Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2

Genomics. 1998 Jan 15;47(2):246-57. doi: 10.1006/geno.1997.5118.

Abstract

C18orf1 is a novel brain-expressed transcript, mapping to 18p11.2. Upon further characterization, we found multiple and differentially expressed transcriptional variants. C18orf1 alpha 1, an 8.5-kb transcript, was predicted to code for a 306-amino-acid protein and a 7.1-kb 3'-untranslated region (UTR). This variant was encoded by at least six exons. Alternative transcripts included alpha 2, identical to alpha 1 but missing 18 residues, and N-terminal-truncated variants termed beta 1 and beta 2. A motif search suggested the presence of a transmembrane domain in both alpha and beta and a low-density lipoprotein receptor class A (LDLRA) domain in the alpha-specific N-terminal. In LDLR, LDLRA has been shown to be involved in binding Ca2+ and LDL, raising the possibility that C18orf1 might bind Ca2+ and an unknown ligand. We also present evidence of RNA editing in the 5'-UTR of beta 2, the first demonstration of this phenomenon in 5'-UTR.

MeSH terms

  • Adult
  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 18 / genetics*
  • Cloning, Molecular
  • Exons
  • Fetus
  • Humans
  • Infant
  • Introns
  • Membrane Proteins / biosynthesis
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Protein Structure, Tertiary
  • RNA Editing / genetics*
  • Receptors, LDL / genetics*
  • Transcription, Genetic*

Substances

  • LDLRAD4 protein, human
  • Membrane Proteins
  • Receptors, LDL

Associated data

  • GENBANK/AF009424
  • GENBANK/AF009425
  • GENBANK/AF009426
  • GENBANK/AF009427
  • GENBANK/AF009428
  • GENBANK/AF009429
  • GENBANK/AF009430
  • GENBANK/AF009431
  • GENBANK/AF009432
  • GENBANK/AF009433
  • GENBANK/AF009434
  • GENBANK/AF009435
  • GENBANK/AF009436
  • GENBANK/AF009437