Details for: COL1A1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 234.2084
Cell Significance Index: -36.4300 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 143.9817
Cell Significance Index: -36.5200 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 77.6798
Cell Significance Index: -32.0000 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 71.9305
Cell Significance Index: -33.9600 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 63.6789
Cell Significance Index: -25.8700 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 30.0250
Cell Significance Index: 384.5200 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 29.5469
Cell Significance Index: -36.4300 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 27.1172
Cell Significance Index: -25.8900 - Cell Name: theca cell (CL0000503)
Fold Change: 24.6399
Cell Significance Index: 144.7600 - Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 22.1700
Cell Significance Index: 137.1600 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 13.3303
Cell Significance Index: 55.4800 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 13.0367
Cell Significance Index: 272.8800 - Cell Name: chondroblast (CL0000058)
Fold Change: 10.6524
Cell Significance Index: 62.5300 - Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 10.4494
Cell Significance Index: 54.9900 - Cell Name: inflammatory cell (CL0009002)
Fold Change: 9.9237
Cell Significance Index: 56.9000 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 9.1839
Cell Significance Index: -36.2400 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 7.9474
Cell Significance Index: -24.4100 - Cell Name: preadipocyte (CL0002334)
Fold Change: 5.9245
Cell Significance Index: 115.6300 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 5.8128
Cell Significance Index: 663.5300 - Cell Name: odontoblast (CL0000060)
Fold Change: 5.6209
Cell Significance Index: 720.5700 - Cell Name: supporting cell (CL0000630)
Fold Change: 5.0857
Cell Significance Index: 23.4900 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 5.0023
Cell Significance Index: 686.9500 - Cell Name: fibroblast of breast (CL4006000)
Fold Change: 4.9788
Cell Significance Index: 31.3100 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 4.8148
Cell Significance Index: 138.0200 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 3.8059
Cell Significance Index: 32.9200 - Cell Name: embryonic fibroblast (CL2000042)
Fold Change: 2.2389
Cell Significance Index: 10.7100 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 2.1556
Cell Significance Index: 36.0800 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 1.8066
Cell Significance Index: 19.6400 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 1.5574
Cell Significance Index: 78.7100 - Cell Name: perivascular cell (CL4033054)
Fold Change: 1.2302
Cell Significance Index: 5.6800 - Cell Name: kidney cell (CL1000497)
Fold Change: 1.1585
Cell Significance Index: 9.2500 - Cell Name: Leydig cell (CL0000178)
Fold Change: 0.3408
Cell Significance Index: 1.7000 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.2287
Cell Significance Index: 26.6500 - Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.2093
Cell Significance Index: 1.3100 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.1428
Cell Significance Index: 2.0500 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.1079
Cell Significance Index: 3.7500 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0920
Cell Significance Index: 18.2700 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0454
Cell Significance Index: 85.5200 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0449
Cell Significance Index: 16.1000 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.0418
Cell Significance Index: 37.7600 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0304
Cell Significance Index: 0.4700 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0224
Cell Significance Index: 12.2300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0048
Cell Significance Index: 0.3600 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0067
Cell Significance Index: -4.9300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0088
Cell Significance Index: -5.6200 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0102
Cell Significance Index: -6.4000 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: -0.0151
Cell Significance Index: -0.1300 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: -0.0152
Cell Significance Index: -2.8900 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0198
Cell Significance Index: -36.4300 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0240
Cell Significance Index: -36.9400 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0257
Cell Significance Index: -4.6400 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0291
Cell Significance Index: -39.5300 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0316
Cell Significance Index: -5.3900 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0322
Cell Significance Index: -18.1500 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0335
Cell Significance Index: -25.3800 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0350
Cell Significance Index: -15.4800 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0407
Cell Significance Index: -29.8700 - Cell Name: connective tissue cell (CL0002320)
Fold Change: -0.0488
Cell Significance Index: -0.4700 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0543
Cell Significance Index: -11.4400 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0601
Cell Significance Index: -27.2900 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0889
Cell Significance Index: -12.9200 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0939
Cell Significance Index: -11.5400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1101
Cell Significance Index: -31.6800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.1251
Cell Significance Index: -3.3400 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: -0.1367
Cell Significance Index: -22.2300 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.1394
Cell Significance Index: -4.9000 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1628
Cell Significance Index: -21.0300 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1667
Cell Significance Index: -17.0300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.1753
Cell Significance Index: -35.1600 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: -0.1864
Cell Significance Index: -1.5200 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.1910
Cell Significance Index: -2.1700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1936
Cell Significance Index: -9.1000 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.2156
Cell Significance Index: -5.6700 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2212
Cell Significance Index: -25.3400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: -0.2233
Cell Significance Index: -22.0900 - Cell Name: muscle fibroblast (CL1001609)
Fold Change: -0.2318
Cell Significance Index: -1.4200 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2384
Cell Significance Index: -17.7700 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: -0.2752
Cell Significance Index: -29.9400 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.2795
Cell Significance Index: -14.5600 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.2926
Cell Significance Index: -34.5100 - Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.3143
Cell Significance Index: -2.6400 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3373
Cell Significance Index: -35.1300 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.3911
Cell Significance Index: -6.2100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.3955
Cell Significance Index: -27.9700 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.4029
Cell Significance Index: -18.2600 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.4058
Cell Significance Index: -28.0700 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.4481
Cell Significance Index: -27.4700 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.4548
Cell Significance Index: -12.7100 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.4671
Cell Significance Index: -21.7800 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.5044
Cell Significance Index: -32.5400 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.5126
Cell Significance Index: -14.7700 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.5256
Cell Significance Index: -31.5600 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.5390
Cell Significance Index: -36.2400 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.5484
Cell Significance Index: -34.5700 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.5702
Cell Significance Index: -35.0500 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.5760
Cell Significance Index: -32.3200 - Cell Name: skin fibroblast (CL0002620)
Fold Change: -0.5803
Cell Significance Index: -1.3400 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.6149
Cell Significance Index: -19.7000 - Cell Name: preosteoblast (CL0007010)
Fold Change: -0.6336
Cell Significance Index: -5.7500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.6505
Cell Significance Index: -19.1600
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 4177201008
Symbol: CO1A1_HUMAN
Name: Collagen alpha-1(I) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9443882
Title: Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
PubMed ID: 9443882
DOI: 10.1086/301689
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2843432
Title: Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1).
PubMed ID: 2843432
PubMed ID: 3178743
Title: Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen.
PubMed ID: 3178743
DOI: 10.1042/bj2530919
PubMed ID: 6462220
Title: Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons.
PubMed ID: 6462220
DOI: 10.1038/310337a0
PubMed ID: 2822714
Title: DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription.
PubMed ID: 2822714
PubMed ID: 2857713
Title: Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts.
PubMed ID: 2857713
PubMed ID: 3480516
Title: Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1(I) collagen gene.
PubMed ID: 3480516
PubMed ID: 2318855
Title: In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
PubMed ID: 2318855
PubMed ID: 2767050
Title: A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.
PubMed ID: 2767050
PubMed ID: 5529814
Title: Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen.
PubMed ID: 5529814
DOI: 10.1021/bi00826a012
PubMed ID: 2169412
Title: A critical crosslink region in human-bone-derived collagen type I. Specific cleavage site at residue Leu95.
PubMed ID: 2169412
PubMed ID: 4319110
Title: A comparative study of glycopeptides derived from selected vertebrate collagens. A possible role of the carbohydrate in fibril formation.
PubMed ID: 4319110
PubMed ID: 2374517
Title: Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen.
PubMed ID: 2374517
PubMed ID: 6689127
Title: Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.
PubMed ID: 6689127
DOI: 10.1021/bi00291a023
PubMed ID: 6183642
Title: Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain.
PubMed ID: 6183642
PubMed ID: 2981843
Title: Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
PubMed ID: 2981843
PubMed ID: 3857621
Title: Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.
PubMed ID: 3857621
PubMed ID: 2339700
Title: Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
PubMed ID: 2339700
PubMed ID: 7881420
Title: Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
PubMed ID: 7881420
PubMed ID: 8349697
Title: Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
PubMed ID: 8349697
PubMed ID: 3170557
Title: Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
PubMed ID: 3170557
PubMed ID: 3340531
Title: Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain.
PubMed ID: 3340531
DOI: 10.1093/nar/16.1.349
PubMed ID: 2295701
Title: Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
PubMed ID: 2295701
DOI: 10.1172/jci114424
PubMed ID: 1995349
Title: Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins.
PubMed ID: 1995349
PubMed ID: 2010058
Title: Mutations in collagen genes: causes of rare and some common diseases in humans.
PubMed ID: 2010058
PubMed ID: 9295084
Title: Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
PubMed ID: 9295084
DOI: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o
PubMed ID: 9101290
Title: 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.
PubMed ID: 9101290
DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9
PubMed ID: 1895312
Title: Osteogenesis imperfecta: translation of mutation to phenotype.
PubMed ID: 1895312
DOI: 10.1136/jmg.28.7.433
PubMed ID: 14749390
Title: TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis.
PubMed ID: 14749390
PubMed ID: 18409203
Title: The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
PubMed ID: 18409203
DOI: 10.1002/ajmg.a.32213
PubMed ID: 22905912
Title: Resveratrol-induced changes of the human adipocyte secretion profile.
PubMed ID: 22905912
DOI: 10.1021/pr300539b
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 3016737
Title: Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
PubMed ID: 3016737
PubMed ID: 3108247
Title: Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
PubMed ID: 3108247
PubMed ID: 3667599
Title: A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.
PubMed ID: 3667599
PubMed ID: 3403550
Title: Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.
PubMed ID: 3403550
PubMed ID: 3244312
Title: A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
PubMed ID: 3244312
PubMed ID: 2470760
Title: RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.
PubMed ID: 2470760
PubMed ID: 2745420
Title: Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
PubMed ID: 2745420
PubMed ID: 2777764
Title: Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
PubMed ID: 2777764
PubMed ID: 2511192
Title: Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
PubMed ID: 2511192
PubMed ID: 2913053
Title: A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
PubMed ID: 2913053
DOI: 10.1172/jci113920
PubMed ID: 2794057
Title: Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
PubMed ID: 2794057
DOI: 10.1172/jci114286
PubMed ID: 2116413
Title: Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.
PubMed ID: 2116413
PubMed ID: 2211725
Title: Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.
PubMed ID: 2211725
PubMed ID: 2035536
Title: A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
PubMed ID: 2035536
PubMed ID: 1953667
Title: Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
PubMed ID: 1953667
DOI: 10.1042/bj2790747
PubMed ID: 2036375
Title: A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structures.
PubMed ID: 2036375
DOI: 10.1021/bi00234a035
PubMed ID: 2037280
Title: Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
PubMed ID: 2037280
DOI: 10.1007/bf01213088
PubMed ID: 1988452
Title: A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
PubMed ID: 1988452
PubMed ID: 1874719
Title: Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
PubMed ID: 1874719
PubMed ID: 1718984
Title: The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
PubMed ID: 1718984
PubMed ID: 1939261
Title: A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
PubMed ID: 1939261
PubMed ID: 1770532
Title: Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
PubMed ID: 1770532
PubMed ID: 1870989
Title: G to A polymorphism in exon 45 of the COL1A1 gene.
PubMed ID: 1870989
PubMed ID: 1445258
Title: Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
PubMed ID: 1445258
DOI: 10.1042/bj2880131
PubMed ID: 1460046
Title: Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.
PubMed ID: 1460046
PubMed ID: 1634225
Title: Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
PubMed ID: 1634225
DOI: 10.1007/bf00219169
PubMed ID: 1511982
Title: A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.
PubMed ID: 1511982
DOI: 10.1007/bf00221955
PubMed ID: 1460047
Title: A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.
PubMed ID: 1460047
PubMed ID: 1737847
Title: An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
PubMed ID: 1737847
DOI: 10.1172/jci115622
PubMed ID: 1613761
Title: The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
PubMed ID: 1613761
DOI: 10.1136/jmg.29.2.112
PubMed ID: 8456808
Title: Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.
PubMed ID: 8456808
PubMed ID: 8456809
Title: Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
PubMed ID: 8456809
PubMed ID: 8339541
Title: A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
PubMed ID: 8339541
PubMed ID: 7679635
Title: Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.
PubMed ID: 7679635
PubMed ID: 8223589
Title: Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
PubMed ID: 8223589
PubMed ID: 8100209
Title: SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
PubMed ID: 8100209
DOI: 10.1007/bf00217768
PubMed ID: 7691343
Title: An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
PubMed ID: 7691343
DOI: 10.1093/hmg/2.8.1155
PubMed ID: 8364588
Title: Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
PubMed ID: 8364588
PubMed ID: 8094076
Title: Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
PubMed ID: 8094076
PubMed ID: 8349698
Title: BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.
PubMed ID: 8349698
PubMed ID: 7520724
Title: Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
PubMed ID: 7520724
PubMed ID: 8019571
Title: Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
PubMed ID: 8019571
PubMed ID: 7961597
Title: Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.
PubMed ID: 7961597
PubMed ID: 7982948
Title: Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
PubMed ID: 7982948
PubMed ID: 7816518
Title: Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
PubMed ID: 7816518
PubMed ID: 7487936
Title: Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
PubMed ID: 7487936
DOI: 10.1042/bj3110815
PubMed ID: 8669434
Title: Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
PubMed ID: 8669434
DOI: 10.1002/(sici)1096-8628(19960111)61:2<111::aid-ajmg1>3.0.co;2-#
PubMed ID: 8786074
Title: Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
PubMed ID: 8786074
DOI: 10.1007/bf02185764
PubMed ID: 8723681
Title: Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
PubMed ID: 8723681
DOI: 10.1002/(sici)1098-1004(1996)7:4<318::aid-humu5>3.0.co;2-4
PubMed ID: 8799376
Title: Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene.
PubMed ID: 8799376
PubMed ID: 8841196
Title: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.
PubMed ID: 8841196
DOI: 10.1038/ng1096-203
PubMed ID: 9101304
Title: Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
PubMed ID: 9101304
DOI: 10.1002/(sici)1098-1004(1997)9:4<378::aid-humu16>3.0.co;2-#
PubMed ID: 9143923
Title: (G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
PubMed ID: 9143923
DOI: 10.1002/(sici)1098-1004(1997)9:5<431::aid-humu9>3.0.co;2-6
PubMed ID: 9600458
Title: Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
PubMed ID: 9600458
DOI: 10.1002/(sici)1098-1004(1998)11:5<395::aid-humu7>3.0.co;2-4
PubMed ID: 10627137
Title: Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes.
PubMed ID: 10627137
PubMed ID: 9535665
Title: Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women.
PubMed ID: 9535665
PubMed ID: 10408781
Title: Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III.
PubMed ID: 10408781
DOI: 10.1002/(sici)1098-1004(1999)13:6<503::aid-humu11>3.0.co;2-l
PubMed ID: 10739762
Title: Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
PubMed ID: 10739762
DOI: 10.1086/302859
PubMed ID: 8988177
Title: Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
PubMed ID: 8988177
DOI: 10.1038/ng0197-95
PubMed ID: 12660034
Title: Dermatofibrosarcoma protuberans of breast.
PubMed ID: 12660034
PubMed ID: 15728585
Title: Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
PubMed ID: 15728585
PubMed ID: 15864348
Title: A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
PubMed ID: 15864348
DOI: 10.1172/jci22760
PubMed ID: 16879195
Title: Osteogenesis imperfecta: clinical, biochemical and molecular findings.
PubMed ID: 16879195
PubMed ID: 16705691
Title: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
PubMed ID: 16705691
DOI: 10.1002/humu.9423
PubMed ID: 16786509
Title: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
PubMed ID: 16786509
DOI: 10.1002/humu.9430
PubMed ID: 16566045
Title: Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
PubMed ID: 16566045
DOI: 10.1002/pd.1428
PubMed ID: 16638323
Title: A new mutation in COL1A1 gene in a family with osteogenesis imperfecta.
PubMed ID: 16638323
Sequence Information:
- Length: 1464
- Mass: 138911
- Checksum: B0581DAD2809DDE8
- Sequence:
MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC VQNGLRYHDR DVWKPEPCRI CVCDNGKVLC DDVICDETKN CPGAEVPEGE CCPVCPDGSE SPTDQETTGV EGPKGDTGPR GPRGPAGPPG RDGIPGQPGL PGPPGPPGPP GPPGLGGNFA PQLSYGYDEK STGGISVPGP MGPSGPRGLP GPPGAPGPQG FQGPPGEPGE PGASGPMGPR GPPGPPGKNG DDGEAGKPGR PGERGPPGPQ GARGLPGTAG LPGMKGHRGF SGLDGAKGDA GPAGPKGEPG SPGENGAPGQ MGPRGLPGER GRPGAPGPAG ARGNDGATGA AGPPGPTGPA GPPGFPGAVG AKGEAGPQGP RGSEGPQGVR GEPGPPGPAG AAGPAGNPGA DGQPGAKGAN GAPGIAGAPG FPGARGPSGP QGPGGPPGPK GNSGEPGAPG SKGDTGAKGE PGPVGVQGPP GPAGEEGKRG ARGEPGPTGL PGPPGERGGP GSRGFPGADG VAGPKGPAGE RGSPGPAGPK GSPGEAGRPG EAGLPGAKGL TGSPGSPGPD GKTGPPGPAG QDGRPGPPGP PGARGQAGVM GFPGPKGAAG EPGKAGERGV PGPPGAVGPA GKDGEAGAQG PPGPAGPAGE RGEQGPAGSP GFQGLPGPAG PPGEAGKPGE QGVPGDLGAP GPSGARGERG FPGERGVQGP PGPAGPRGAN GAPGNDGAKG DAGAPGAPGS QGAPGLQGMP GERGAAGLPG PKGDRGDAGP KGADGSPGKD GVRGLTGPIG PPGPAGAPGD KGESGPSGPA GPTGARGAPG DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG DAGAKGDAGP PGPAGPAGPP GPIGNVGAPG AKGARGSAGP PGATGFPGAA GRVGPPGPSG NAGPPGPPGP AGKEGGKGPR GETGPAGRPG EVGPPGPPGP AGEKGSPGAD GPAGAPGTPG PQGIAGQRGV VGLPGQRGER GFPGLPGPSG EPGKQGPSGA SGERGPPGPM GPPGLAGPPG ESGREGAPGA EGSPGRDGSP GAKGDRGETG PAGPPGAPGA PGAPGPVGPA GKSGDRGETG PAGPAGPVGP VGARGPAGPQ GPRGDKGETG EQGDRGIKGH RGFSGLQGPP GPPGSPGEQG PSGASGPAGP RGPPGSAGAP GKDGLNGLPG PIGPPGPRGR TGDAGPVGPP GPPGPPGPPG PPSAGFDFSF LPQPPQEKAH DGGRYYRADD ANVVRDRDLE VDTTLKSLSQ QIENIRSPEG SRKNPARTCR DLKMCHSDWK SGEYWIDPNQ GCNLDAIKVF CNMETGETCV YPTQPSVAQK NWYISKNPKD KRHVWFGESM TDGFQFEYGG QGSDPADVAI QLTFLRLMST EASQNITYHC KNSVAYMDQQ TGNLKKALLL QGSNEIEIRA EGNSRFTYSV TVDGCTSHTG AWGKTVIEYK TTKTSRLPII DVAPLDVGAP DQEFGFDVGP VCFL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.