The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Function:
Binds to the SECIS element in the 3'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed at high levels in testis.
DISEASE:
Defects in SECISBP2 are a cause of abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]. This phenotype is associated with a reduction in type II iodothyronine deiodinase activity.
SWISS:
Q96T21
Gene ID:
79048
Database links:
Entrez Gene: 79048 Human
Entrez Gene: 464583 Chimpanzee
Entrez Gene: 511202 Cow
Entrez Gene: 476351 Dog
Entrez Gene: 101128509 Gorilla
Entrez Gene: 75420 Mouse
Entrez Gene: 79049 Rat
Entrez Gene: 697442 Rhesus monkey
Omim: 607693 Human
SwissProt: Q96T21 Human
SwissProt: Q9QX72 Rat
Unigene: 51964 Human
Unigene: 25076 Rat
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