Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1

J Hum Genet. 1999;44(5):330-6. doi: 10.1007/s100380050171.


We have isolated the complete cDNA of a human SEL-1L gene, termed TSA305, that is abundantly expressed only in the pancreas. The cDNA contained an open reading frame of 2382 nucleotides, encoding a deduced protein of 794 amino acids whose predicted sequence showed 46% identity and 64% similarity with SEL-1 of Caenorhabditis elegans. SEL-1 is thought to be a negative regulator of the NOTCH, LIN-12, and GLP-1 receptors, which are required for differentiation and maturation of cells as well as cell-cell interactions during development in C. elegans. The degree of homology among these proteins suggests that the TSA305 gene product may be a member of the SEL-1 family and therefore involved in downregulation of mammalian Notch signaling. Direct sequencing revealed at least 20 coding exons in TSA305. We localized the gene to chromosome bands 14q24.3-q31 by radiation hybrid (RH) mapping and fluorescence in situ hybridization (FISH). The IDDM11 locus has been mapped in this region, and TSA305 may represent a candidate gene for predisposition in some families whose insulin-dependent diabetes is not linked to the HLA locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Caenorhabditis elegans / genetics*
  • Caenorhabditis elegans Proteins*
  • DNA, Complementary / genetics*
  • Helminth Proteins / chemistry
  • Helminth Proteins / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Metalloendopeptidases / chemistry
  • Mice
  • Molecular Sequence Data
  • Pancreas / metabolism*
  • Proteins / chemistry
  • Proteins / genetics*
  • Rabbits
  • Sequence Alignment
  • Sequence Homology, Amino Acid


  • Caenorhabditis elegans Proteins
  • DNA, Complementary
  • Helminth Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins
  • SEL-1 protein, C elegans
  • SEL1L protein, human
  • Sel1h protein, mouse
  • Metalloendopeptidases