NCIt definition : Human RTN1 wild-type allele is located in the vicinity of 14q23.1 and is approximately
275 kb in length. This allele, which encodes reticulon-1 protein, is involved in the
mediation of either neuroendocrine hormone secretion or membrane trafficking in neuroendocrine
cells.;
NCIt note : The RTN1 gene is expressed from multiple promoters in neural and neuroendocrine tissues
as 3.4-, 2.3-, and 1.8 kb transcripts, which encode 3 isoforms (A, B, C) of reticulon
1 with unique N termini. RTN1-A produces a 776-aa 135-kD Ser/Pro-rich protein that
contains multiple potential phosphorylation sites; RTN1-B is 356-aa and RTN1-C is
208-aa. RTN1-A and RTN1-B activity may be regulated by phosphorylation and the expression
of RTN1-C corresponds with neuronal differentiation.;
OMIM relation