Details for: COL3A1
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: smooth muscle fiber of ileum (CL1000278)
Fold Change: 93.3973
Cell Significance Index: -44.1000 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 89.7707
Cell Significance Index: -36.4700 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 38.1150
Cell Significance Index: -36.3900 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 20.6697
Cell Significance Index: 264.7100 - Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 14.3460
Cell Significance Index: 88.7600 - Cell Name: theca cell (CL0000503)
Fold Change: 14.0459
Cell Significance Index: 82.5200 - Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 11.4937
Cell Significance Index: 60.4800 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 10.9538
Cell Significance Index: 229.2800 - Cell Name: endocardial cell (CL0002350)
Fold Change: 10.9500
Cell Significance Index: 64.6500 - Cell Name: preadipocyte (CL0002334)
Fold Change: 8.6688
Cell Significance Index: 169.1900 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 8.1818
Cell Significance Index: -25.1300 - Cell Name: chondroblast (CL0000058)
Fold Change: 5.3748
Cell Significance Index: 31.5500 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 3.5572
Cell Significance Index: 101.9700 - Cell Name: Leydig cell (CL0000178)
Fold Change: 3.2703
Cell Significance Index: 16.3200 - Cell Name: embryonic fibroblast (CL2000042)
Fold Change: 2.5002
Cell Significance Index: 11.9600 - Cell Name: odontoblast (CL0000060)
Fold Change: 2.4003
Cell Significance Index: 307.7000 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 2.3744
Cell Significance Index: 120.0000 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 2.2868
Cell Significance Index: 19.7800 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.2254
Cell Significance Index: 305.6100 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 2.1841
Cell Significance Index: 9.0900 - Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.7516
Cell Significance Index: 11.0200 - Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 1.6963
Cell Significance Index: 8.2500 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 1.6517
Cell Significance Index: 188.5400 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 1.6199
Cell Significance Index: 17.6100 - Cell Name: supporting cell (CL0000630)
Fold Change: 1.2741
Cell Significance Index: 5.8900 - Cell Name: perivascular cell (CL4033054)
Fold Change: 1.1327
Cell Significance Index: 5.2300 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 1.0642
Cell Significance Index: 17.8100 - Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: 0.6223
Cell Significance Index: 3.7600 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.3879
Cell Significance Index: 5.5700 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.3029
Cell Significance Index: 2.4700 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0110
Cell Significance Index: 0.1700 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0096
Cell Significance Index: 1.9100 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.0015
Cell Significance Index: 0.0400 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0180
Cell Significance Index: -13.3200 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0210
Cell Significance Index: -39.5300 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0325
Cell Significance Index: -59.9900 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0368
Cell Significance Index: -23.0100 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: -0.0438
Cell Significance Index: -30.2600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0442
Cell Significance Index: -60.0700 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0466
Cell Significance Index: -29.6200 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0515
Cell Significance Index: -38.9500 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0561
Cell Significance Index: -41.1200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0591
Cell Significance Index: -26.8200 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0604
Cell Significance Index: -10.3200 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0619
Cell Significance Index: -34.8900 - Cell Name: connective tissue cell (CL0002320)
Fold Change: -0.0705
Cell Significance Index: -0.6800 - Cell Name: muscle fibroblast (CL1001609)
Fold Change: -0.0963
Cell Significance Index: -0.5900 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.1104
Cell Significance Index: -8.4800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.1150
Cell Significance Index: -20.7200 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1200
Cell Significance Index: -25.2700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.1285
Cell Significance Index: -46.0800 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1535
Cell Significance Index: -44.1600 - Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.2280
Cell Significance Index: -1.9200 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.2339
Cell Significance Index: -46.9300 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.2404
Cell Significance Index: -28.0200 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.2940
Cell Significance Index: -42.7400 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.3092
Cell Significance Index: -39.9500 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.3137
Cell Significance Index: -35.9500 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.3145
Cell Significance Index: -38.6700 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3289
Cell Significance Index: -17.1300 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3301
Cell Significance Index: -8.6800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.3633
Cell Significance Index: -37.1100 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.4263
Cell Significance Index: -20.0400 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.4465
Cell Significance Index: -46.4900 - Cell Name: kidney cell (CL1000497)
Fold Change: -0.4910
Cell Significance Index: -3.9200 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.5323
Cell Significance Index: -39.6700 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.5442
Cell Significance Index: -18.9100 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.7072
Cell Significance Index: -43.3600 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.7382
Cell Significance Index: -34.4200 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.7416
Cell Significance Index: -46.7400 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.8526
Cell Significance Index: -18.2300 - Cell Name: helper T cell (CL0000912)
Fold Change: -0.8649
Cell Significance Index: -12.2900 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.8902
Cell Significance Index: -9.2200 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.8967
Cell Significance Index: -23.0500 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.9003
Cell Significance Index: -25.1600 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.9662
Cell Significance Index: -28.4600 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.9844
Cell Significance Index: -55.2400 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -1.0253
Cell Significance Index: -45.3500 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -1.0280
Cell Significance Index: -27.5500 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -1.0768
Cell Significance Index: -28.8100 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -1.0871
Cell Significance Index: -12.3500 - Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: -1.0910
Cell Significance Index: -13.7400 - Cell Name: keratocyte (CL0002363)
Fold Change: -1.1012
Cell Significance Index: -17.4700 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -1.1702
Cell Significance Index: -60.7900 - Cell Name: adipocyte of breast (CL0002617)
Fold Change: -1.1777
Cell Significance Index: -14.8300 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -1.1994
Cell Significance Index: -45.4200 - Cell Name: skin fibroblast (CL0002620)
Fold Change: -1.2083
Cell Significance Index: -2.7900 - Cell Name: articular chondrocyte (CL1001607)
Fold Change: -1.2251
Cell Significance Index: -6.6400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -1.2811
Cell Significance Index: -44.8800 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -1.2852
Cell Significance Index: -47.1800 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -1.3017
Cell Significance Index: -8.8200 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -1.3558
Cell Significance Index: -33.8100 - Cell Name: fibroblast (CL0000057)
Fold Change: -1.3677
Cell Significance Index: -12.8400 - Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: -1.4360
Cell Significance Index: -13.8900 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -1.4560
Cell Significance Index: -47.6700 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -1.5065
Cell Significance Index: -47.9800 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -1.5157
Cell Significance Index: -53.2600 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -1.5377
Cell Significance Index: -66.8600 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -1.5692
Cell Significance Index: -49.6300 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -1.6191
Cell Significance Index: -47.5500
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: 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
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
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
PubMed ID: 2780304
Title: Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen.
PubMed ID: 2780304
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
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
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
PubMed ID: 3357782
Title: Human pro alpha 1(III) collagen: cDNA sequence for the 3' end.
PubMed ID: 3357782
PubMed ID: 3211760
Title: Human type III collagen 'variant' is a cDNA cloning artefact.
PubMed ID: 3211760
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
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
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
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
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
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: 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
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
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
PubMed ID: 7749417
Title: Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
PubMed ID: 7749417
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
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
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
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
PubMed ID: 8680408
Title: Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV.
PubMed ID: 8680408
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
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
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
PubMed ID: 9452103
Title: A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
PubMed ID: 9452103
PubMed ID: 10819545
Title: COL3A1 mutation leading to acrogeria (Gottron Type).
PubMed ID: 10819545
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
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
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
PubMed ID: 12786757
Title: Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
PubMed ID: 12786757
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 18272325
Title: Natural variation in four human collagen genes across an ethnically diverse population.
PubMed ID: 18272325
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.