| Tbio | Collagen alpha-1(XI) chain |
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
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Property Summary
| NCBI Gene PubMed Count | 75 |
| Grant Count | 27 |
| R01 Count | 11 |
| Funding | $1,966,224.86 |
| PubMed Score | 129.50 |
| PubTator Score | 97.29 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | 2.200 | 0.000 |
| oligodendroglioma | -1.300 | 0.003 |
| glioblastoma | 1.700 | 0.004 |
| cystic fibrosis | -2.665 | 0.000 |
| atypical teratoid / rhabdoid tumor | 2.500 | 0.029 |
| adrenocortical carcinoma | 2.741 | 0.037 |
| primary pancreatic ductal adenocarcinoma | 3.011 | 0.031 |
| non-small cell lung cancer | 4.679 | 0.000 |
| X-linked cerebral adrenoleukodystrophy | 3.800 | 0.042 |
| colon cancer | 5.000 | 0.000 |
| lung cancer | 3.500 | 0.000 |
| pancreatic cancer | 3.800 | 0.000 |
| breast carcinoma | 3.800 | 0.000 |
| Breast cancer | 5.100 | 0.022 |
| lung adenocarcinoma | 3.100 | 0.000 |
| pediatric high grade glioma | 1.500 | 0.010 |
| group 4 medulloblastoma | -1.600 | 0.000 |
| pilocytic astrocytoma | 2.900 | 0.000 |
| invasive ductal carcinoma | 5.987 | 0.000 |
| Pick disease | 1.500 | 0.001 |
| ductal carcinoma in situ | 3.300 | 0.004 |
| ovarian cancer | 5.600 | 0.000 |
| psoriasis | -1.100 | 0.000 |
| PMID | Text |
|---|---|
| 27455018 | No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan |
| 26504042 | High Col11A1 mRNA expression is associated with Adenocarcinoma of the Papilla of Vater and Pancreas Carcinoma. |
| 26497787 | Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-open-glaucoma disease |
| 26448946 | These data suggest that pro-COL11A1 expression is a highly sensitive biomarker to predict malignant relapse of intraductal papilloma. |
| 26087191 | Analysis of 104 epithelial ovarian carcinoma patients showed that high COL11A1 mRNA levels are significantly associated with poor chemoresponse and clinical outcome. |
| 25761876 | COL11A1/(pro)collagen 11A1 expression is a remarkable biomarker of human carcinoma-associated stromal cells and carcinoma progression. |
| 25732101 | This meta-analysis suggests that PLEKHA7 rs11024102 is associated with PACG (primary angle closure glaucoma) in Asian population and COL11A1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations. |
| 25511741 | Studies indicate that collagen type XI alpha 1 (colXIalpha1) is overexpressed at mRNA and protein levels in many cancer types. |
| 25417197 | The immunodetection of procollagen 11A1 in cancer-associated stromal cells could be a useful biomarker for human colon adenocarcinoma characterisation. |
| 25240749 | Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome. |
| More... |
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGS 1 - 70 DTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFE 71 - 140 DHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRI 141 - 210 LDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKE 211 - 280 AESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDS 281 - 350 QRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG 351 - 420 AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPG 421 - 490 TMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGP 491 - 560 QGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDD 561 - 630 GMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQG 631 - 700 LPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGV 701 - 770 RGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP 771 - 840 GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDG 841 - 910 PPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGP 911 - 980 IGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQ 981 - 1050 GPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAG 1051 - 1120 SPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGF 1121 - 1190 PGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA 1191 - 1260 GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDG 1261 - 1330 VGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGP 1331 - 1400 AGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEK 1401 - 1470 GDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPG 1471 - 1540 EVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDL 1541 - 1610 QLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL 1611 - 1680 LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFI 1681 - 1750 KTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG 1751 - 1806 //
| PMID | Year | Title |
|---|---|---|
| 27455018 | 2016 | [Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan]. |
| 26504042 | 2015 | Gene Expression of Col11A1 Is a Marker Not only for Pancreas Carcinoma But also for Adenocarcinoma of the Papilla of Vater, Discriminating Between Carcinoma and Chronic Pancreatitis. |
| 26497787 | 2015 | Advances in glaucoma genetics. |
| 26448946 | 2015 | Collagen Type XI Alpha 1 Expression in Intraductal Papillomas Predicts Malignant Recurrence. |
| 26087191 | 2015 | COL11A1 confers chemoresistance on ovarian cancer cells through the activation of Akt/c/EBP? pathway and PDK1 stabilization. |
| 25761876 | 2015 | COL11A1/(pro)collagen 11A1 expression is a remarkable biomarker of human invasive carcinoma-associated stromal cells and carcinoma progression. |
| 25732101 | 2015 | Genetic associations in PLEKHA7 and COL11A1 with primary angle closure glaucoma: a meta-analysis. |
| 25511741 | 2015 | Tumor matrix protein collagen XI?1 in cancer. |
| 25417197 | 2014 | Validation of COL11A1/procollagen 11A1 expression in TGF-?1-activated immortalised human mesenchymal cells and in stromal cells of human colon adenocarcinoma. |
| 25240749 | 2014 | Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. |
| More... |
