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.
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.
Nagamine
K
K
Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
Kudoh
J
J
Minoshima
S
S
Kawasaki
K
K
Asakawa
S
S
Ito
F
F
Shimizu
N
N
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D018076:DNA, Complementary; D006801:Humans; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D011506:Proteins; D017386:Sequence Homology, Amino Acid
D018076:DNA, Complementary; D024101:Mitochondrial Proteins; D011506:Proteins; C489737:GAD3 protein, human