Details for: COL3A1

Gene ID: 1281

Symbol: COL3A1

Ensembl ID: ENSG00000168542

Description: collagen type III alpha 1 chain

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 11.77
    Marker Score: 6,655
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 5.38
    Marker Score: 3,600
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 4.67
    Marker Score: 61,628
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 4
    Marker Score: 5,505
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 4
    Marker Score: 3,044
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.71
    Marker Score: 24,159
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 3.44
    Marker Score: 4,479
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 3.34
    Marker Score: 5,148
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.24
    Marker Score: 36,547
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 3.02
    Marker Score: 970
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.98
    Marker Score: 1,127
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 2.92
    Marker Score: 7,654
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.76
    Marker Score: 717
  • Cell Name: theca cell (CL0000503)
    Fold Change: 2.73
    Marker Score: 1,956
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.73
    Marker Score: 1,518
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 2.64
    Marker Score: 594
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.56
    Marker Score: 1,243
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.53
    Marker Score: 10,916
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.53
    Marker Score: 4,867
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.5
    Marker Score: 5,884
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.4
    Marker Score: 24,153
  • Cell Name: Unknown (CL0002371)
    Fold Change: 2.39
    Marker Score: 2,535
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 2.38
    Marker Score: 674
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.32
    Marker Score: 6,312
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.31
    Marker Score: 2,793
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.3
    Marker Score: 2,480
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.2
    Marker Score: 4,126
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 2.18
    Marker Score: 2,102
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.99
    Marker Score: 2,461
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.98
    Marker Score: 686
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.98
    Marker Score: 4,863
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.96
    Marker Score: 1,236
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.86
    Marker Score: 63,153
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.79
    Marker Score: 768
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.78
    Marker Score: 409
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.76
    Marker Score: 662
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.71
    Marker Score: 929
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.62
    Marker Score: 362
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.62
    Marker Score: 5,987
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.62
    Marker Score: 399
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.59
    Marker Score: 1,519
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.57
    Marker Score: 1,033
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.57
    Marker Score: 2,163
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.56
    Marker Score: 1,283
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.51
    Marker Score: 780
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,529
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.45
    Marker Score: 410
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.39
    Marker Score: 1,729
  • Cell Name: adipose microvascular endothelial cell (CL2000072)
    Fold Change: 1.38
    Marker Score: 409
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.34
    Marker Score: 893
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.3
    Marker Score: 726
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.26
    Marker Score: 426
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.24
    Marker Score: 881
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 1.23
    Marker Score: 315
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.23
    Marker Score: 1,379
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 1.2
    Marker Score: 295
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1
    Marker Score: 733
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 1.09
    Marker Score: 437
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.05
    Marker Score: 438
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.05
    Marker Score: 4,361
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.01
    Marker Score: 589
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,773
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,998
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,404
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.96
    Marker Score: 1,918
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.95
    Marker Score: 627
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.95
    Marker Score: 3,743
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.95
    Marker Score: 1,014
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.94
    Marker Score: 264
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.92
    Marker Score: 243
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.92
    Marker Score: 969
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,218
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,728
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.91
    Marker Score: 235
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.9
    Marker Score: 5,390
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.89
    Marker Score: 233
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.89
    Marker Score: 758
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.89
    Marker Score: 226
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,268
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.86
    Marker Score: 298
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.83
    Marker Score: 1,442
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.82
    Marker Score: 1,386
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.82
    Marker Score: 367
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,265
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.77
    Marker Score: 199
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 583
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.76
    Marker Score: 419
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.76
    Marker Score: 871
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.75
    Marker Score: 198
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 386
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.72
    Marker Score: 451
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.72
    Marker Score: 12,742
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.72
    Marker Score: 540
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.71
    Marker Score: 1,444
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 644
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.68
    Marker Score: 166
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.67
    Marker Score: 10,830
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.67
    Marker Score: 333

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** COL3A1 is a type III collagen gene that belongs to the collagen family, which consists of over 20 different collagen genes. Type III collagen is unique in its ability to form fibrils and is widely expressed in various tissues, including the skin, muscles, bones, and organs. The COL3A1 gene is characterized by its high expression in certain cell types and tissues, such as endocardial cells, skeletal muscle satellite cells, and mesenchymal stem cells. The gene's products have been shown to interact with various proteins and signaling pathways, including integrins, growth factors, and cytokines, which are involved in cell adhesion, migration, differentiation, and signaling. **Pathways and Functions** COL3A1 is involved in several biological pathways and functions, including: 1. **Cell-Matrix Adhesion**: COL3A1 interacts with integrins and other ECM components to regulate cell adhesion and migration. 2. **Cell Signaling**: COL3A1 products interact with growth factors, cytokines, and signaling proteins to regulate cell proliferation, differentiation, and survival. 3. **ECM Organization**: COL3A1 is essential for the formation and organization of the ECM, which provides structural support and regulates tissue development and function. 4. **Tissue Development and Homeostasis**: COL3A1 is involved in the development and maintenance of various tissues, including the skin, muscles, bones, and organs. 5. **Disease Pathogenesis**: COL3A1 has been implicated in several diseases, including cardiovascular disorders, cancer, and fibrotic diseases, where it plays a role in tissue remodeling and ECM degradation. **Clinical Significance** COL3A1 has significant clinical implications in various diseases, including: 1. **Cardiovascular Disorders**: COL3A1 is involved in the development of cardiovascular disorders, such as aortic aneurysms and cardiovascular disease, where it plays a role in ECM remodeling and tissue damage. 2. **Cancer**: COL3A1 has been implicated in cancer progression, where it regulates cell adhesion, migration, and signaling. 3. **Fibrotic Diseases**: COL3A1 is involved in the development of fibrotic diseases, such as liver and kidney disease, where it regulates ECM deposition and tissue remodeling. 4. **Musculoskeletal Disorders**: COL3A1 is involved in the development of musculoskeletal disorders, such as osteoarthritis and muscular dystrophy, where it regulates ECM organization and tissue function. In conclusion, COL3A1 is a critical gene that plays a pivotal role in the formation, organization, and maintenance of the ECM, which is essential for tissue structure, function, and development. Its dysregulation has significant clinical implications in various diseases, highlighting the importance of COL3A1 in understanding human disease and developing novel therapeutic strategies.

Genular Protein ID: 1661974807

Symbol: CO3A1_HUMAN

Name: Collagen alpha-1(III) chain

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2764886

Title: Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

PubMed ID: 2764886

DOI: 10.1042/bj2600509

PubMed ID: 11566270

Title: Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes.

PubMed ID: 11566270

DOI: 10.1016/s0945-053x(01)00145-7

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 2777083

Title: Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

PubMed ID: 2777083

DOI: 10.1016/0378-1119(89)90228-x

PubMed ID: 3405773

Title: Nucleotide sequence of a cDNA coding for the amino-terminal region of human prepro alpha 1(III) collagen.

PubMed ID: 3405773

DOI: 10.1093/nar/16.14.7201

PubMed ID: 2780304

Title: Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen.

PubMed ID: 2780304

DOI: 10.1093/nar/17.16.6742

PubMed ID: 557335

Title: Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver.

PubMed ID: 557335

DOI: 10.1021/bi00625a020

PubMed ID: 8317500

Title: Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

PubMed ID: 8317500

PubMed ID: 7487954

Title: Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

PubMed ID: 7487954

DOI: 10.1042/bj3110939

PubMed ID: 7864881

Title: Onco-fetal/laminin-binding collagen from colon carcinoma: detection of new sequences.

PubMed ID: 7864881

DOI: 10.1006/bbrc.1995.1264

PubMed ID: 687591

Title: Covalent structure of collagen: amino acid sequence of five consecutive CNBr peptides from type III collagen of human liver.

PubMed ID: 687591

DOI: 10.1021/bi00609a034

PubMed ID: 1672129

Title: G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

PubMed ID: 1672129

DOI: 10.1016/s0021-9258(19)67780-x

PubMed ID: 6246925

Title: Covalent structure of collagen: amino acid sequence of alpha 1 (III)-CB5 from type III collagen of human liver.

PubMed ID: 6246925

DOI: 10.1021/bi00549a008

PubMed ID: 2145268

Title: A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

PubMed ID: 2145268

DOI: 10.1016/s0021-9258(17)44870-8

PubMed ID: 3357782

Title: Human pro alpha 1(III) collagen: cDNA sequence for the 3' end.

PubMed ID: 3357782

DOI: 10.1093/nar/16.5.2337

PubMed ID: 3211760

Title: Human type III collagen 'variant' is a cDNA cloning artefact.

PubMed ID: 3211760

DOI: 10.1093/nar/16.24.11833

PubMed ID: 7016180

Title: Covalent structure of collagen: amino acid sequence of alpha 1(III)-CB9 from type III collagen of human liver.

PubMed ID: 7016180

DOI: 10.1021/bi00512a040

PubMed ID: 6096827

Title: Molecular cloning and carboxyl-propeptide analysis of human type III procollagen.

PubMed ID: 6096827

DOI: 10.1093/nar/12.24.9383

PubMed ID: 3754462

Title: Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.

PubMed ID: 3754462

DOI: 10.1021/bi00354a033

PubMed ID: 3858826

Title: Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

PubMed ID: 3858826

DOI: 10.1073/pnas.82.10.3385

PubMed ID: 2579949

Title: Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.

PubMed ID: 2579949

DOI: 10.1016/s0021-9258(18)89272-9

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: 19455184

Title: Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.

PubMed ID: 19455184

DOI: 10.1038/ejhg.2009.76

PubMed ID: 25205403

Title: Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

PubMed ID: 25205403

DOI: 10.1038/ejhg.2014.181

PubMed ID: 28742248

Title: Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

PubMed ID: 28742248

DOI: 10.1002/ajmg.a.38345

PubMed ID: 28258187

Title: Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

PubMed ID: 28258187

DOI: 10.1136/jmedgenet-2016-104421

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: 18805790

Title: Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries.

PubMed ID: 18805790

DOI: 10.1074/jbc.m805394200

PubMed ID: 23001006

Title: Structural basis of fibrillar collagen trimerization and related genetic disorders.

PubMed ID: 23001006

DOI: 10.1038/nsmb.2389

PubMed ID: 8514866

Title: Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

PubMed ID: 8514866

DOI: 10.1172/jci116490

PubMed ID: 2235526

Title: G to A polymorphism in exon 31 of the COL3A1 gene.

PubMed ID: 2235526

DOI: 10.1093/nar/18.20.6180

PubMed ID: 2243125

Title: A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

PubMed ID: 2243125

DOI: 10.1172/jci114863

PubMed ID: 1370809

Title: A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

PubMed ID: 1370809

DOI: 10.1007/bf00197268

PubMed ID: 8411057

Title: The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

PubMed ID: 8411057

DOI: 10.1136/jmg.30.8.690

PubMed ID: 2492273

Title: A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.

PubMed ID: 2492273

DOI: 10.1016/s0021-9258(18)94192-x

PubMed ID: 7749417

Title: Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.

PubMed ID: 7749417

DOI: 10.1002/humu.1380050213

PubMed ID: 1352273

Title: A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

PubMed ID: 1352273

DOI: 10.1007/bf00194313

PubMed ID: 2808425

Title: Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

PubMed ID: 2808425

DOI: 10.1016/s0021-9258(19)47303-1

PubMed ID: 2349939

Title: Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

PubMed ID: 2349939

PubMed ID: 1895316

Title: Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

PubMed ID: 1895316

DOI: 10.1136/jmg.28.7.458

PubMed ID: 1357232

Title: A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

PubMed ID: 1357232

DOI: 10.1007/bf02435995

PubMed ID: 1496983

Title: Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

PubMed ID: 1496983

PubMed ID: 8098182

Title: Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

PubMed ID: 8098182

DOI: 10.1002/ajmg.1320460308

PubMed ID: 8255472

Title: Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.

PubMed ID: 8255472

DOI: 10.1212/wnl.43.12.2652

PubMed ID: 7912131

Title: Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.

PubMed ID: 7912131

DOI: 10.1093/hmg/3.3.511

PubMed ID: 7833919

Title: A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen.

PubMed ID: 7833919

DOI: 10.1093/hmg/3.9.1617

PubMed ID: 8019562

Title: Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.

PubMed ID: 8019562

DOI: 10.1002/humu.1380030315

PubMed ID: 8680408

Title: Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV.

PubMed ID: 8680408

DOI: 10.1002/humu.1380060408

PubMed ID: 8884076

Title: Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.

PubMed ID: 8884076

DOI: 10.1111/j.1399-0004.1996.tb03790.x

PubMed ID: 9147870

Title: Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.

PubMed ID: 9147870

DOI: 10.1111/j.1399-0004.1996.tb02709.x

PubMed ID: 8664902

Title: A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.

PubMed ID: 8664902

DOI: 10.1002/(sici)1098-1004(1996)7:1<59::aid-humu8>3.0.co;2-k

PubMed ID: 8990011

Title: A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

PubMed ID: 8990011

DOI: 10.1002/(sici)1098-1004(1997)9:1<62::aid-humu11>3.0.co;2-n

PubMed ID: 9036918

Title: Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.

PubMed ID: 9036918

DOI: 10.1111/1523-1747.ep12286441

PubMed ID: 9452103

Title: A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.

PubMed ID: 9452103

DOI: 10.1002/humu.1380110182

PubMed ID: 10819545

Title: COL3A1 mutation leading to acrogeria (Gottron Type).

PubMed ID: 10819545

DOI: 10.1046/j.1365-2133.2000.03266.x

PubMed ID: 10923041

Title: Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.

PubMed ID: 10923041

DOI: 10.1002/1098-1004(200008)16:2<176::aid-humu12>3.0.co;2-e

PubMed ID: 10706896

Title: Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

PubMed ID: 10706896

DOI: 10.1056/nejm200003093421001

PubMed ID: 11168790

Title: Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

PubMed ID: 11168790

DOI: 10.1046/j.1365-2796.2001.00761.x

PubMed ID: 12694234

Title: Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

PubMed ID: 12694234

DOI: 10.1034/j.1399-0004.2003.00047.x

PubMed ID: 12786757

Title: Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.

PubMed ID: 12786757

DOI: 10.1034/j.1399-0004.2003.00075.x

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18272325

Title: Natural variation in four human collagen genes across an ethnically diverse population.

PubMed ID: 18272325

DOI: 10.1016/j.ygeno.2007.12.008

Sequence Information:

  • Length: 1466
  • Mass: 138564
  • Checksum: B904B4E05E17D339
  • Sequence:
  • MMSFVQKGSW LLLALLHPTI ILAQQEAVEG GCSHLGQSYA DRDVWKPEPC QICVCDSGSV 
    LCDDIICDDQ ELDCPNPEIP FGECCAVCPQ PPTAPTRPPN GQGPQGPKGD PGPPGIPGRN 
    GDPGIPGQPG SPGSPGPPGI CESCPTGPQN YSPQYDSYDV KSGVAVGGLA GYPGPAGPPG 
    PPGPPGTSGH PGSPGSPGYQ GPPGEPGQAG PSGPPGPPGA IGPSGPAGKD GESGRPGRPG 
    ERGLPGPPGI KGPAGIPGFP GMKGHRGFDG RNGEKGETGA PGLKGENGLP GENGAPGPMG 
    PRGAPGERGR PGLPGAAGAR GNDGARGSDG QPGPPGPPGT AGFPGSPGAK GEVGPAGSPG 
    SNGAPGQRGE PGPQGHAGAQ GPPGPPGING SPGGKGEMGP AGIPGAPGLM GARGPPGPAG 
    ANGAPGLRGG AGEPGKNGAK GEPGPRGERG EAGIPGVPGA KGEDGKDGSP GEPGANGLPG 
    AAGERGAPGF RGPAGPNGIP GEKGPAGERG APGPAGPRGA AGEPGRDGVP GGPGMRGMPG 
    SPGGPGSDGK PGPPGSQGES GRPGPPGPSG PRGQPGVMGF PGPKGNDGAP GKNGERGGPG 
    GPGPQGPPGK NGETGPQGPP GPTGPGGDKG DTGPPGPQGL QGLPGTGGPP GENGKPGEPG 
    PKGDAGAPGA PGGKGDAGAP GERGPPGLAG APGLRGGAGP PGPEGGKGAA GPPGPPGAAG 
    TPGLQGMPGE RGGLGSPGPK GDKGEPGGPG ADGVPGKDGP RGPTGPIGPP GPAGQPGDKG 
    EGGAPGLPGI AGPRGSPGER GETGPPGPAG FPGAPGQNGE PGGKGERGAP GEKGEGGPPG 
    VAGPPGGSGP AGPPGPQGVK GERGSPGGPG AAGFPGARGL PGPPGSNGNP GPPGPSGSPG 
    KDGPPGPAGN TGAPGSPGVS GPKGDAGQPG EKGSPGAQGP PGAPGPLGIA GITGARGLAG 
    PPGMPGPRGS PGPQGVKGES GKPGANGLSG ERGPPGPQGL PGLAGTAGEP GRDGNPGSDG 
    LPGRDGSPGG KGDRGENGSP GAPGAPGHPG PPGPVGPAGK SGDRGESGPA GPAGAPGPAG 
    SRGAPGPQGP RGDKGETGER GAAGIKGHRG FPGNPGAPGS PGPAGQQGAI GSPGPAGPRG 
    PVGPSGPPGK DGTSGHPGPI GPPGPRGNRG ERGSEGSPGH PGQPGPPGPP GAPGPCCGGV 
    GAAAIAGIGG EKAGGFAPYY GDEPMDFKIN TDEIMTSLKS VNGQIESLIS PDGSRKNPAR 
    NCRDLKFCHP ELKSGEYWVD PNQGCKLDAI KVFCNMETGE TCISANPLNV PRKHWWTDSS 
    AEKKHVWFGE SMDGGFQFSY GNPELPEDVL DVHLAFLRLL SSRASQNITY HCKNSIAYMD 
    QASGNVKKAL KLMGSNEGEF KAEGNSKFTY TVLEDGCTKH TGEWSKTVFE YRTRKAVRLP 
    IVDIAPYDIG GPDQEFGVDV GPVCFL

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.