The NNP-1 gene (D21S2056E), which encodes a novel nuclear protein, maps in close proximity to the cystatin B gene within the EPM1 and APECED critical region on 21q22.3.
We have cloned and molecularly characterized a novel human cDNA that encodes a protein of about 52 kDa that was shown by immunocytochemistry to have a nuclear localization. Northern blot analysis of a variety of human tissues revealed that the gene for this novel nuclear protein, designated NNP-1 (HGMW-approved symbol D21S2056E), is ubiquitously expressed as a 2.0-kb transcript. The NNP-1 protein displays significant sequence similarity to the C47E12.7 protein of Caenorhabditis elegans (38% identity and 58% similarity) and the YD78 protein of Saccharomyces cerevisiae (36% identity and 54% similarity). The human NNP-1 gene was mapped to a 15-kb DNA interval on chromosome 21q22.3, close to markers D21S1459 and D21S1953, that is 25 kb distal to the gene encoding cystatin B. Finally, an as-yet unknown gene that is highly related to NNP-1 was found proximal to the gene encoding cystatin B, near marker D21S1458, which is approximately 75 kb centromeric to the NNP-1 gene.
Jansen
E
E
Laboratory for Molecular Oncology, Center for Human Genetics, University of Leuven, Belgium.
Meulemans
S M
SM
Orlans
I C
IC
Van de Ven
W J
WJ
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D055313:Cystatin B; D015891:Cystatins / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D014162:Transfection
C524994:CSTB protein, human; D015891:Cystatins; D018076:DNA, Complementary; D005819:Genetic Markers; D009687:Nuclear Proteins; C107468:RRP1 protein, human; D055313:Cystatin B