Property Summary

NCBI Gene PubMed Count 82
PubMed Score 711.87
PubTator Score 85.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Ullrich congenital muscular dystrophy 7 0.0 5.0

Expression

  Differential Expression (32)

Disease log2 FC p
interstitial lung disease 1.200 2.7e-02
astrocytoma 2.300 1.5e-03
ependymoma 3.000 6.0e-03
oligodendroglioma 1.400 1.9e-03
psoriasis -1.100 5.6e-04
glioblastoma 3.300 1.7e-05
osteosarcoma 2.898 5.3e-04
medulloblastoma 2.200 3.2e-04
atypical teratoid / rhabdoid tumor 2.500 1.3e-06
medulloblastoma, large-cell 1.800 1.4e-04
primitive neuroectodermal tumor 1.400 7.1e-03
Duchenne muscular dystrophy 1.671 4.1e-09
autosomal dominant Emery-Dreifuss muscul... 1.140 1.6e-02
Becker muscular dystrophy 1.264 1.1e-03
juvenile dermatomyositis 1.185 1.2e-08
limb girdle muscular dystrophy 2A 1.339 1.0e-05
primary pancreatic ductal adenocarcinoma 1.874 1.6e-03
intraductal papillary-mucinous adenoma (... -2.600 1.1e-05
intraductal papillary-mucinous carcinoma... -2.600 1.6e-04
intraductal papillary-mucinous neoplasm ... -1.900 1.1e-02
lung cancer -1.400 4.6e-03
diabetes mellitus -1.200 1.8e-02
pediatric high grade glioma 2.400 7.9e-05
pilocytic astrocytoma 1.400 2.5e-03
Polycystic Ovary Syndrome -1.882 4.0e-02
gastric carcinoma 1.300 1.9e-02
invasive ductal carcinoma -1.200 3.6e-03
ulcerative colitis 2.300 2.5e-05
ovarian cancer -2.500 6.1e-08
Gaucher disease type 1 -2.200 1.8e-02
pancreatic cancer 1.800 6.6e-04
dermatomyositis -1.300 9.4e-03

 MGI Phenotype (1)

Gene RIF (47)

PMID Text
26447986 Type VI collagen and activated retinal Muller cells are present in iERM.
26317545 COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma
25978941 is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation
25925694 upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation
25535305 worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping
25325876 Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma.
25204870 Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.
25176343 Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed.
25073002 The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort.
24801232 In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients.
24737472 These results suggest that these SNPs of BMP-2 and COL6A1 may not directly influence the expression of OPLL.
24443028 Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review)
24357721 Absence of ANXA2 leads to retention of COL6 in a late-Golgi, VAMP2-positive compartment.
24271325 The resulting proposed clinical classification system of collagen VI-related myopathy is unique in that it is based on the integration of both motor function and pulmonary function criteria.
23221806 XPD mutations in trichothiodystrophy hamper COL6A1 expression.
23013106 COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547 were not significantly associated with sit-and-reach, straight leg raise or total shoulder rotation range of motion
22583932 TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC.
22012643 the COL6A1 rs35796750 TT genotype is associated with increased performance during the bicycling of the South African Ironman triathlon
21037586 the accumulation of abnormal mitochondria and sarcoplasmic reticulum is caused by a defect of autophagy and that restoration of a proper autophagic flux in Col6a1-/- muscles ameliorates these alterations.
20976770 This study revealed several genotype-phenotype correlations, providing new insights into the natural history and course of ColVI myopathies.
20721706 Observational study of gene-disease association. (HuGE Navigator)
19309692 Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified.
19204726 Observational study of gene-disease association. (HuGE Navigator)
18825676 These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality.
18634150 SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis.
18634150 Observational study of gene-disease association. (HuGE Navigator)
18551403 Results found COL6A1 to be differentially expressed in human astrocytomas.
18378883 Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner.
18366090 Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.
18246005 Observational study of gene-disease association. (HuGE Navigator)
18246005 COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population.
17602442 This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses.
17537636 This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay.
17334655 Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone.
16434404 beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin
16227896 Observational study of gene-disease association. (HuGE Navigator)
16227896 COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament.
16130093 we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype.
15563506 dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).
14981181 The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease.
12958705 linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament
12840783 a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy
12736748 Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained.
12374585 Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene.
12011280 Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded
11973338 keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI.
11932968 COL6 genes encoding type VI collagen

AA Sequence

MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFI      1 - 70
DNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQL     71 - 140
LVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYR    141 - 210
RNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEK    211 - 280
GEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPG    281 - 350
FDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA    351 - 420
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGDEGPPGSEGAR    421 - 490
GAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNN    491 - 560
DIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQN    561 - 630
FEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGG    631 - 700
TFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLN    701 - 770
VISCQGLAPSQGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV    771 - 840
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFI    841 - 910
NDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGRQVNE    911 - 980
PHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG                          981 - 1028
//

Text Mined References (87)

PMID Year Title
26447986 2015 Immunohistochemical Evaluation of Idiopathic Epiretinal Membranes and In Vitro Studies on the Effect of TGF-? on Müller Cells.
26317545 2015 Upregulation of COL6A1 is predictive of poor prognosis in clear cell renal cell carcinoma patients.
25978941 2015 Paternal germline mosaicism in collagen VI related myopathies.
25925694 2015 Collagen VI Is Upregulated in COPD and Serves Both as an Adhesive Target and a Bactericidal Barrier for Moraxella catarrhalis.
25535305 2015 Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
25325876 2014 Accessibilome of human glioblastoma: collagen-VI-alpha-1 is a new target and a marker of poor outcome.
25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
25176343 2014 Overexpression of type VI collagen in neoplastic lung tissues.
25073002 2015 Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.
24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
24737472 2014 Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members.
24443028 2014 Collagen type VI myopathies.
24357721 2014 Annexin A2 mediates secretion of collagen VI, pulmonary elasticity and apoptosis of bronchial epithelial cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24271325 2013 Natural history of pulmonary function in collagen VI-related myopathies.
23869615 2013 The expanded collagen VI family: new chains and new questions.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23221806 2013 XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
23013106 2013 No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion.
22905912 2012 Resveratrol-induced changes of the human adipocyte secretion profile.
22583932 2012 Identification of the up-regulation of TP-alpha, collagen alpha-1(VI) chain, and S100A9 in esophageal squamous cell carcinoma by a proteomic method.
22261194 2012 Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury.
22012643 2011 COL6A1 gene and Ironman triathlon performance.
21269460 2011 Initial characterization of the human central proteome.
21037586 2010 Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.
20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.
20721706 2010 RUNX2 polymorphisms associated with OPLL and OLF in the Han population.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
19309692 2009 Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18825676 2008 Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
18634150 2008 Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis.
18551403 2008 Identification of COL6A1 as a differentially expressed gene in human astrocytomas.
18400749 2008 Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI).
18378883 2008 A refined diagnostic algorithm for Bethlem myopathy.
18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
18246005 2007 COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament.
17897319 2007 Integral and associated lysosomal membrane proteins.
17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
17602442 2007 Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21.
17537636 2007 Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
17334655 2007 Faithful tissue-specific expression of the human chromosome 21-linked COL6A1 gene in BAC-transgenic mice.
16434404 2006 Beta ig-h3 interacts directly with biglycan and decorin, promotes collagen VI aggregation, and participates in ternary complexing with these macromolecules.
16227896 2005 COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese.
16210410 2005 Differential expression profiling of membrane proteins by quantitative proteomics in a human mesenchymal stem cell line undergoing osteoblast differentiation.
16141002 2005 Collagen VI related muscle disorders.
16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
15955946 2005 Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14981181 2004 Ullrich disease due to deficiency of collagen VI in the sarcolemma.
12958705 2003 Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
12840783 2003 New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
12736748 2003 Capillary changes in skeletal muscle of patients with Ullrich's disease with collagen VI deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12374585 2002 Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.
12011280 2002 Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
11973338 2002 The epithelial mitogen keratinocyte growth factor binds to collagens via the consensus sequence glycine-proline-hydroxyproline.
11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
11337467 2001 Identification and characterization of the potential promoter regions of 1031 kinds of human genes.
10830953 2000 The DNA sequence of human chromosome 21.
10407855 1999 Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.
9580662 1998 Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
9501082 1998 Mac-2 binding protein is a cell-adhesive protein of the extracellular matrix which self-assembles into ring-like structures and binds beta1 integrins, collagens and fibronectin.
9334230 1997 Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen.
9107679 1997 Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2.
8900172 1996 Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB).
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8782832 1996 Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
8618682 1996 Genetic localization of Bethlem myopathy.
8536701 1995 Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters.
8168508 1994 Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI.
6852033 1983 Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen).
3665927 1987 Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones.
3348212 1988 Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.
3198591 1988 Amino acid sequence of the triple-helical domain of human collagen type VI.
2551668 1989 Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.
1765372 1991 The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar.
1544908 1992 Binding of the proteoglycan decorin to collagen type VI.