Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3

Biochem Biophys Res Commun. 1996 Aug 14;225(2):608-16. doi: 10.1006/bbrc.1996.1218.

Abstract

We have isolated cDNA clones for a novel human protein KNP-I from fetal brain and bone marrow cDNA libraries. Northern blot analysis indicated that the KNP-I gene is ubiquitously expressed in various human tissues. Significant homology of the KNP-I protein with Escherichia coli anti-sigma cross-reacting protein (SCRP-27A) (44% identity) and zebrafish (Brachydanio rerio) esl protein (49% identity) suggested that the KNP-I protein may be involved in a basic cellular function. Genomic sequencing revealed that the KNP-I gene consists of seven exons spanning 12 kb. Exon 5 was involved in alternative splicing. The KNP-I gene was mapped between D21S1460 and D21S25 on human chromosome 21q22.3, 26 kb distal to a Not 1 site of D21S1460. Thus, this novel KNP-I gene could be a candidate gene for autoimmune polyglandular disease type I (APECED) and other disorders mapped to this region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Cloning, Molecular
  • DNA, Complementary
  • Humans
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Polyendocrinopathies, Autoimmune / genetics*
  • Proteins*
  • Sequence Homology, Amino Acid

Substances

  • DNA, Complementary
  • GATD3A protein, human
  • Mitochondrial Proteins
  • Proteins

Associated data

  • GENBANK/AB001517
  • GENBANK/D86060
  • GENBANK/D86061
  • GENBANK/D86062