C1QTNF5
C1q and tumor necrosis factor related protein 5, also known as C1QTNF5, is a protein which in humans is encoded by the C1QTNF5 gene.[3][4]
Function
The CTRP5 protein is a member of the C1q / tumor necrosis factor superfamily, which shows diverse functions including cell adhesion and as components of the basement membrane.[5] C1QTNF5 is mutant in late-onset retinal degeneration.[3]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5".
- ↑ Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF (October 2003). "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration". Hum. Mol. Genet. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
- ↑ Shapiro L, Scherer PE (March 1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor". Curr. Biol. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
Further reading
- Shapiro L, Scherer PE (1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor.". Curr. Biol. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241
. PMID 12477932.
- Hayward C, Shu X, Cideciyan AV, et al. (2004). "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.". Hum. Mol. Genet. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites.". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ayyagari R, Mandal MN, Karoukis AJ, et al. (2005). "Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.". Invest. Ophthalmol. Vis. Sci. 46 (9): 3363–71. doi:10.1167/iovs.05-0159. PMID 16123441.
- Subrayan V, Morris B, Armbrecht AM, et al. (2006). "Long anterior lens zonules in late-onset retinal degeneration (L-ORD).". Am. J. Ophthalmol. 140 (6): 1127–9. doi:10.1016/j.ajo.2005.06.023. PMID 16376663.
- Foster LJ, Rudich A, Talior I, et al. (2006). "Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC).". J. Proteome Res. 5 (1): 64–75. doi:10.1021/pr0502626. PMID 16396496.
- Shu X, Tulloch B, Lennon A, et al. (2006). "Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.". Hum. Mol. Genet. 15 (10): 1680–9. doi:10.1093/hmg/ddl091. PMID 16600989.
- Shu X, Tulloch B, Lennon A, et al. (2007). "Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration.". Adv. Exp. Med. Biol. 572: 41–8. doi:10.1007/0-387-32442-9_7. PMID 17249553.