Nephrin
| Nephrin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1219 amino acids | |
| Isoforms | 2 | |
| Identifier | ||
| Gene names | NPHS1 ; CNF; NPHN | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Jaws | |
| Orthologue | ||
| human | mouse | |
| Entrez | 4868 | 54631 |
| Ensemble | ENSG00000161270 | ENSMUSG00000006649 |
| UniProt | O60500 | Q925S5 |
| Refseq (mRNA) | NM_004646 | NM_019459 |
| Refseq (protein) | NP_004637 | NP_062332 |
| Gene locus | Chr 19: 41.01 - 41.03 Mb | Chr 7: 30.17 - 30.2 Mb |
| PubMed search | 4868 |
54631
|
Nephrin is a protein that plays a key role in building the slit membrane of the kidney corpuscle . In addition, nephrin is involved in signal transmission in the area of the kidney corpuscle. Nephrin is encoded by the NPHS1 gene, which is located in humans on chromosome 19 gene locus q13.12.
A mutation in NPHS1 is the cause of the Finnish type of congenital nephrotic syndrome , a rare autosomal recessive hereditary disease that occurs within three months of birth and leads to severe protein loss in the urine.
It was discovered by Karl Tryggvason .
Web links
- The glomerular slit diaphragm . - Slit membrane, three-dimensional representation (English, from Martin R Pollak: Expanding the spectrum of NPHS1-associated disease . In: Kidney Int . Dec; 76 (12), 2009, p. 1221-1223 , PMID 19946311 . )
Individual evidence
- ^ Karl Tryggvason: Unraveling the Mechanisms of Glomerular Ultrafiltration: Nephrin, a Key Component of the Slit Diaphragm . In: J Am Soc Nephrol . No. 10 , 1999, p. 2440-2445 ( jasn.asnjournals.org ).
- ↑ J. Wartiovaara et al .: nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography . In: J. Clin. Invest. , 2004, 114, pp. 1475-1483.
- ↑ Thomas Benzing: Signaling at the Slit Diaphragm . In: J Am Soc Nephrol , 2004, 15, pp. 1382-1391.
- ↑ NPHS1 genes. In: genecards.org. Retrieved September 15, 2015 .
- ↑ Nephrin. In: Online Mendelian Inheritance in Man . (English)
- ↑ P. Niaudet: Congenital nephrotic syndrome, type Finnish . (PDF) orpha.net.
- ↑ Tetyana Drozdova, Joan Papillon, Andrey V. Cybulsky: nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions . In: Physiological Reports . tape 1 , no. 4 , 2013, ISSN 2051-817X , p. e00086 , doi : 10.1002 / phy2.86 , PMID 24303155 (free full text).
- ↑ Marjo Kestilä, Ulla Lenkkeri, Minna Männikkö, Jane Lamerdin, Paula McCready, Heli Putaala, Vesa Ruotsalainen, Takako Morita, Marja Nissinen, Riitta Herva, Clifford E. Kashtan, Leena Peltonen, Christer Holmberg, Anne Olsen, Karl Tryggvason: Positionally Gene for a Novel Glomerular Protein — Nephrin — Is Mutated in Congenital Nephrotic Syndrome . In: Molecular Cell . tape 1 , no. 4 , December 1997, pp. 575-582 , doi : 10.1016 / S1097-2765 (00) 80057-X (free full text).