Recombinant Human Collagen alpha-1 (IV) chain (COL4A1), partial

1. USP8 deubiquitinates Sec31A and inhibits the formation of large COPII carriers, thereby suppressing collagen IV secretion. PMID: 29604273
2. It seems that CD14 gene polymorphism might be associated with the risk of CAD, whereas COL4A1 gene polymorphism was not found to confer any risk of CAD PMID: 29299748
3. these data indicated that COL4A1 may confer trastuzumab resistance in gastric cancer. PMID: 29512712
4. VIPAR, with its partner proteins, regulate sorting of lysyl hydroxylase 3 (LH3, also known as PLOD3) into newly identified post-Golgi collagen IV carriers PMID: 27435297
5. Our study showed that the rs544012 AC and rs679505 AA genotypes were independently associated with the risk of ICH in the Chinese Han population and that the AA haplotype (rs3742207-rs11069830) in the COL4A1 gene may be related to the risk of ICH in the Chinese Han population PMID: 29360590
6. The rs532625 AA genotype in the COL4A1 gene was independently associated with the risk of disability and death in a Chinese Han population following intracerebral hemorrhage. PMID: 29477007
7. this study shows that COL4A1 production by urothelial carcinoma of the bladder plays a pivotal role in tumor invasion through the induction of tumor budding PMID: 28415608
8. Genotype-phenotype correlations in pathology caused by COL4A1 and COL4A2 mutations have been summarized. (Review) PMID: 27794444
9. Urine levels of COL4A1, COL13A1, the combined values of COL4A1 and COL13A1 (COL4A1 + COL13A1), and CYFRA21-1 were significantly elevated in urine from patients with BCa compared to the controls. A high urinary COL4A1 + COL13A1 was found to be an independent risk factor for intravesical recurrence. PMID: 28837258
10. Building collagen IV smart scaffolds on the outside of cells has been summarized. (Review) PMID: 28845540
11. Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the alpha1 chain of type IV collagen is important in the integrity of glomerular basement membrane in humans. PMID: 27190376
12. Twist1 appears to require both palladin and collagen alpha1(VI) as downstream effectors for its prometastatic effects, which could be future therapeutic targets in cancer metastasis. PMID: 26973246
13. only collagen-IV elicits the formation of proteolytically active podosomes through a mechanism involving increased Src phosphorylation, p190RhoGAP-B (also known as ARHGAP5) relocalisation and MT1-MMP (also known as MMP14) cell surface exposure at podosome sites. PMID: 27231093
14. Mutations upregulating COL4A1 expression lead topontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL). PMID: 27666438
15. The study shows an association of the COL4A1 gene with cerebral palsy and suggests a potential role of COL4A1 in the pathogenesis of this disease. PMID: 26748532
16. Differential protein expression of collagen IV, laminin alpha2, and nidogen-1 indicated basal lamina remodeling develops in ischemic failing versus nonfailing human hearts. PMID: 26756417
17. COL4A1 expression is significantly upregulated in human masticatory mucosa during wound healing. PMID: 28005267
18. pulmonary complications should be considered in patients with COL4A1 mutation-related disorders. PMID: 28017902
19. Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val]). PMID: 26879631
20. In porencephaly subjects with COL4A1 mutation, we did not detect significant alterations of immunofluorescence patterns in basal membranes of different skin structures. Heterozygous COL4A1 G749S mutation is associated with a normal immunofluorescence pattern of skin basement membranes. PMID: 26686511
21. High serum Collagen Type IV is associated with ovarian and breast cancer. PMID: 26406420
22. Hydroxylation and O-linked glycosylation sites in col4a1 from human lens capsule. PMID: 26593852
23. plasma levels increased in second and third trimester pre-eclampsia PMID: 26343951
24. SMAD3 is a necessary factor for TGFbeta-mediated stimulation of mRNA and protein expression of type IV collagen genes in human vascular smooth muscle cells; it regulates expression of COL4a1 and COL4a2 PMID: 26310581
25. COLIV is a promising tumour marker for CLM and can possibly be used to detect postoperative CLM recurrence. The combination of COLIV and CEA is superior to either marker alone in detecting CLM PMID: 26162539
26. analysis of the unique AAB composition and chain register for a heterotrimeric type IV collagen model peptide COL4a1/COL4a2 containing a natural interruption site PMID: 26209635
27. The catalytic domain of peroxidasin and its immunoglobulin (Ig) domains are required for efficient sulfilimine bond formation. PMID: 26178375
28. Studied the role of alpha1 and alpha2 chains of type IV collagen in UIP; found type IV collagen deposition in early fibrotic lesions of UIP may be implicated in refractory pathophysiology including migration of lesion fibroblasts via a FAK pathway. PMID: 26006016
29. The expression of collagen type IV and its alpha chains (alpha1-6) was investigated in different endothelial cell culture systems in vitro qualitatively and quantitatively. PMID: 23551189
30. Silencing the Col4-alpha1 gene or disrupting integrin engagement by blocking the antibody reduced the expression of platelet-derived growth factor A (PDGF-A), a potent chemotactic factor for fibroblasts. PMID: 25686533
31. A girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1, are reported. PMID: 25425218
32. This study expands the spectrum of COL4A1 phenotypes and indicates screening in patients with anophthalmia/microphthalmia regardless of MRI findings or presumed inheritance pattern. PMID: 24628545
33. Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126. PMID: 25118328
34. The molecular basis of familial retinal arteriolar tortuosity was identified for the first time, thus expanding the human phenotypes linked to COL4A1 mutations. PMID: 25228067
35. Examined association between COL4A1 SNPs and intracranial aneurysms in Japanese cohort. PMID: 19506372
36. p53 directly activated transcription of the COL4A1 gene by binding to an enhancer region 26 kb downstream of its 3' end and increased the release of Arresten in the extracellular matrix. PMID: 22253229
37. Haploinsufficiency for COL4A1, rather than a dominant-negative effect of mutations, may cause intracerebral hemorrhage and white matter disease. PMID: 23065703
38. The novel mutation (c.2345 G > C) of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the important role of type IV collagen in the physiological and optical properties of the lens. PMID: 25124159
39. The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in fetal intraventricular hemorrhage PMID: 24317722
40. carbohydrate moiety (alpha-Gal) on laminin gamma-1 and collagen alpha-1 (VI) chain are possibly common IgE-reactive proteins in the Japanese patients with beef allergy PMID: 24180678
41. the integrin signaling pathway activated in a tumor environment with collagen deposition is responsible for low cell elasticity and high metastatic ability. PMID: 24823860
42. Both rs605143 and rs565470 of COL4A1gene are associated with coronary artery disease in the Uygur population of China. PMID: 24156251
43. Data indicate that the aberrantly methylated and expressed genes in cancer process including IRS1 and collagen-related genes COL4A1, COL4A2 and COL6A3. PMID: 23818951
44. In families where anterior segment dysgenesis occurs together with cerebral hemorrhages, genetic analysis of COL4A1 should be considered. PMID: 23394911
45. These data suggest novel roles for arresten in the regulation of oral squamous carcinoma cell proliferation, survival, motility and invasion through the modulation of cell differentiation state and integrin signaling. PMID: 23227231
46. Studies indicate that progenitor endothelial cells (ECs), endothelial colony-forming cells (ECFCs), deposit collagen IV, fibronectin, and laminin. PMID: 22919069
47. COL4A1 mutations have been identified in adult patients with cerebral small vessel diseases. PMID: 22868088
48. COL4A1 mutations are associated with schizencephaly and hemolytic anemia; genetic testing for COL4A1 should be considered for children with these conditions. PMID: 23225343
49. This study demonistrated that patients with COL4A1 mutations raised creatine kinase and cerebral calcification. PMID: 22932948
50. The data suggested that miR-21 is involved in the regulation of the synthesis of COL4A1, a component of the basement membrane surrounding the GC layer and granulosa-embedded extracellular structure. PMID: 22573493

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HGNC: 2202

OMIM: 120130

KEGG: hsa:1282

STRING: 9606.ENSP00000364979

UniGene: Hs.17441