Property Summary

NCBI Gene PubMed Count 114
Grant Count 18
R01 Count 9
Funding $1,895,234.32
PubMed Score 102.62
PubTator Score 161.14

Knowledge Summary

Patent

No data available

Expression

Gene RIF (66)

PMID Text
26721885 Data (including data from studies in knockout mice) suggest causative role for collagen(V)alpha1 hypersensitivity/autoimmunity in pathogenesis of atherosclerosis; both immune tolerance and reduction of plaque burden are dependent on interleukin 35.
25896984 Individuals with the BstUI A1 allele and DpnII B2 allele of the COL5A1 gene have a high likelihood of developing symptoms of the tennis elbow
25845371 Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 is described in a mother and her two sons, who all died at an early age from arterial ruptures.
25449434 High Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma.
25188268 Running economy, the energy cost or oxygen uptake for a given submaximal running speed, was not associated with variants within the COL5A1gene.
25132375 found down-regulation of COL5A1 in osteo-induced cultures at days 21 and 28, when the mineralized matrix accumulates
25122555 COL5A1 mutations led to structural tendon pathology and low tendon stiffness in classic Ehlers-Danlos syndrome
25073002 In conclusion, the novel main finding of this study was a significant interaction between the COL5A1 rs12722 T/C and COL12A1 rs970547 A/G variants and risk of anterior cruciate ligament injury.
24966028 variants within the functional COL5A1 3'-untranslated region are associated with idiopathic carpal tunnel syndrome
24643429 Tendon properties do not seem to be influenced by the COL5A1 rs12722 gene variant.
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AA Sequence

MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTGFCATRRSSKG      1 - 70
PDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLY     71 - 140
EDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLILDCKKKTTKFLDRSDHPMIDINGIIVFGTR    141 - 210
ILDEEVFEGDIQQLLFVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYY    211 - 280
EDPEDLGKEPTPSKKPVEAAKETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPS    281 - 350
PYDDLTYGEGEENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY    351 - 420
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTG    421 - 490
QVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVSAQESQAQAILQQARLALRGP    491 - 560
AGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPPGPAGKPGRRGRAGSDGARGMPGQTGPKGDR    561 - 630
GFDGLAGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTG    631 - 700
MDGQPGPKGNVGPQGEPGPPGQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGP    701 - 770
PGEKGGQGPPGPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED    771 - 840
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGRGTPGKPGPRG    841 - 910
QRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFPGPKGPPGPPGKDGLPGHPGQ    911 - 980
RGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPPGPPGEQGLPGLAGKEGTKGDPGPAGLPGKD    981 - 1050
GPPGLRGFPGDRGLPGPVGALGLKGNEGPPGPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKG   1051 - 1120
APGEKGPQGPAGRDGLQGPVGLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQ   1121 - 1190
PGPSGADGEPGPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS   1191 - 1260
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAAGPPGPKGPPG   1261 - 1330
DDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPTGEPGPSGPPGKRGPPGPAGP   1331 - 1400
EGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLRGIPGPVGEQGLPGSPGPDGPPGPMGPPGLP   1401 - 1470
GLKGDSGPKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPG   1471 - 1540
PKGAKGSSGPTGPKGEAGHPGPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEE   1541 - 1610
IFGSLNSLKLEIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC   1611 - 1680
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQNVTYHCYQSV   1681 - 1750
AWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVLEIDTPKVEQVPIVDIMFNDF   1751 - 1820
GEASQKFGFEVGPACFMG                                                       1821 - 1838
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Text Mined References (118)

PMID Year Title
26910848 2016 Type V Collagen in Health, Disease, and Fibrosis.
26721885 2016 Mucosal Administration of Collagen V Ameliorates the Atherosclerotic Plaque Burden by Inducing Interleukin 35-dependent Tolerance.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
25896984 2015 The BstUI and DpnII Variants of the COL5A1 Gene Are Associated With Tennis Elbow.
25845371 2015 Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
25449434 2015 Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma.
25188268 2014 Is the COL5A1 rs12722 gene polymorphism associated with running economy?
25132375 2014 Type V collagen counteracts osteo-differentiation of human mesenchymal stem cells.
25122555 2014 Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.
25073002 2015 Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.
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