.1
BC015638 mRNA Translation: AAH15638.1 Different initiation.
BC042154 mRNA Translation: AAH42154.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41282.1 [Q9NZV5-1]
CCDS41283.1 [Q9NZV5-2]

NCBI Reference Sequences

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RefSeqi
NP_065184.2, NM_020451.2 [Q9NZV5-1]
NP_996809.1, NM_206926.1 [Q9NZV5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361547; ENSP00000355141; ENSG00000162430 [Q9NZV5-1]
ENST00000374315; ENSP00000363434; ENSG00000162430 [Q9NZV5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57190

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57190

UCSC genome browser

More...
UCSCi
uc021ojk.2 human [Q9NZV5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Selenocysteine

<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
AJ306399 mRNA Translation: CAC83791.1
AJ306398 Genomic DNA Translation: CAC83790.1
AL020996 Genomic DNA No translation available.
AF166125 mRNA Translation: AAF21430.1
BC015638 mRNA Translation: AAH15638.1 Different initiation.
BC042154 mRNA Translation: AAH42154.1 Different initiation.
CCDSiCCDS41282.1 [Q9NZV5-1]
CCDS41283.1 [Q9NZV5-2]
RefSeqiNP_065184.2, NM_020451.2 [Q9NZV5-1]
NP_996809.1, NM_206926.1 [Q9NZV5-2]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi121439, 29 interactors
IntActiQ9NZV5, 18 interactors
MINTiQ9NZV5
STRINGi9606.ENSP00000355141

PTM databases

iPTMnetiQ9NZV5
PhosphoSitePlusiQ9NZV5

Polymorphism and mutation databases

BioMutaiSELENON
DMDMi317373588

Proteomic databases

jPOSTiQ9NZV5
MassIVEiQ9NZV5
MaxQBiQ9NZV5
PaxDbiQ9NZV5
PeptideAtlasiQ9NZV5
PRIDEiQ9NZV5
ProteomicsDBi83517 [Q9NZV5-1]
83518 [Q9NZV5-2]

Genome annotation databases

EnsembliENST00000361547; ENSP00000355141; ENSG00000162430 [Q9NZV5-1]
ENST00000374315; ENSP00000363434; ENSG00000162430 [Q9NZV5-2]
GeneIDi57190
KEGGihsa:57190
UCSCiuc021ojk.2 human [Q9NZV5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57190
DisGeNETi57190

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SELENON
GeneReviewsiSELENON
HGNCiHGNC:15999 SELENON
HPAiHPA058076
MalaCardsiSELENON
MIMi255310 phenotype
602771 phenotype
606210 gene
neXtProtiNX_Q9NZV5
OpenTargetsiENSG00000162430
Orphaneti324604 Classic multiminicore myopathy
2020 Congenital fiber-type disproportion myopathy
84132 Desmin-related myopathy with Mallory body-like inclusions
97244 Rigid spine syndrome
PharmGKBiPA38079

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGIC Eukaryota
ENOG410XS9C LUCA
GeneTreeiENSGT00390000005972
HOGENOMiHOG000007489
InParanoidiQ9NZV5
KOiK19874
OMAiLDTDQDM
OrthoDBi817333at2759
PhylomeDBiQ9NZV5
TreeFamiTF329622

Miscellaneous databases

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

More...
ChiTaRSi
SELENON human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SEPN1

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

More...
GenomeRNAii
57190
PharosiQ9NZV5

Protein Ontology

More...
PROi
PR:Q9NZV5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162430 Expressed in 194 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiQ9NZV5 baseline and differential
GenevisibleiQ9NZV5 HS

Family and domain databases

InterProiView protein in InterPro
IPR002048 EF_hand_dom
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 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 nameiSELN_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: Q9NZV5
Secondary accession number(s): A6NJG8
, A8MQ64, Q6PI70, Q969F6, Q9NUI6
<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: January 11, 2001
Last sequence update: January 11, 2011
Last modified: October 16, 2019
This is version 159 of the entry and version 5 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, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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