Biology:INVS
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Inversin is a protein that in humans is encoded by the INVS gene.[1][2]
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]
Interactions
INVS has been shown to interact with NPHP1.[1]
References
- ↑ 1.0 1.1 "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nat Genet 34 (4): 413–20. Aug 2003. doi:10.1038/ng1217. PMID 12872123.
- ↑ 2.0 2.1 "Entrez Gene: INVS inversin". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27130.
Further reading
- "Reversal of left-right asymmetry: a situs inversus mutation.". Science 260 (5108): 679–82. 1993. doi:10.1126/science.8480178. PMID 8480178. Bibcode: 1993Sci...260..679Y.
- "A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping". Am. J. Hum. Genet. 63 (5): 1404–10. 1998. doi:10.1086/302108. PMID 9792867.
- "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". Hum. Genet. 110 (2): 157–65. 2002. doi:10.1007/s00439-001-0655-5. PMID 11935322.
- "The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin". Hum. Genet. 110 (4): 377–84. 2002. doi:10.1007/s00439-002-0696-4. PMID 11941489.
- "Inversin Forms a Complex with Catenins and N-Cadherin in Polarized Epithelial Cells". Mol. Biol. Cell 13 (9): 3096–106. 2003. doi:10.1091/mbc.E02-04-0195. PMID 12221118.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "DNA sequence and analysis of human chromosome 9". Nature 429 (6990): 369–74. 2004. doi:10.1038/nature02465. PMID 15164053. Bibcode: 2004Natur.429..369H.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin". Nat. Genet. 37 (3): 282–8. 2005. doi:10.1038/ng1520. PMID 15723066.
- "Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways". Nat. Genet. 37 (5): 537–43. 2005. doi:10.1038/ng1552. PMID 15852005.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Retinitis pigmentosa and renal failure in a patient with mutations in INVS". Nephrol. Dial. Transplant. 21 (7): 1989–91. 2007. doi:10.1093/ndt/gfl088. PMID 16522655.
- "Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans". Am. J. Hum. Genet. 78 (5): 878–83. 2006. doi:10.1086/503632. PMID 16642442.
- Assadi F (2007). "Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease". Pediatr. Nephrol. 22 (5): 750–2. doi:10.1007/s00467-006-0412-z. PMID 17216245.
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