C1QTNF5

C1QTNF5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesC1QTNF5, CTRP5, C1q and tumor necrosis factor related protein 5, C1q and TNF related 5
External IDsMGI: 2385958 HomoloGene: 9227 GeneCards: C1QTNF5
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q23.3Start119,338,939 bp[1]
End119,340,940 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

114902

235312

Ensembl

ENSG00000223953

ENSMUSG00000079592

UniProt

Q9BXJ0

Q8K480
Q8K479

RefSeq (mRNA)

NM_015645
NM_001278431

NM_001040631
NM_001040632
NM_001190313
NM_001190319
NM_145613

RefSeq (protein)

NP_001265360
NP_056460

Location (UCSC)Chr 11: 119.34 – 119.34 MbChr 9: 44.11 – 44.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

C1q and tumor necrosis factor related protein 5, also known as C1QTNF5, is a protein which in humans is encoded by the C1QTNF5 gene.[5][6]

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.[7]

Clinical significance

A mutation in the C1QTNF5 gene causes late-onset retinal degeneration.[5] More specifically, a single missense mutation (S163R) in the encoded C1QTNF5 protein causes the Late-onset retinal degeneration disease(L-ORD).[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000223953 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079592 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5".
  6. ↑ 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". Human Molecular Genetics. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
  7. ↑ Shapiro L, Scherer PE (March 1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor". Current Biology. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
  8. ↑ Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C (September 2017). "Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration". Scientific Reports. 7 (1): 12147. doi:10.1038/s41598-017-11898-3. PMC 5610255. PMID 28939808.

Further reading

  • Shapiro L, Scherer PE (March 1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor". Current Biology. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
  • 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". Human Molecular Genetics. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
  • Zhang Z, Henzel WJ (October 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
  • Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA (September 2005). "Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation". Investigative Ophthalmology & Visual Science. 46 (9): 3363–71. doi:10.1167/iovs.05-0159. PMID 16123441.
  • Subrayan V, Morris B, Armbrecht AM, Wright AF, Dhillon B (December 2005). "Long anterior lens zonules in late-onset retinal degeneration (L-ORD)". American Journal of Ophthalmology. 140 (6): 1127–9. doi:10.1016/j.ajo.2005.06.023. PMID 16376663.
  • Foster LJ, Rudich A, Talior I, Patel N, Huang X, Furtado LM, Bilan PJ, Mann M, Klip A (January 2006). "Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC)". Journal of Proteome Research. 5 (1): 64–75. doi:10.1021/pr0502626. PMID 16396496.
  • Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF (May 2006). "Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5". Human Molecular Genetics. 15 (10): 1680–9. doi:10.1093/hmg/ddl091. PMID 16600989.
  • Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, Cideciyan AV, Jacobson SG, Wright AF (2007). "Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration". Advances in Experimental Medicine and Biology. 572: 41–8. doi:10.1007/0-387-32442-9_7. PMID 17249553.


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