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This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessiv... See more...
Aliases for SELENON Gene
Aliases for SELENON Gene
External Ids for SELENON Gene
- HGNC: 15999
- Entrez Gene: 57190
- Ensembl: ENSG00000162430
- OMIM: 606210
- UniProtKB: Q9NZV5
Previous HGNC Symbols for SELENON Gene
- RSMD1
- MDRS1
- SEPN1
Summaries for SELENON Gene
-
This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
GeneCards Summary for SELENON Gene
SELENON (Selenoprotein N) is a Protein Coding gene. Diseases associated with SELENON include Rigid Spine Muscular Dystrophy 1 and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Folate Metabolism. An important paralog of this gene is BEND2.
UniProtKB/Swiss-Prot Summary for SELENON Gene
-
[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 H(2)O(2), 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).
-
Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).
Additional gene information for SELENON Gene
- HGNC(15999)
- Entrez Gene(57190)
- Ensembl(ENSG00000162430)
- OMIM(606210)
- UniProtKB(Q9NZV5)
- Open Targets Platform(ENSG00000162430)
- Monarch Initiative
- Search for SELENON at DataMed
- Search for SELENON at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SELENON Gene
Genomics for SELENON Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SELENON Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01J025799 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 630.3 | +0.1 | 110 | 2.6 | ZNF692 PATZ1 ZNF331 POLR2A ZNF600 ZFX SCRT2 NONO KLF9 MGA | SELENON MTFR1L ENSG00000255054 | |
| GH01J025800 | Promoter/Enhancer | 0.9 | Ensembl dbSUPER | 631.2 | -1.6 | -1575 | 0.4 | PKNOX1 PATZ1 CTCF OSR2 ZBTB48 ZBTB17 ZFP91 GLIS1 ZSCAN21 | SELENON MTFR1L lnc-SELENON-2 MAN1C1 | |
| GH01J025798 | Enhancer | 0.8 | ENCODE dbSUPER | 600.7 | -2.0 | -1991 | 0.2 | CTCF PKNOX1 PATZ1 REST ZNF600 ZBTB48 SMC3 ZBTB17 RAD21 SIN3A | SELENON MTFR1L lnc-SELENON-2 MAN1C1 | |
| GH01J025818 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 630.4 | +17.3 | 17286 | 0.1 | SELENON MTFR1L ENSG00000228172 ENSG00000255054 | ||
| GH01J025812 | Promoter | 0.4 | EPDnew | 600.4 | +12.4 | 12408 | 0.1 | ZSCAN4 | ENSG00000255054 SELENON MTFR1L |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SELENON on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SELENON
Genomic Locations for SELENON Gene
Genomic Locations for SELENON Gene
- chr1:25,800,176-25,818,221
- (GRCh38/hg38)
- Size:
- 18,046 bases
- Orientation:
- Plus strand
- chr1:26,126,667-26,144,713
- (GRCh37/hg19)
- Size:
- 18,047 bases
- Orientation:
- Plus strand
Genomic View for SELENON Gene
Genes around SELENON on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.11 by HGNC
- 1p36.11 by Entrez Gene
- 1p36.11 by Ensembl
SELENON Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SELENON Gene
Proteins for SELENON Gene
-
Protein details for SELENON Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NZV5-SELN_HUMAN
- Recommended name:
- Selenoprotein N
- Protein Accession:
- Q9NZV5
- A6NJG8
- A8MQ64
- Q6PI70
- Q969F6
- Q9NUI6
Protein attributes for SELENON Gene
- Size:
- 590 amino acids
- Molecular mass:
- 65813 Da
- Quaternary structure:
-
- [Isoform 2]: Interacts with RYR1, RYR2 and RYR3 (PubMed:18713863).
- SequenceCaution:
-
- Sequence=AAH15638.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH42154.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 1]: The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.
- [Isoform 2]: The UGA codon present in position 428 is either a selenocysteine or a real stop codon.
Post-translational modifications for SELENON Gene
- [Isoform 2]: N-glycosylated.
-
Glycosylation at Asn126, Asn190, Asn483, Asn505, and Asn531
- NX_Q9NZV5 (NX_Q9NZV5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SELENON Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SEPN1 (aa 507-557) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SELENON
- Novus Biologicals Antibodies for SELENON
-
Abcam antibodies for SELENON
- Invitrogen Antibodies for SELENON (AFLGC-SELENON)
-
Biorbyt antibodies for SELENON
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SELENON
- Origene Custom Protein Services for SELENON
- Novus Biologicals proteins for SELENON
Assay Products
- antibodies-online: Show 3 available SEPN1 Elisa Kits ranked by validation data
- Compare Top SEPN1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SELENON Gene
Domains & Families for SELENON Gene
Gene Families for SELENON Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SELENON Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SELENON Gene
- GenScript: Design optimal peptide antigens:
-
- Selenoprotein N (SELN_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NZV5UniProtKB/Swiss-Prot:
SELN_HUMAN :- [Isoform 2]: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
- Domain:
-
- [Isoform 2]: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
Function for SELENON Gene
Molecular function for SELENON Gene
- UniProtKB/Swiss-Prot Function:
- [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 H(2)O(2), 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).
- UniProtKB/Swiss-Prot Function:
- Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).
Phenotypes From GWAS Catalog for SELENON Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 17474147 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for SELENON Gene
- MGI mutant phenotypes for SELENON:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SELENON:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased cell number in G2M, increased nuclei size in G2M
- Increased NF-kappaB reporter expression
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased viability with paclitaxel
- Two nuclei (binuclear)
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
Animal Models for SELENON Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SELENON - Select products 50% OFF >
- * SELENON CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SELENON
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SELENON
miRNA for SELENON Gene
- miRTarBase miRNAs that target SELENON
-
- hsa-miR-193b-3p (MIRT016424)
- hsa-miR-423-5p (MIRT038142)
- hsa-miR-423-3p (MIRT042527)
- hsa-miR-331-3p (MIRT043560)
- hsa-miR-149-5p (MIRT045474)
- hsa-miR-4293 (MIRT066278)
- hsa-miR-3180-5p (MIRT441902)
- hsa-miR-525-5p (MIRT441903)
- hsa-miR-520a-5p (MIRT441904)
- hsa-miR-6845-5p (MIRT441905)
- hsa-miR-6762-5p (MIRT441906)
- hsa-miR-2115-5p (MIRT441907)
- hsa-miR-646 (MIRT441908)
- hsa-miR-4506 (MIRT441909)
- hsa-miR-384 (MIRT653948)
- hsa-miR-6772-3p (MIRT653949)
- hsa-miR-6749-3p (MIRT653950)
- hsa-miR-7975 (MIRT653951)
- hsa-miR-5571-3p (MIRT653952)
- hsa-miR-6802-3p (MIRT653953)
- hsa-miR-4448 (MIRT653954)
- hsa-miR-6837-3p (MIRT653955)
- hsa-miR-4268 (MIRT653956)
- hsa-miR-6754-3p (MIRT653957)
- hsa-miR-412-3p (MIRT653958)
- hsa-miR-4469 (MIRT653959)
- hsa-miR-136-5p (MIRT653960)
- hsa-miR-4667-3p (MIRT653961)
- hsa-miR-1470 (MIRT653962)
- hsa-miR-596 (MIRT653963)
- hsa-miR-193a-3p (MIRT732270)
- hsa-miR-1184 (MIRT735901)
- hsa-miR-1205 (MIRT735991)
- hsa-miR-1207-5p (MIRT736057)
- hsa-miR-1228-5p (MIRT736187)
- hsa-miR-1233-5p (MIRT736264)
- hsa-miR-1296-3p (MIRT737220)
- hsa-miR-17-3p (MIRT738008)
- hsa-miR-185-5p (MIRT738263)
- hsa-miR-3135a (MIRT740120)
- hsa-miR-3158-5p (MIRT740483)
- hsa-miR-342-5p (MIRT741407)
- hsa-miR-3714 (MIRT742571)
- hsa-miR-4270 (MIRT743596)
- hsa-miR-4306 (MIRT743920)
- hsa-miR-4433b-3p (MIRT744385)
- hsa-miR-4441 (MIRT744563)
- hsa-miR-4481 (MIRT745122)
- hsa-miR-4514 (MIRT745724)
- hsa-miR-4644 (MIRT746392)
- hsa-miR-4651 (MIRT746577)
- hsa-miR-4659a-5p (MIRT746678)
- hsa-miR-4659b-5p (MIRT746683)
- hsa-miR-4664-5p (MIRT746742)
- hsa-miR-4692 (MIRT747131)
- hsa-miR-4710 (MIRT747425)
- hsa-miR-4745-5p (MIRT748193)
- hsa-miR-4763-3p (MIRT748565)
- hsa-miR-608 (MIRT752014)
- hsa-miR-6731-5p (MIRT754034)
- hsa-miR-6737-5p (MIRT754250)
- hsa-miR-6742-5p (MIRT754393)
- hsa-miR-6747-5p (MIRT754534)
- hsa-miR-6754-5p (MIRT754738)
- hsa-miR-6756-5p (MIRT754822)
- hsa-miR-6758-5p (MIRT754887)
- hsa-miR-6760-5p (MIRT754943)
- hsa-miR-6766-5p (MIRT755130)
- hsa-miR-6778-5p (MIRT755460)
- hsa-miR-6804-5p (MIRT756447)
- hsa-miR-6808-5p (MIRT756599)
- hsa-miR-6812-5p (MIRT756719)
- hsa-miR-6819-5p (MIRT756867)
- hsa-miR-6856-5p (MIRT757733)
- hsa-miR-6893-5p (MIRT758744)
- hsa-miR-7854-3p (MIRT759936)
- hsa-miR-8085 (MIRT760238)
- hsa-miR-940 (MIRT760840)
- hsa-miR-1301-5p (MIRT762400)
- hsa-miR-3616-3p (MIRT766087)
- hsa-miR-4269 (MIRT768240)
- hsa-miR-4435 (MIRT769105)
- hsa-miR-4459 (MIRT769341)
- hsa-miR-4742-5p (MIRT771892)
- hsa-miR-4777-5p (MIRT772236)
- hsa-miR-4779 (MIRT772249)
- hsa-miR-517-5p (MIRT773472)
- hsa-miR-5582-5p (MIRT774722)
- hsa-miR-6502-5p (MIRT776564)
- hsa-miR-6715b-5p (MIRT777694)
- hsa-miR-6784-5p (MIRT779089)
- hsa-miR-6822-3p (MIRT779864)
- hsa-miR-873-5p (MIRT782497)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SELENON
- Browse OriGene Inhibitory RNA Products For SELENON
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SELENON
Clone Products
- Applied Biological Materials (abm): Clones for SELENON - Select products 50% OFF >
- * SELENON as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SELENON
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SELENON
Cell Line Products
-
Horizon Cell Lines for SELENON
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SELENON Gene
Localization for SELENON Gene
Subcellular locations from UniProtKB/Swiss-Prot for SELENON Gene
- [Isoform 2]: Endoplasmic reticulum membrane.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IDA | 12700173 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SELENON Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Folate Metabolism | ||
Pathways by source for SELENON Gene
1 BioSystems pathway for SELENON Gene
Interacting Proteins for SELENON Gene
Selected Interacting proteins:
Q9NZV5-SELN_HUMAN
ENSP00000355141
for SELENON Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SELENON
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0048741 | skeletal muscle fiber development | IBA | 21873635 |
| GO:0055074 | calcium ion homeostasis | IBA,IMP | 19557870 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
| GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | IMP | 18713863 |
| GO:1902884 | positive regulation of response to oxidative stress | IMP | 19557870 |
No data available for SIGNOR curated interactions for SELENON Gene
Transcripts for SELENON Gene
mRNA/cDNA for SELENON Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354177 4227 nts (view in UCSC)
- ENST00000361547 4314 nts (view in UCSC)
- ENST00000374315 4212 nts (view in UCSC)
- ENST00000494537 812 nts (view in UCSC)
- ENST00000630065 2994 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SELENON - Select products 50% OFF >
- * SELENON CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SELENON
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SELENON
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SELENON
- Browse OriGene Inhibitory RNA Products For SELENON
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SELENON
Clone Products
- Applied Biological Materials (abm): Clones for SELENON - Select products 50% OFF >
- * SELENON as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SELENON
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SELENON
Relevant External Links for SELENON Gene
- GeneLoc Exon Structure for
- SELENON
Expression for SELENON Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SELENON
mRNA Expression by UniProt/SwissProt for SELENON Gene:
Q9NZV5-SELN_HUMAN
Tissue specificity:
Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
Evidence on tissue expression from TISSUES for SELENON Gene
- Lung(4.4)
- Liver(4.4)
- Nervous system(3.7)
- Skin(3.5)
- Muscle(3.1)
- Thyroid gland(2.7)
- Heart(2.4)
- Kidney(2.4)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SELENON Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- chest wall
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- stomach
Pelvis:
- pelvis
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SELENON
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SELENON Gene
Orthologs for SELENON Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SEPN1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sepn1 30 31 |
|
OneToOne | |
| Selenon 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Sepn1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPN1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SEPN1 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sepn1 30 |
|
||
| LOC394859 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | sepn1 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9228 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13336 30 |
|
- Species where no ortholog for SELENON was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Paralogs for SELENON Gene
Variants for SELENON Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SELENON Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 623320 | Pathogenic: Eichsfeld type congenital muscular dystrophy | 25,800,232(+) | T/TGGGCC | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
| 641007 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,812,784(+) | C/T | MISSENSE_VARIANT | |
| 642172 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,813,920(+) | C/G | MISSENSE_VARIANT | |
| 643597 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,808,577(+) | C/T | INTRON_VARIANT | |
| 644963 | Uncertain Significance: Eichsfeld type congenital muscular dystrophy | 25,802,013(+) | C/G | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv14e201 | CNV | deletion | 23290073 |
| esv2353706 | CNV | deletion | 18987734 |
| esv2742604 | CNV | deletion | 23290073 |
| esv2745652 | CNV | deletion | 23290073 |
| nsv460884 | CNV | loss | 19166990 |
| nsv545883 | CNV | loss | 21841781 |
| nsv7490 | CNV | deletion | 18451855 |
| nsv834491 | CNV | loss | 17160897 |
| nsv950337 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.65;
56.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SELENON Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SELENON Gene
Disorders for SELENON Gene
(36) MalaCards diseases for SELENON Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rigid spine muscular dystrophy 1 |
|
|
| myopathy, congenital, with fiber-type disproportion |
|
|
| congenital fiber-type disproportion |
|
|
| rigid spine muscular dystrophy |
|
|
| myopathy, congenital |
|
Search SELENON in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SELN_HUMAN- Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A 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. {ECO:0000269 PubMed:11528383, ECO:0000269 PubMed:12192640, ECO:0000269 PubMed:15122708, ECO:0000269 PubMed:15668457, ECO:0000269 PubMed:18713863, ECO:0000269 PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A 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. {ECO:0000269 PubMed:16365872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SELENON
No data available for Genatlas for SELENON Gene
Publications for SELENON Gene
- Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. (PMID: 19557870) Arbogast S … Ferreiro A (Annals of neurology 2009) 3 4 23
- A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. (PMID: 19067361) Maiti B … Howard MT (Human mutation 2009) 3 4 23
- Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. (PMID: 15122708) Ferreiro A … Bönnemann CG (Annals of neurology 2004) 3 4 23
- Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PMID: 12700173) Petit N … Guicheney P (Human molecular genetics 2003) 3 4 23
- Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. (PMID: 12192640) Ferreiro A … Guicheney P (American journal of human genetics 2002) 3 4 23
ExternalLinks
Products for SELENON Gene
- Custom Antibody ServicesOriGene Antibodies for SELENON
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- antibodies-online: Show 15 available SEPN1 Antibodies ranked by validation data
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- Biorbyt antibodies for SELENON
Sources for SELENON Gene
- (1) GeneCards
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