Podocin: Difference between revisions
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'''Podocin''' is a [[protein]] component of the [[filtration slits]] of [[podocytes]]. [[Glomerulus (kidney)|Glomerular capillary endothelial cells]], the [[glomerular basement membrane]] and the filtration slits function as the filtration barrier of the [[kidney]] [[glomerulus]].<ref>{{ | '''Podocin''' is a [[protein]] component of the [[filtration slits]] of [[podocytes]]. [[Glomerulus (kidney)|Glomerular capillary endothelial cells]], the [[glomerular basement membrane]] and the filtration slits function as the filtration barrier of the [[kidney]] [[glomerulus]].<ref>{{cite journal | vauthors = Jarad G, Miner JH | title = Update on the glomerular filtration barrier | journal = Current Opinion in Nephrology and Hypertension | volume = 18 | issue = 3 | pages = 226–32 | date = May 2009 | pmid = 19374010 | pmc = 2895306 | doi = 10.1097/mnh.0b013e3283296044 }}</ref> | ||
| | Mutations in the podocin gene [[NPHS2]] can cause [[nephrotic syndrome]], such as [[focal segmental glomerulosclerosis]] ([[FSGS]]) or [[minimal change disease]] (MCD).<ref>{{cite journal | vauthors = Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL | title = Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome | journal = Journal of the American Society of Nephrology | volume = 20 | issue = 10 | pages = 2181–9 | date = October 2009 | pmid = 19713307 | pmc = 2754108 | doi = 10.1681/ASN.2009040379 }}</ref> Symptoms may develop in the first few months of life ([[congenital nephrotic syndrome]]) or later in childhood.<ref>{{Cite book |title=Pediatric Nephrology| first1 = Ellis D | last1 = Avner | first2 = William E | last2 = Harmon | first3 = Patrick | last3 = Niaudet | first4 = Norishige | last4 = Yoshikawa | first5 = Francesco | last5 = Emma | first6 = Stuart L | last6 = Goldstein | name-list-format = vanc |date=2016 |publisher=Springer |isbn=9783662435960 |oclc=1050008865}}</ref> | ||
| title = Update on the glomerular filtration barrier | |||
| journal = Current Opinion in Nephrology and Hypertension | |||
| volume = 18 | |||
| issue = 3 | |||
| pages = | |||
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| pmid = 19374010 | |||
| pmc = 2895306 | |||
}}</ref> | |||
Mutations in the podocin gene [[NPHS2]] can cause [[nephrotic syndrome]], such as [[focal segmental glomerulosclerosis]] ([[FSGS]]) or [[minimal change disease]] (MCD).<ref>{{ | |||
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| doi = 10.1681/ASN.2009040379 | |||
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==Structure== | ==Structure== | ||
Podocin is a membrane protein of the [[Stomatin|band-7-stomatin]] [[Protein family|family]], consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of [[nephrin]], with [[CD2AP]] | Podocin is a membrane protein of the [[Stomatin|band-7-stomatin]] [[Protein family|family]], consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of [[nephrin]], with [[CD2AP]] serving as an adaptor. | ||
<ref name="pmid24464702">{{ | <ref name="pmid24464702">{{cite journal | vauthors = Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P | title = Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach | journal = Interdisciplinary Sciences, Computational Life Sciences | volume = 6 | issue = 1 | pages = 32–9 | date = March 2014 | pmid = 24464702 | doi = 10.1007/s12539-014-0190-4 }}</ref> | ||
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| title = Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach | |||
| journal = Interdisciplinary Sciences, Computational Life Sciences | |||
| volume = 6 | |||
| issue = 1 | |||
| pages = 32–9 | |||
| | |||
| pmid = 24464702 | |||
}}</ref> | |||
==Function== | == Function == | ||
Podocin is localized on the membranes of [[podocyte]] pedicels (foot-like long processes), where it oligomerizes in [[lipid raft]]s together with [[nephrin]] to form the filtration slits.<ref name="pmid24464702" /> | Podocin is localized on the membranes of [[podocyte]] pedicels (foot-like long processes), where it oligomerizes in [[lipid raft]]s together with [[nephrin]] to form the filtration slits.<ref name="pmid24464702" /> | ||
==References== | == References == | ||
{{reflist}} | {{reflist}} | ||
[[Category:Proteins]] | [[Category:Proteins]] | ||
{{Biochemistry-stub}} | {{Biochemistry-stub}} | ||
Latest revision as of 04:42, 10 December 2018
| nephrosis 2, idiopathic, steroid-resistant (podocin) | |
|---|---|
| Identifiers | |
| Symbol | NPHS2 |
| Entrez | 7827 |
| HUGO | 13394 |
| OMIM | 604766 |
| RefSeq | NM_014625 |
| UniProt | Q9NP85 |
| Other data | |
| Locus | Chr. 1 q25-q31 |
Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus.[1] Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD).[2] Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.[3]
Structure
Podocin is a membrane protein of the band-7-stomatin family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor. [4]
Function
Podocin is localized on the membranes of podocyte pedicels (foot-like long processes), where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.[4]
References
- ↑ Jarad G, Miner JH (May 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–32. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.
- ↑ Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL (October 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–9. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.
- ↑ Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL (2016). Pediatric Nephrology. Springer. ISBN 9783662435960. OCLC 1050008865.
- ↑ 4.0 4.1 Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (March 2014). "Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach". Interdisciplinary Sciences, Computational Life Sciences. 6 (1): 32–9. doi:10.1007/s12539-014-0190-4. PMID 24464702.
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