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

Notes

• the UGA codon present in position 127 is either a selenocysteine or a real stop codon

More general terms

• selenoprotein
• Ca+2 binding protein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57190
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57190
• OMIM: https://mirror.omim.org/entry/602771
• OMIM: https://mirror.omim.org/entry/606210
• UniProt: http://www.uniprot.org/uniprot/Q9NZV5.html