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selenoprotein N; selN (SEPN1, SELN)
Structure:
- N-glycosylated (isoform 2)
- the N-terminus contains an endoplasmic reticulum retention signal
- contains 1 EF-hand domain
Compartment:
- isoform 2: endoplasmic reticulum membrane (probable)
Alternative splicing: named isoforms=2
Expression:
- isoform 1 & isoform 2 are expressed in skeletal muscle, brain, lung & placenta
- isoform 2 is also expressed in heart, diaphragm & stomach
Pathology:
- defects in SEPN1 are the cause of myopathy SEPN-related
Note:
- the UGA codon present in position 127 is either a selenocysteine or a real stop codon
General
Ca+2 binding protein
glycoprotein
selenoprotein
Properties
SIZE: entity length = 590 aa
MW = 66 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: signal sequence {1-43}
alanine-rich region {17-59}
MOTIF: alanine residue (SEVERAL)
EF hand
SITE: 67-102
N-glycosylation site {N126}
selenocysteine residue {C127}
N-glycosylation site {N190}
selenocysteine residue {C462}
N-glycosylation site {N483}
N-glycosylation site {N505}
N-glycosylation site {N531}
Database Correlations
OMIM correlations
MORBIDMAP 606210
UniProt Q9NZV5
Entrez Gene 57190
Kegg hsa:57190
References
- UniProt :accession Q9NZV5
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SEPN1