Property Summary

NCBI Gene PubMed Count 53
Grant Count 18
R01 Count 8
Funding $1,382,805.6
PubMed Score 122.23
PubTator Score 115.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma 3.590 0.046
primary pancreatic ductal adenocarcinoma 3.431 0.000
non-small cell lung cancer 3.648 0.000
colon cancer 1.900 0.012
pancreatic cancer 3.500 0.000
breast carcinoma 3.300 0.000
non-inflammatory breast cancer 4.800 0.000
lung adenocarcinoma 3.515 0.000
invasive ductal carcinoma 5.677 0.000
nasopharyngeal carcinoma 1.200 0.009
ductal carcinoma in situ 4.400 0.000
ovarian cancer 4.400 0.001

 GO Function (1)

Gene RIF (26)

PMID Text
25974987 COL10A1 mutation 2005delC in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia is close to the C-terminus of the protein sequence and may result in genetic heterogeneity of the Chinese population
25542771 a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild metaphyseal chondrodysplasia
25245039 Concentration of serum collagen type X levels correlated with cartilage degradation in osteoarthritis patients.
22894674 The results show that COL10A1 is a tumor biomarker upregulated in a wide variety of tumors including those of the breast, colon, bladder, stomach, esophagus, lung, testis, ovary and pancreas.
22015197 Yiqi Huayu Bushen Recipe increased the expression of aggrecan, decreased the expression of type X collagen, and promoted cell proliferation in cells from degenerated human intervertebral discs.
21665990 Genetic variation near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
21447328 a frameshift mutation leading to elongation of the deduced alpha1(X) chain associated with Metaphyseal Chondrodysplasia type Schmid
21360259 MCDS is a rare genetic skeletal disorder caused by a collagen type X defect. Though much is known about the molecular pathology of the causative COL10A1 mutations, causal therapy of the disease is not yet available
20872587 speculate that complete loss of mutant transcripts yields COL10A1 haploinsufficiency and late clinical presentation while incomplete loss of mutant transcripts yields dominant-negative effects with early clinical presentation
20569194 The effect of parathyroid hormone on expression of COL10 and COL2 in mesenchymal stem cells from osteoarthritic patients and analyzed the potential mechanisms related to its effect, was investigated.
More...

AA Sequence

MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIPYTIKSKGIAVRGEQGTPGPPGPAGP      1 - 70
RGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSAVGKPGVPGLPGKPGERGPYGPKGDVGPAGLPGPRGP     71 - 140
PGPPGIPGPAGISVPGKPGQQGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGP    141 - 210
TGPSGPPGVGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGT    211 - 280
KGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPPGNMGPQGPKG    281 - 350
IPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGPKGNPGLPGPKGDPGVGGPPGL    351 - 420
PGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTG    421 - 490
PPGPPGPRGHSGEPGLPGPPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSK    491 - 560
AYPAIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTK    561 - 630
GYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM                        631 - 680
//

Text Mined References (55)

PMID Year Title
25974987 2015 A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.
25542771 2015 Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
25416956 2014 A proteome-scale map of the human interactome network.
25245039 2014 Type X collagen levels are elevated in serum from human osteoarthritis patients and associated with biomarkers of cartilage degradation and inflammation.
23455636 2013 Seven new loci associated with age-related macular degeneration.
22894674 2012 COL10A1 expression is elevated in diverse solid tumor types and is associated with tumor vasculature.
22015197 2011 [Effects of Chinese herbal medicine Yiqi Huayu Bushen Recipe on expressions of aggrecan and type X collagen mRNAs in cells from degenerated human intervertebral discs].
21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
21447328 2011 A novel mutation leading to elongation of the deduced ?1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
21360259 2011 Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.
More...