| 释义 |
- Interactions
- References
- Further reading
{{Infobox_gene}}Inversin is a protein that in humans is encoded by the INVS gene.[1][2]{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Two transcript variants encoding distinct isoforms have been identified for this gene.[2]
}}InteractionsINVS has been shown to interact with NPHP1.[1] References1. ^1 {{cite journal |vauthors=Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F | title = Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | journal = Nat Genet | volume = 34 | issue = 4 | pages = 413–20 |date=Aug 2003 | pmid = 12872123 | pmc = 3732175| doi = 10.1038/ng1217 }}
2. ^1 {{cite web | title = Entrez Gene: INVS inversin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27130| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Yokoyama T, Copeland NG, Jenkins NA, etal |title=Reversal of left-right asymmetry: a situs inversus mutation. |journal=Science |volume=260 |issue= 5108 |pages= 679–82 |year= 1993 |pmid= 8480178 |doi=10.1126/science.8480178 }}
- {{cite journal |vauthors=Haider NB, Carmi R, Shalev H, etal |title=A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping |journal=Am. J. Hum. Genet. |volume=63 |issue= 5 |pages= 1404–10 |year= 1998 |pmid= 9792867 |doi=10.1086/302108 | pmc=1377550 }}
- {{cite journal |vauthors=Schön P, Tsuchiya K, Lenoir D, etal |title=Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia |journal=Hum. Genet. |volume=110 |issue= 2 |pages= 157–65 |year= 2002 |pmid= 11935322 |doi= 10.1007/s00439-001-0655-5 }}
- {{cite journal |vauthors=Morgan D, Goodship J, Essner JJ, etal |title=The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin |journal=Hum. Genet. |volume=110 |issue= 4 |pages= 377–84 |year= 2002 |pmid= 11941489 |doi= 10.1007/s00439-002-0696-4 }}
- {{cite journal |vauthors=Nürnberger J, Bacallao RL, Phillips CL |title=Inversin Forms a Complex with Catenins and N-Cadherin in Polarized Epithelial Cells |journal=Mol. Biol. Cell |volume=13 |issue= 9 |pages= 3096–106 |year= 2003 |pmid= 12221118 |doi= 10.1091/mbc.E02-04-0195 | pmc=124145 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Humphray SJ, Oliver K, Hunt AR, etal |title=DNA sequence and analysis of human chromosome 9 |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 | pmc=2734081 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Otto EA, Loeys B, Khanna H, etal |title=Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin |journal=Nat. Genet. |volume=37 |issue= 3 |pages= 282–8 |year= 2005 |pmid= 15723066 |doi= 10.1038/ng1520 }}
- {{cite journal |vauthors=Simons M, Gloy J, Ganner A, etal |title=Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways |journal=Nat. Genet. |volume=37 |issue= 5 |pages= 537–43 |year= 2005 |pmid= 15852005 |doi= 10.1038/ng1552 |pmc=3733333 }}
- {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
- {{cite journal |vauthors=O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F |title=Retinitis pigmentosa and renal failure in a patient with mutations in INVS |journal=Nephrol. Dial. Transplant. |volume=21 |issue= 7 |pages= 1989–91 |year= 2007 |pmid= 16522655 |doi= 10.1093/ndt/gfl088 }}
- {{cite journal |vauthors=Gilling M, Dullinger JS, Gesk S, etal |title=Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans |journal=Am. J. Hum. Genet. |volume=78 |issue= 5 |pages= 878–83 |year= 2006 |pmid= 16642442 |doi= 10.1086/503632 | pmc=1474032 }}
- {{cite journal | author=Assadi F |title=Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease |journal=Pediatr. Nephrol. |volume=22 |issue= 5 |pages= 750–2 |year= 2007 |pmid= 17216245 |doi= 10.1007/s00467-006-0412-z }}
{{refend}}{{Ciliary proteins}}{{gene-9-stub}} |