Property Summary

NCBI Gene PubMed Count 30
Grant Count 33
R01 Count 15
Funding $5,215,955.3
PubMed Score 1.14
PubTator Score 37.32

Knowledge Summary

Patent

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TINX Plot

Gene RIF (18)

PMID Text
25010528 Late-onset retinal degeneration, proven to have the p.Ser163Arg mutation in C1QTNF5, and asked whether retina-wide sub-RPE deposit was detectable and quantifiable.
24531000 C1QTNF5 monomers can multimerize into a bouquet-like octadecamer.
23430573 CTRP-5 might be a novel adipokine that circulates abundantly in human sera.
23289492 C1QTNF5 retinopathy is an autosomal dominant LORD resulting in a complex ocular phenotype involving the RPE and ciliary epithelium. SD-OCT findings revealed widespread photoreceptor loss and diffuse choroidal thinning.
22892318 The crystal structure of the trimeric globular domain of human C1QTNF5 at 1.34A resolution reveals unique features of this novel C1q family member.
22632162 Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of C1q and tumor necrosis factor related protein 5 (C1QTNF5) in U-937 macrophages
22277927 Late-onset retinal degeneration is a progressive degeneration, and anterior segment abnormalities present early.
22110650 pathogenic role of C1qtnf5 Ser163Arg mutation
22031510 A physiological function for C1QTNF5 (myonectin) in linking insulin resistance with quantitative changes in mtDNA.
20554618 This study revealed the presence of a functional promoter for the CTRP5 gene located 5' of its start site.
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AA Sequence

MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPGAPGEKGEGGR      1 - 70
PGLPGPRGDPGPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSDAPLPFDRVLVNEQGHYDAVT     71 - 140
GKFTCQVPGVYYFAVHATVYRASLQFDLVKNGESIASFFQFFGGWPKPASLSGGAMVRLEPEDQVWVQVG    141 - 210
VGDYIGIYASIKTDSTFSGFLVYSDWHSSPVFA                                         211 - 243
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Text Mined References (32)

PMID Year Title
25010528 2014 Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.
24531000 2014 The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements.
23430573 2013 Regulation and function of C1Q/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23289492 2013 Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
22892318 2012 Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.
22277927 2012 The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
22261190 2012 CTRP family: linking immunity to metabolism.
22183337 2012 Silencing the expression of CTRP5/C1QTNF5 and ELOVL4 genes by small interfering RNA.
22110650 2011 Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
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