General Information of Drug Off-Target (DOT) (ID: OT24078H)

DOT Name Collagen alpha-1(V) chain (COL5A1)
Synonyms Collagen alpha-1(V) chain
Gene Name COL5A1
Related Disease
Connective tissue disorder ( )
Ehlers-Danlos syndrome, classic type ( )
Advanced cancer ( )
Autoimmune lymphoproliferative syndrome type 2B ( )
Breast cancer ( )
Breast carcinoma ( )
Cardiovascular disease ( )
Carpal tunnel syndrome ( )
Coagulation defect ( )
Dilated cardiomyopathy 1A ( )
Ehlers-Danlos syndrome ( )
Ehlers-Danlos syndrome, classic type, 1 ( )
Ehlers-Danlos syndrome, classic type, 2 ( )
Epithelial ovarian cancer ( )
Gastric cancer ( )
Head-neck squamous cell carcinoma ( )
Hereditary hemorrhagic telangiectasia ( )
Inflammatory breast cancer ( )
Invasive ductal breast carcinoma ( )
Keloid ( )
Keratoconus ( )
Lung adenocarcinoma ( )
Nail-patella syndrome ( )
OPTN-related open angle glaucoma ( )
Osteogenesis imperfecta ( )
Ovarian cancer ( )
Ovarian neoplasm ( )
Prostate cancer ( )
Prostate neoplasm ( )
Stomach cancer ( )
Tuberous sclerosis 1 ( )
Clear cell renal carcinoma ( )
Meningioma ( )
Neoplasm ( )
Tendinopathy ( )
Metastatic malignant neoplasm ( )
Arterial disorder ( )
Bronchiolitis ( )
Carcinoma ( )
Musculoskeletal disorder ( )
Renal cell carcinoma ( )
Undifferentiated carcinoma ( )
UniProt ID
CO5A1_HUMAN
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
PDB ID
7Y37
Pfam ID
PF01410 ; PF01391 ; PF02210
Sequence
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
GPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIKGDRGEIGPPGPRGED
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
GPPGPPGPPGEVIQPLPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG
Function
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
KEGG Pathway
Cytoskeleton in muscle cells (hsa04820 )
Protein digestion and absorption (hsa04974 )
Reactome Pathway
Extracellular matrix organization (R-HSA-1474244 )
Collagen biosynthesis and modifying enzymes (R-HSA-1650814 )
Signaling by PDGF (R-HSA-186797 )
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090 )
Integrin cell surface interactions (R-HSA-216083 )
Syndecan interactions (R-HSA-3000170 )
Non-integrin membrane-ECM interactions (R-HSA-3000171 )
ECM proteoglycans (R-HSA-3000178 )
NCAM1 interactions (R-HSA-419037 )
MET activates PTK2 signaling (R-HSA-8874081 )
Collagen chain trimerization (R-HSA-8948216 )
Collagen degradation (R-HSA-1442490 )

Molecular Interaction Atlas (MIA) of This DOT

42 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Connective tissue disorder DISKXBS3 Definitive Genetic Variation [1]
Ehlers-Danlos syndrome, classic type DISKOTBA Definitive Autosomal dominant [2]
Advanced cancer DISAT1Z9 Strong Biomarker [3]
Autoimmune lymphoproliferative syndrome type 2B DIS7EXGM Strong Biomarker [4]
Breast cancer DIS7DPX1 Strong Altered Expression [3]
Breast carcinoma DIS2UE88 Strong Altered Expression [3]
Cardiovascular disease DIS2IQDX Strong Genetic Variation [5]
Carpal tunnel syndrome DISHQ3BE Strong Genetic Variation [6]
Coagulation defect DIS9X3H6 Strong Biomarker [7]
Dilated cardiomyopathy 1A DIS0RK9Z Strong Biomarker [8]
Ehlers-Danlos syndrome DISSVBRR Strong Genetic Variation [9]
Ehlers-Danlos syndrome, classic type, 1 DIS4BR9L Strong Autosomal dominant [10]
Ehlers-Danlos syndrome, classic type, 2 DISNDKU3 Strong Biomarker [11]
Epithelial ovarian cancer DIS56MH2 Strong Altered Expression [3]
Gastric cancer DISXGOUK Strong Biomarker [12]
Head-neck squamous cell carcinoma DISF7P24 Strong Biomarker [13]
Hereditary hemorrhagic telangiectasia DISXTDNT Strong Biomarker [14]
Inflammatory breast cancer DIS3QRWA Strong Biomarker [15]
Invasive ductal breast carcinoma DIS43J58 Strong Altered Expression [8]
Keloid DISV09JY Strong Biomarker [16]
Keratoconus DISOONXH Strong Genetic Variation [17]
Lung adenocarcinoma DISD51WR Strong Biomarker [18]
Nail-patella syndrome DIS8C4CT Strong Biomarker [14]
OPTN-related open angle glaucoma DISDR98A Strong Biomarker [19]
Osteogenesis imperfecta DIS7XQSD Strong Genetic Variation [9]
Ovarian cancer DISZJHAP Strong Altered Expression [3]
Ovarian neoplasm DISEAFTY Strong Altered Expression [3]
Prostate cancer DISF190Y Strong Biomarker [20]
Prostate neoplasm DISHDKGQ Strong Biomarker [20]
Stomach cancer DISKIJSX Strong Biomarker [12]
Tuberous sclerosis 1 DIS07GDN Strong Biomarker [14]
Clear cell renal carcinoma DISBXRFJ moderate Altered Expression [21]
Meningioma DISPT4TG moderate Altered Expression [22]
Neoplasm DISZKGEW moderate Altered Expression [21]
Tendinopathy DISJH7UX moderate Genetic Variation [23]
Metastatic malignant neoplasm DIS86UK6 Disputed Altered Expression [24]
Arterial disorder DISLG4XS Limited Autosomal dominant [25]
Bronchiolitis DISEE9BG Limited Biomarker [26]
Carcinoma DISH9F1N Limited Biomarker [27]
Musculoskeletal disorder DISPPN0O Limited Genetic Variation [28]
Renal cell carcinoma DISQZ2X8 Limited Altered Expression [29]
Undifferentiated carcinoma DISIAZST Limited Biomarker [27]
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⏷ Show the Full List of 42 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
24 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate decreases the expression of Collagen alpha-1(V) chain (COL5A1). [30]
Ciclosporin DMAZJFX Approved Ciclosporin decreases the expression of Collagen alpha-1(V) chain (COL5A1). [31]
Tretinoin DM49DUI Approved Tretinoin decreases the expression of Collagen alpha-1(V) chain (COL5A1). [32]
Acetaminophen DMUIE76 Approved Acetaminophen increases the expression of Collagen alpha-1(V) chain (COL5A1). [33]
Doxorubicin DMVP5YE Approved Doxorubicin decreases the expression of Collagen alpha-1(V) chain (COL5A1). [34]
Cisplatin DMRHGI9 Approved Cisplatin decreases the expression of Collagen alpha-1(V) chain (COL5A1). [35]
Estradiol DMUNTE3 Approved Estradiol decreases the expression of Collagen alpha-1(V) chain (COL5A1). [36]
Triclosan DMZUR4N Approved Triclosan decreases the expression of Collagen alpha-1(V) chain (COL5A1). [31]
Zoledronate DMIXC7G Approved Zoledronate increases the expression of Collagen alpha-1(V) chain (COL5A1). [38]
Dexamethasone DMMWZET Approved Dexamethasone decreases the expression of Collagen alpha-1(V) chain (COL5A1). [39]
Isotretinoin DM4QTBN Approved Isotretinoin increases the expression of Collagen alpha-1(V) chain (COL5A1). [40]
Cytarabine DMZD5QR Approved Cytarabine decreases the expression of Collagen alpha-1(V) chain (COL5A1). [41]
Testosterone enanthate DMB6871 Approved Testosterone enanthate affects the expression of Collagen alpha-1(V) chain (COL5A1). [42]
Amphotericin B DMTAJQE Approved Amphotericin B increases the expression of Collagen alpha-1(V) chain (COL5A1). [43]
Ethinyl estradiol DMODJ40 Approved Ethinyl estradiol increases the expression of Collagen alpha-1(V) chain (COL5A1). [44]
Sodium phenylbutyrate DMXLBCQ Approved Sodium phenylbutyrate increases the expression of Collagen alpha-1(V) chain (COL5A1). [45]
SNDX-275 DMH7W9X Phase 3 SNDX-275 increases the expression of Collagen alpha-1(V) chain (COL5A1). [46]
Resveratrol DM3RWXL Phase 3 Resveratrol decreases the expression of Collagen alpha-1(V) chain (COL5A1). [36]
(+)-JQ1 DM1CZSJ Phase 1 (+)-JQ1 decreases the expression of Collagen alpha-1(V) chain (COL5A1). [48]
THAPSIGARGIN DMDMQIE Preclinical THAPSIGARGIN decreases the expression of Collagen alpha-1(V) chain (COL5A1). [49]
Trichostatin A DM9C8NX Investigative Trichostatin A increases the expression of Collagen alpha-1(V) chain (COL5A1). [51]
Paraquat DMR8O3X Investigative Paraquat affects the expression of Collagen alpha-1(V) chain (COL5A1). [31]
I-BET151 DMYRUH2 Investigative I-BET151 decreases the expression of Collagen alpha-1(V) chain (COL5A1). [48]
PFI-1 DMVFK3J Investigative PFI-1 decreases the expression of Collagen alpha-1(V) chain (COL5A1). [48]
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⏷ Show the Full List of 24 Drug(s)
4 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Arsenic DMTL2Y1 Approved Arsenic affects the methylation of Collagen alpha-1(V) chain (COL5A1). [37]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene affects the methylation of Collagen alpha-1(V) chain (COL5A1). [47]
Bisphenol A DM2ZLD7 Investigative Bisphenol A decreases the methylation of Collagen alpha-1(V) chain (COL5A1). [50]
Sulforaphane DMQY3L0 Investigative Sulforaphane increases the methylation of Collagen alpha-1(V) chain (COL5A1). [52]
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1 Drug(s) Affected the Protein Interaction/Cellular Processes of This DOT
Drug Name Drug ID Highest Status Interaction REF
D-glucose DMMG2TO Investigative D-glucose affects the secretion of Collagen alpha-1(V) chain (COL5A1). [53]
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References

1 Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?.Hum Genet. 1993 Mar;91(2):175-7. doi: 10.1007/BF00222720.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Prospective molecular mechanism of COL5A1 in breast cancer based on a microarray, RNA sequencing and immunohistochemistry.Oncol Rep. 2019 Jul;42(1):151-175. doi: 10.3892/or.2019.7147. Epub 2019 May 3.
4 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Am J Hum Genet. 1997 Mar;60(3):547-54.
5 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.Nat Commun. 2019 Sep 24;10(1):4329. doi: 10.1038/s41467-019-11954-8.
6 The COL5A1 gene is associated with increased risk of carpal tunnel syndrome.Clin Rheumatol. 2015 Apr;34(4):767-74. doi: 10.1007/s10067-014-2727-7. Epub 2014 Jun 26.
7 Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.
8 Overexpression of collagen type V 1 chain in human breast invasive ductal carcinoma is mediated by TGF-1.Int J Oncol. 2018 May;52(5):1694-1704. doi: 10.3892/ijo.2018.4317. Epub 2018 Mar 15.
9 Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.Biosci Rep. 2019 Jul 25;39(7):BSR20181409. doi: 10.1042/BSR20181409. Print 2019 Jul 31.
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11 A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.Am J Hum Genet. 1998 Aug;63(2):390-8. doi: 10.1086/301948.
12 Discovery of signature genes in gastric cancer associated with prognosis.Neoplasma. 2016;63(2):239-45. doi: 10.4149/209_150531N303.
13 Subpath analysis of each subtype of head and neck cancer based on the regulatory relationship between miRNAs and biological pathways.Oncol Rep. 2015 Oct;34(4):1745-54. doi: 10.3892/or.2015.4150. Epub 2015 Jul 24.
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15 Systematically identify key genes in inflammatory and non-inflammatory breast cancer.Gene. 2016 Jan 10;575(2 Pt 3):600-14. doi: 10.1016/j.gene.2015.09.025. Epub 2015 Sep 25.
16 Comparative proteomic analysis between normal skin and keloid scar.Br J Dermatol. 2010 Jun;162(6):1302-15. doi: 10.1111/j.1365-2133.2010.09660.x. Epub 2010 Feb 1.
17 Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population.Ophthalmic Genet. 2015 Jun;36(2):132-6. doi: 10.3109/13816810.2015.1005317. Epub 2015 Feb 12.
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19 Identification of genes associated with primary open-angle glaucoma by bioinformatics approach.Int Ophthalmol. 2018 Feb;38(1):19-28. doi: 10.1007/s10792-017-0704-2. Epub 2017 Sep 11.
20 The long tail of oncogenic drivers in prostate cancer.Nat Genet. 2018 May;50(5):645-651. doi: 10.1038/s41588-018-0078-z. Epub 2018 Apr 2.
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22 miRNA-145 is downregulated in atypical and anaplastic meningiomas and negatively regulates motility and proliferation of meningioma cells.Oncogene. 2013 Sep 26;32(39):4712-20. doi: 10.1038/onc.2012.468. Epub 2012 Oct 29.
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24 Cancer-associated stroma significantly contributes to the mesenchymal subtype signature of serous ovarian cancer.Gynecol Oncol. 2019 Feb;152(2):368-374. doi: 10.1016/j.ygyno.2018.11.014. Epub 2018 Nov 15.
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