NPHP1

NPHP1
Нинди таксонда бар H. sapiens[1]
Кодлаучы ген NPHP1[d][1]
Молекуляр функция structural molecule activity[d][2] һәм связывание с белками плазмы[d][3][4][5][…]
Күзәнәк компоненты цитоплазма[6], цитозоль[d][6], cell projection[d][6], мембрана[d][7], cell-cell junction[d][8], bicellular tight junction[d][6], Адгезионные контакты[d][6], реснички[d][6], photoreceptor connecting cilium[d][6], межклеточные контакты[d][6], motile cilium[d][9], цитоскелет[d][6] һәм ciliary transition zone[d][6]
Биологик процесс дифференцировка клеток[d][6], выделение[d][10], spermatid differentiation[d][6], cell projection organization[d][6][6], retina development in camera-type eye[d][6], Сперматогенез[d][6], actin cytoskeleton organization[d][2], передача сигнала[d][5], visual behavior[d][11], positive regulation of bicellular tight junction assembly[d][12], ciliary basal body-plasma membrane docking[d][6] һәм cell-cell adhesion[d][2]

NPHP1 (ингл. ) — аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[13][14]

Искәрмәләр

  1. ↑ 1,0 1,1 UniProt
  2. ↑ 2,0 2,1 2,2 Ritchie M. D. Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity // J. Biol. Chem. / L. M. Gierasch — Baltimore [etc.]: American Society for Biochemistry and Molecular Biology, 2002. — ISSN 0021-9258; 1083-351X; 1067-8816 — doi:10.1074/JBC.M111697200 — PMID:12006559
  3. ↑ Hildebrandt F. Jouberin localizes to collecting ducts and interacts with nephrocystin-1 // Kidney Int. — NPG, Elsevier, 2008. — ISSN 0085-2538; 1523-1755 — doi:10.1038/KI.2008.377 — PMID:18633336
  4. ↑ Antignac C., Saunier S., Gaetani M. et al. Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals // PLOS ONE / PLOS ONE Editors — PLoS, 2010. — ISSN 1932-6203 — doi:10.1371/JOURNAL.PONE.0012719 — PMID:20856870
  5. ↑ 5,0 5,1 Antignac C., Saunier S., Gribouval O. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin // Nature Genetics / M. Axton, T. Faial — NPG, 2002. — ISSN 1061-4036; 1546-1718 — doi:10.1038/NG996 — PMID:12244321
  6. ↑ 6,00 6,01 6,02 6,03 6,04 6,05 6,06 6,07 6,08 6,09 6,10 6,11 6,12 6,13 6,14 6,15 6,16 GOA
  7. ↑ E Otto, A Kispert, Schätzle et al. Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans // Journal of the American Society of Nephrology / J. Briggs — American Society of Nephrology, 2000. — ISSN 1046-6673; 1533-3450 — doi:10.1681/ASN.V112270 — PMID:10665934
  8. ↑ Hildebrandt F., Garcia-Gonzalo F. R., Slusarski D. C. et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways // Cell — Cell Press, Elsevier, 2011. — ISSN 0092-8674; 1097-4172 — doi:10.1016/J.CELL.2011.04.019 — PMID:21565611
  9. ↑ Olbrich H., Omran H., Schermer B. et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia // Journal of the American Society of Nephrology / J. Briggs — American Society of Nephrology, 2006. — ISSN 1046-6673; 1533-3450 — doi:10.1681/ASN.2005121351 — PMID:16885411
  10. ↑ Weissenbach J., J Calado, Gubler M. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis // Human Molecular Genetics — OUP, 1997. — ISSN 0964-6906; 1460-2083 — doi:10.1093/HMG/6.13.2317 — PMID:9361039
  11. ↑ Nürnberg P., Hildebrandt F., Otto E. et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution // Am. J. Hum. Genet. — Cell Press, Elsevier, 2002. — ISSN 0002-9297; 1537-6605 — doi:10.1086/344395 — PMID:12205563
  12. ↑ Antignac C., Saunier S., Delous M. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6 // Human Molecular Genetics — OUP, 2009. — ISSN 0964-6906; 1460-2083 — doi:10.1093/HMG/DDP434 — PMID:19755384
  13. ↑ HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланган. 18 сентябрь, 2017 тикшерелгән.
  14. ↑ UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.

Чыганаклар

  • Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука. ISBN 5-211-04971-3.(рус.)
  • Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland. ISBN 0815332181.(ингл.)

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