NP_065184.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
65,813 Da
NCBI Official Full Name
selenoprotein N isoform 1
NCBI Official Synonym Full Names
selenoprotein N, 1
NCBI Protein Information
selenoprotein N
UniProt Protein Name
Selenoprotein N
UniProt Synonym Gene Names
UniProt Entry Name
SELN_HUMAN
NCBI Summary for SEPN1
This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for SEPN1
SEPN1: Defects in SEPN1 are the cause of rigid spine muscular dystrophy 1 (RSMD1). 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. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 1p36.13
Cellular Component: endoplasmic reticulum membrane
Molecular Function: protein binding; calcium ion binding
Disease: Rigid Spine Muscular Dystrophy 1
Research Articles on SEPN1
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Products associated with SEPN1 elisa kit
Pathways associated with SEPN1 elisa kit
Diseases associated with SEPN1 elisa kit
Organs/Tissues associated with SEPN1 elisa kit
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