Details for: COL1A1

Gene ID: 1277

Symbol: COL1A1

Ensembl ID: ENSG00000108821

Description: collagen type I alpha 1 chain

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

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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

**Key Characteristics:** 1. **Expression:** COL1A1 is widely expressed in various tissues, including mesodermal cells, fibroblasts, smooth muscle cells, and osteoblasts. 2. **Function:** COL1A1 plays a crucial role in ECM organization, collagen fibril formation, and tissue development. 3. **Interactions:** COL1A1 interacts with various proteins, including integrins, growth factors, and proteases, to regulate cellular behavior and tissue development. 4. **Signaling pathways:** COL1A1 is involved in multiple signaling pathways, including the Wnt/β-catenin pathway, the MAPK/ERK pathway, and the PI3K/AKT pathway. **Pathways and Functions:** 1. **Adaptive Immune System:** COL1A1 plays a role in regulating immune cell behavior, including T cell activation and differentiation. 2. **Anchoring Fibril Formation:** COL1A1 is essential for the formation of anchoring fibrils, which provide mechanical stability to the ECM. 3. **Assembly of Collagen Fibrils:** COL1A1 is involved in the assembly of collagen fibrils, which provide structural support to tissues. 4. **Binding and Uptake of Ligands:** COL1A1 interacts with various ligands, including growth factors and proteases, to regulate cellular behavior. 5. **Blood Vessel Development:** COL1A1 plays a role in regulating blood vessel development and angiogenesis. 6. **Bone Trabecula Formation:** COL1A1 is involved in the formation of bone trabeculae, which provide structural support to bones. **Clinical Significance:** 1. **Osteoporosis:** COL1A1 dysregulation has been implicated in osteoporosis, a condition characterized by bone loss and increased risk of fractures. 2. **Cancer:** COL1A1 is often overexpressed in various types of cancer, including breast, lung, and colon cancer. 3. **Cardiovascular Disorders:** COL1A1 dysregulation has been implicated in cardiovascular disorders, including atherosclerosis and cardiovascular disease. 4. **Musculoskeletal Disorders:** COL1A1 dysregulation has been implicated in musculoskeletal disorders, including osteoarthritis and tendinopathy. In conclusion, the COL1A1 gene plays a critical role in regulating various biological processes, including immune response, tissue development, and disease pathogenesis. Its dysregulation has been implicated in various diseases, highlighting the importance of COL1A1 in maintaining tissue homeostasis and preventing disease. Further research is needed to fully understand the mechanisms by which COL1A1 regulates these processes and to develop effective therapeutic strategies for diseases associated with COL1A1 dysregulation.

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

DOI: 10.1016/0378-1119(88)90013-3

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

DOI: 10.1016/s0021-9258(18)48151-3

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

DOI: 10.1016/s0021-9258(18)89556-4

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

DOI: 10.1073/pnas.84.24.8869

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

DOI: 10.1016/s0021-9258(19)39327-5

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

DOI: 10.1002/j.1460-2075.1989.tb03562.x

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

DOI: 10.1111/j.1432-1033.1990.tb19208.x

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

DOI: 10.1016/s0021-9258(18)62815-7

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

DOI: 10.1016/s0934-8832(11)80178-2

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

DOI: 10.1093/nar/10.19.5925

PubMed ID: 2981843

Title: Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

PubMed ID: 2981843

DOI: 10.1016/s0021-9258(20)71150-6

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

DOI: 10.1073/pnas.82.9.2870

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

DOI: 10.1093/hmg/3.12.2201

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

DOI: 10.1016/s0021-9258(17)46833-5

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

DOI: 10.1016/s0021-9258(18)68076-7

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

DOI: 10.1016/0014-5793(91)80237-w

PubMed ID: 2010058

Title: Mutations in collagen genes: causes of rare and some common diseases in humans.

PubMed ID: 2010058

DOI: 10.1096/fasebj.5.7.2010058

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

DOI: 10.1128/mcb.24.4.1758-1768.2004

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

DOI: 10.1016/j.jprot.2013.11.014

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

DOI: 10.1073/pnas.83.16.6045

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

DOI: 10.1016/s0021-9258(18)48196-3

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

DOI: 10.1016/s0021-9258(18)47857-x

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

DOI: 10.1016/s0021-9258(18)37829-3

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

DOI: 10.1016/s0021-9258(18)81769-0

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

DOI: 10.1016/s0021-9258(18)80150-8

PubMed ID: 2777764

Title: Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.

PubMed ID: 2777764

DOI: 10.1016/s0021-9258(18)71548-2

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

DOI: 10.1016/s0021-9258(19)47168-8

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

DOI: 10.1016/s0021-9258(18)77447-4

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

DOI: 10.1016/s0021-9258(17)44798-3

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

DOI: 10.1016/s0021-9258(18)52374-7

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

DOI: 10.1016/s0021-9258(18)98449-8

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

DOI: 10.1016/s0021-9258(18)54712-8

PubMed ID: 1939261

Title: A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

PubMed ID: 1939261

DOI: 10.1016/s0021-9258(18)54581-6

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

DOI: 10.1136/jmg.28.11.757

PubMed ID: 1870989

Title: G to A polymorphism in exon 45 of the COL1A1 gene.

PubMed ID: 1870989

DOI: 10.1093/nar/19.15.4302

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

DOI: 10.1016/s0021-9258(19)74071-x

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

DOI: 10.1016/s0021-9258(19)74072-1

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

DOI: 10.1002/ajmg.1320450216

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

DOI: 10.1002/ajmg.1320450217

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

DOI: 10.3109/03008209309061961

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

DOI: 10.1111/j.1432-1033.1993.tb17565.x

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

DOI: 10.1111/j.1432-1033.1993.tb18220.x

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

DOI: 10.1002/humu.1380020308

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

DOI: 10.1016/s0021-9258(18)53826-6

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

DOI: 10.1016/s0021-9258(17)46834-7

PubMed ID: 7520724

Title: Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PubMed ID: 7520724

DOI: 10.1016/8756-3282(94)90295-x

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

DOI: 10.1002/humu.1380030327

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

DOI: 10.1093/oxfordjournals.jbchem.a124429

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

DOI: 10.1016/s0021-9258(18)43820-3

PubMed ID: 7816518

Title: Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.

PubMed ID: 7816518

DOI: 10.1203/00006450-199410000-00005

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

DOI: 10.1006/mcpr.1996.0030

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

DOI: 10.1056/nejm199804093381502

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

DOI: 10.1016/s0165-4608(02)00844-0

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

DOI: 10.1074/jbc.m414698200

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

DOI: 10.1111/j.1399-0004.2006.00646.x

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.