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PWP2  -  PWP2 periodic tryptophan protein homolog...

Homo sapiens

Synonyms: EHOC-17, PWP2H, Periodic tryptophan protein 2 homolog, UTP1
 
 
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High impact information on PWP2

  • The PWP2 gene is split into 21 exons, ranging in size from 53 to 516 bp, and spans an estimated 25 kb [1].
  • A homology search using the sequence obtained from either side of the NotI site identified an expressed sequence tag with homology to the yeast periodic tryptophan protein 2 (PWP2) [1].
  • Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21 [2].
  • The 919-codon open reading frame of human PWP2 belongs to the family of genes that contain tryptophan-aspartate (WD) repeats; other than its yeast counterpart, PWP2 is most closely homologous to the beta subunits of the trimeric G-protein family and may putatively be involved in signal transduction [3].
  • PFGE analysis showed that PWP2H is located proximal to D21S25 and distal to TMEM1 [4].
 

Biological context of PWP2

  • PWP2H cDNA was isolated from a 14 week human trisomy 21 fetal brain cDNA library by using a modification of a direct cDNA selection method [4].
  • The structure of the putative PWP2H protein contains 6 WD40 repeats, 2 acidic regions and one leucine zipper domain, suggesting that the protein may form specific protein complexes in which the WD40 repeats and the leucine zipper represent protein-protein binding sites [4].
 

Analytical, diagnostic and therapeutic context of PWP2

  • Northern blot analysis revealed that the PWP2 gene is expressed in all fetal and adult human tissues examined (3.4 kb mRNA species) [3].

References

  1. Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3. Lafrenière, R.G., Rochefort, D.L., Chrétien, N., Neville, C.E., Korneluk, R.G., Zuo, L., Wei, Y., Lichter, J., Rouleau, G.A. Genome Res. (1996) [Pubmed]
  2. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F., Shimizu, N. Genomics (1997) [Pubmed]
  3. Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Lalioti, M.D., Chen, H., Rossier, C., Shafaatian, R., Reid, J.D., Antonarakis, S.E. Genomics (1996) [Pubmed]
  4. A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. Yamakawa, K., Gao, D.Q., Korenberg, J.R. Cytogenet. Cell Genet. (1996) [Pubmed]
 
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