SELENON
entrez
57190
canonical
uniprot
Q9NZV5
canonical
ensembl
ENSG00000162430
resolver
ensp
ENSP00000355141
resolver
ensp
ENSP00000363434
resolver
enst
ENST00000361547
resolver
enst
ENST00000374315
resolver
genesymbol
SELENON
resolver
genesymbol_syn
SELN
resolver
genesymbol_syn
SEPN1
resolver
hgnc
HGNC:15999
resolver
uniprot
A6NJG8
resolver
uniprot
A8MQ64
resolver
uniprot
Q6PI70
resolver
uniprot
Q969F6
resolver
uniprot
Q9NUI6
resolver
uniprot_entry
SELN_HUMAN
resolver
uniprot_sec
A6NJG8
resolver
uniprot_sec
A8MQ64
resolver
uniprot_sec
Q6PI70
resolver
uniprot_sec
Q969F6
resolver
uniprot_sec
Q9NUI6
resolver
amino_acid_sequence
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLDTDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLNUSSCLSLLRSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSCUGSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 3 with rigid spine (CMYO3) [MIM:602771]: An autosomal recessive, slowly progressive muscular disorder apparent from birth or early childhood and characterized by hypotonia, proximal muscle weakness, poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Most patients remain ambulatory. Early ventilatory insufficiency may lead to death by respiratory failure. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in patients with a low BMI. Skeletal muscle biopsy typically shows multiminicores and other abnormal non-specific myopathic findings. {ECO:0000269|PubMed:11528383, ECO:0000269|PubMed:12192640, ECO:0000269|PubMed:15122708, ECO:0000269|PubMed:15668457, ECO:0000269|PubMed:16365872, ECO:0000269|PubMed:18713863, ECO:0000269|PubMed:19067361}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:18713863, PubMed:19557870). {ECO:0000269|PubMed:18713863, ECO:0000269|PubMed:19557870, ECO:0000269|PubMed:25452428}.; FUNCTION: Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290). {ECO:0000269|PubMed:21131290}.
uniprot
proteins
mass_dalton
65813
uniprot
proteins
post_translational_modification
PTM: [Isoform 2]: N-glycosylated. {ECO:0000269|PubMed:12700173}.
uniprot
proteins
pubmed
10608886
uniprot
proteins
pubmed
11528383
uniprot
proteins
pubmed
12192640
uniprot
proteins
pubmed
12700173
uniprot
proteins
pubmed
15122708
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15668457
uniprot
proteins
pubmed
16365872
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18713863
uniprot
proteins
pubmed
19067361
uniprot
proteins
pubmed
19557870
uniprot
proteins
pubmed
19769461
uniprot
proteins
pubmed
21131290
uniprot
proteins
pubmed
22527882
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25452428
uniprot
proteins
pubmed
27645994
uniprot
proteins
sequence_length
590
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12700173}.
uniprot
proteins