Property Summary

NCBI Gene PubMed Count 53
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 4.6e-02
primary pancreatic ductal adenocarcinoma 3.431 5.0e-04
non-small cell lung cancer 3.648 1.3e-20
colon cancer 1.900 1.2e-02
pancreatic cancer 3.500 3.2e-04
breast carcinoma 3.300 6.5e-43
non-inflammatory breast cancer 4.800 9.6e-05
lung adenocarcinoma 3.515 2.9e-07
invasive ductal carcinoma 5.677 7.6e-08
nasopharyngeal carcinoma 1.200 8.5e-03
ductal carcinoma in situ 4.400 9.9e-06
ovarian cancer 4.400 5.1e-04

 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.
20225218 These results indicate that nitrogen-rich plasma polymerized surfaces inhibit COL10A1 expression via the suppression of COX-1.
20073986 The total expression of type X collagen in the concave side growth plates of the lower end vertebrae was higher than that in the same side growth plates of apex.
19180518 Observational study of gene-disease association. (HuGE Navigator)
19116917 HY(hypertrophy) box is the core element responsive to RUNX-2 in human COL10A1 promoter
18759285 methylation-based COL10A1 gene silencing is established in cartilage tissue and human articular chondrocytes during chondrogenesis.
18553549 Investigated a family affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being pathogenic in this family.
17335825 Type X collagen was not detected in any of atehrosclerotic plaques investigated in crural arteries.
17072841 Chondrogenesis in mesenchymal stem cells on the other hand resulted in up-regulation of collagen types I, IIA, IIB, and X, demonstrating differentiation towards cartilage of a mixed phenotype.
17009260 Premature induction of hypertrophy-related molecules (type X collagen and matrix metalloproteinase 13) occurred before production of type II collagen and was followed by up-regulation of alkaline phosphatase activity.
16806867 the triple-helical region of collagen X contains a specific DDR2 binding site that is capable of receptor activation
16598786 retinoids stimulate collagen X transcription IN chondrocytes
15880705 The effect of COL10A1 nonsense mutations in cartilage tissue has been examined in two patients, demonstrating that the mutant mRNA is completely removed by nonsense mediated mRNA decay
15695517 exposure of the NC1 thiol may trigger the recognition and degradation of mutant collagen X chains
15464363 The 4.6 kb promoter is able to drive specific expression of Col10a1 in hypertrophic cartilage.
11839302 The crystal structure at 2.0 A resolution of the human collagen X NC1 domain reveals an intimate trimeric assembly strengthened by a buried cluster of calcium ions.
11805116 chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells

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.
20872587 2010 Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type ?1(X) protein chains.
20569194 2010 Effect of parathyroid hormone on type X and type II collagen expression in mesenchymal stem cells from osteoarthritic patients.
20225218 2010 Novel insights into the mechanism of decreased expression of type X collagen in human mesenchymal stem cells from patients with osteoarthritis cultured on nitrogen-rich plasma polymers: implication of cyclooxygenase-1.
20073986 2010 Expression of Runx2 and type X collagen in vertebral growth plate of patients with adolescent idiopathic scoliosis.
19180518 2009 Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
19116917 2009 Identification of the core element responsive to runt-related transcription factor 2 in the promoter of human type X collagen gene.
18759285 2008 Correlation of COL10A1 induction during chondrogenesis of mesenchymal stem cells with demethylation of two CpG sites in the COL10A1 promoter.
18553549 2008 A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.
17335825 2008 Expression of cartilage-specific markers in calcified and non-calcified atherosclerotic lesions.
17072841 2007 Differentiation of human mesenchymal stem cells and articular chondrocytes: analysis of chondrogenic potential and expression pattern of differentiation-related transcription factors.
17009260 2006 Premature induction of hypertrophy during in vitro chondrogenesis of human mesenchymal stem cells correlates with calcification and vascular invasion after ectopic transplantation in SCID mice.
16806867 2006 The discoidin domain receptor DDR2 is a receptor for type X collagen.
16598786 2006 Retinoids directly activate the collagen X promoter in prehypertrophic chondrocytes through a distal retinoic acid response element.
15880705 2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
15695517 2005 Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15464363 2004 A highly conserved enhancer in mammalian type X collagen genes drives high levels of tissue-specific expression in hypertrophic cartilage in vitro and in vivo.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12554676 2003 Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11839302 2002 Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.
11115494 2001 Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease.
10991694 2000 Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.
10436013 1999 ERp57 functions as a subunit of specific complexes formed with the ER lectins calreticulin and calnexin.
9852679 1998 Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
9837818 1998 Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
9525992 1998 A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
9101290 1997 Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
9067753 1997 Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
9049979 1996 Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes.
8986632 1996 Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
8782043 1996 Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
8304336 1994 Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
8220429 1993 A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
8012364 1994 Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.
8004099 1994 Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
7876225 1995 Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.
7749409 1995 Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
7607655 1995 Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
2037056 1991 Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.
1764025 1991 The human collagen X gene. Complete primary translated sequence and chromosomal localization.
1743401 1991 In situ hybridization studies on the expression of type X collagen in fetal human cartilage.
1587271 1992 Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.
1397333 1992 Genomic organization and full-length cDNA sequence of human collagen X.
1397263 1992 Selective binding of anchorin CII (annexin V) to type II and X collagen and to chondrocalcin (C-propeptide of type II collagen). Implications for anchoring function between matrix vesicles and matrix proteins.