C1QTNF5

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C1q and tumor necrosis factor related protein 5
Identifiers
Symbol(s) C1QTNF5; CTRP5; DKFZp586B0621; LORD
External IDs OMIM: 608752 MGI: 2385958 HomoloGene: 9227
Orthologs
Human Mouse
Entrez 114902 235312


Refseq NM_015645 (mRNA)
NP_056460 (protein)		 NM_001040631 (mRNA)
NP_001035721 (protein)
Pubmed search [1] [2]

C1q and tumor necrosis factor related protein 5, also known as C1QTNF5, is a human gene.[1]

The CTRP5 protein is a member of the C1q (see MIM 120550)/tumor necrosis factor (MIM 191160) superfamily, which shows diverse functions including cell adhesion and basement membrane components (Shapiro and Scherer, 1998). C1QTNF5 is mutant in late-onset retinal degeneration (LORD; MIM 605670).[supplied by OMIM][1]

[edit] References

  1. ^ a b Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5.

[edit] 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. 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. 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. 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. 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. 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. PMID 17249553. 
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