The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein

PLoS One. 2017 Jul 7;12(7):e0180731. doi: 10.1371/journal.pone.0180731. eCollection 2017.

Abstract

Mutations in the immunoglobulin superfamily, member 1 gene (IGSF1/Igsf1) cause an X-linked form of central hypothyroidism. The canonical form of IGSF1 is a transmembrane glycoprotein with 12 immunoglobulin (Ig) loops. The protein is co-translationally cleaved into two sub-domains. The carboxyl-terminal domain (CTD), which contains the last 7 Ig loops, is trafficked to the plasma membrane. Most pathogenic mutations in IGSF1 map to the portion of the gene encoding the CTD. IGSF1/Igsf1 encodes a variety of transcripts. A little studied, but abundant splice variant encodes a truncated form of the protein, predicted to contain the first 2 Ig loops of the full-length IGSF1. The protein (hereafter referred to as IGSF1 isoform 2 or IGSF1-2) is likely retained in most individuals with IGSF1 mutations. Here, we characterized basic biochemical properties of the protein as a foray into understanding its potential function. IGSF1-2, like the IGSF1-CTD, is a glycoprotein. In both mouse and rat, the protein is N-glycosylated at a single asparagine residue in the first Ig loop. Contrary to earlier predictions, neither the murine nor rat IGSF1-2 is secreted from heterologous or homologous cells. In addition, neither protein associates with the plasma membrane. Rather, IGSF1-2 appears to be retained in the endoplasmic reticulum. Whether the protein plays intracellular functions or is trafficked through the secretory pathway under certain physiologic or pathophysiologic conditions has yet to be determined.

MeSH terms

  • Animals
  • Cell Membrane / genetics
  • Cytoplasm / metabolism
  • Humans
  • Hypothyroidism / genetics*
  • Hypothyroidism / pathology
  • Immunoglobulins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mice
  • Mutation
  • Protein Isoforms / genetics*
  • RNA Isoforms / genetics
  • RNA, Messenger / genetics*
  • Rats
  • Testis / metabolism
  • Testis / pathology

Substances

  • IGSF1 protein, human
  • Immunoglobulins
  • Membrane Proteins
  • Protein Isoforms
  • RNA Isoforms
  • RNA, Messenger

Grants and funding

This work was supported by operating grants from the Canadian Institutes of Health Research (MOP-133557) and Natural Sciences and Engineering Research Council of Canada (2015-05178) to DJB. EB received a McGill Centre for Research in Reproduction and Development Scholarship. BB was supported by an NSERC Doctoral Research Award. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.