Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits; this gene encodes the alpha 3 subunit. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. In Goodpasture's syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand.[6]
Disease Databaseedit
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000169031 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000079465 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (Mar 1992). "Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen". J Clin Invest. 89 (2): 592–601. doi:10.1172/JCI115625. PMC442892. PMID 1737849.
^ ab"Entrez Gene: COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)".
Further readingedit
Hinek A (1995). "Nature and the multiple functions of the 67-kD elastin-/laminin binding protein". Cell Adhes. Commun. 2 (3): 185–93. doi:10.3109/15419069409004436. PMID 7827955.
Ständer M, Naumann U, Wick W, Weller M (1999). "Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth". Cell Tissue Res. 296 (2): 221–7. doi:10.1007/s004410051283. PMID 10382266. S2CID 20282995.
Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
Pescucci C, Longo I, Bruttini M, et al. (2003). "Type-IV collagen related diseases". J. Nephrol. 16 (2): 314–6. PMID 12768082.
Torra R, Tazón-Vega B, Ars E, Ballarín J (2005). "Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure". Nephrol. Dial. Transplant. 19 (10): 2429–32. doi:10.1093/ndt/gfh435. PMID 15280517.
Rana K, Wang YY, Buzza M, et al. (2005). "The genetics of thin basement membrane nephropathy". Semin. Nephrol. 25 (3): 163–70. doi:10.1016/j.semnephrol.2005.01.008. PMID 15880327.
Maziers N, Dahan K, Pirson Y (2006). "[From Alport syndrome to benign familial hematuria: clinical and genetic aspect]". Nephrol. Ther. 1 (2): 90–100. doi:10.1016/j.nephro.2005.03.005. PMID 16895672.
Ghebrehiwet B, Peerschke EI, Hong Y, et al. (1992). "Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV". J. Leukoc. Biol. 51 (6): 546–56. doi:10.1002/jlb.51.6.546. PMID 1377218. S2CID 1214598.
Quinones S, Bernal D, García-Sogo M, et al. (1992). "Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction". J. Biol. Chem. 267 (28): 19780–4. doi:10.1016/S0021-9258(19)88621-0. PMID 1400291.
Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID 1724753.
Morrison KE, Mariyama M, Yang-Feng TL, Reeders ST (1991). "Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen". Am. J. Hum. Genet. 49 (3): 545–54. PMC1683122. PMID 1882840.
Hernandez MR, Igoe F, Neufeld AH (1986). "Extracellular matrix of the human optic nerve head". Am. J. Ophthalmol. 102 (2): 139–48. doi:10.1016/0002-9394(86)90134-0. PMID 2426947.
Griffin CA, Emanuel BS, Hansen JR, et al. (1987). "Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 512–6. Bibcode:1987PNAS...84..512G. doi:10.1073/pnas.84.2.512. PMC304239. PMID 3025878.
Murata K, Motayama T, Kotake C (1986). "Collagen types in various layers of the human aorta and their changes with the atherosclerotic process". Atherosclerosis. 60 (3): 251–62. doi:10.1016/0021-9150(86)90172-3. PMID 3089234.
Glant TT, Hadházy C, Mikecz K, Sipos A (1985). "Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II". Histochemistry. 82 (2): 149–58. doi:10.1007/bf00708199. PMID 3997552. S2CID 19401258.
Uscanga L, Kennedy RH, Stocker S, et al. (1984). "Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas". Digestion. 30 (3): 158–64. doi:10.1159/000199100. PMID 6389236.
Sundarraj N, Willson J (1982). "Monoclonal antibody to human basement membrane collagen type IV". Immunology. 47 (1): 133–40. PMC1555500. PMID 6811420.
Hahn E, Wick G, Pencev D, Timpl R (1980). "Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin". Gut. 21 (1): 63–71. doi:10.1136/gut.21.1.63. PMC1419572. PMID 6988303.
Singhal PC, Sharma P, Garg P (1996). "HIV-1 gp160 protein-macrophage interactions modulate mesangial cell proliferation and matrix synthesis". Am. J. Pathol. 147 (6): 1780–9. PMC1869951. PMID 7495302.
April 12, 2024
collagen, type, alpha, collagen, alpha, chain, protein, that, humans, encoded, col4a3, gene, col4a3identifiersaliasescol4a3, collagen, type, alpha, chain, ats2, ats3external, idsomim, 120070, 104688, homologene, 68033, genecards, col4a3gene, location, human, c. Collagen alpha 3 IV chain is a protein that in humans is encoded by the COL4A3 gene 5 6 COL4A3IdentifiersAliasesCOL4A3 collagen type IV alpha 3 chain ATS2 ATS3External IDsOMIM 120070 MGI 104688 HomoloGene 68033 GeneCards COL4A3Gene location Human Chr Chromosome 2 human 1 Band2q36 3Start227 164 624 bp 1 End227 314 792 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 1 C5Start82 564 642 bp 2 End82 699 780 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inretinal pigment epitheliumrenal medullaendothelial cellglomerulustriceps brachii muscleoptic nervemetanephric glomeruluscaput epididymisleft lobe of thyroid glandvastus lateralis muscleTop expressed inretinal pigment epitheliumright lungright lung lobekidneyleft lungleft lung lobeaortic valveirisascending aortaproximal tubuleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionextracellular matrix structural constituent structural molecule activity protein binding metalloendopeptidase inhibitor activity integrin binding extracellular matrix structural constituent conferring tensile strengthCellular componentcollagen endoplasmic reticulum lumen intracellular membrane bounded organelle endoplasmic reticulum extracellular region basement membrane collagen type IV trimer extracellular space extracellular matrix collagen containing extracellular matrixBiological processextracellular matrix organization sensory perception of sound blood circulation cell adhesion endothelial cell apoptotic process cell population proliferation activation of cysteine type endopeptidase activity involved in apoptotic process negative regulation of cell population proliferation cell surface receptor signaling pathway negative regulation of endopeptidase activity negative regulation of angiogenesis glomerular basement membrane development collagen activated tyrosine kinase receptor signaling pathway response to glucoseSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez128512828EnsemblENSG00000169031ENSMUSG00000079465UniProtQ01955Q9QZS0RefSeq mRNA NM 000091NM 031362NM 031363NM 031364NM 031365NM 031366NM 007734RefSeq protein NP 000082NP 031760Location UCSC Chr 2 227 16 227 31 MbChr 1 82 56 82 7 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseType IV collagen the major structural component of basement membranes is a multimeric protein composed of 3 alpha subunits this gene encodes the alpha 3 subunit These subunits are encoded by 6 different genes alpha 1 through alpha 6 each of which can form a triple helix structure with 2 other subunits to form type IV collagen In Goodpasture s syndrome autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli The epitopes that elicit these autoantibodies are localized largely to the non collagenous C terminal domain of the protein A specific kinase phosphorylates amino acids in this same C terminal region and the expression of this kinase is upregulated during pathogenesis There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C terminal domain This gene is also linked to an autosomal recessive form of Alport syndrome The mutations contributing to this syndrome are also located within the exons that encode this C terminal region Like the other members of the type IV collagen gene family this gene is organized in a head to head conformation with another type IV collagen gene so that each gene pair shares a common promoter Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand 6 Disease Database editLOVD Alport gene variant databases COL4A3 COL4A4 COL4A5 References edit a b c GRCh38 Ensembl release 89 ENSG00000169031 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000079465 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Turner N Mason PJ Brown R Fox M Povey S Rees A Pusey CD Mar 1992 Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen J Clin Invest 89 2 592 601 doi 10 1172 JCI115625 PMC 442892 PMID 1737849 a b Entrez Gene COL4A3 collagen type IV alpha 3 Goodpasture antigen Further reading editHinek A 1995 Nature and the multiple functions of the 67 kD elastin laminin binding protein Cell Adhes Commun 2 3 185 93 doi 10 3109 15419069409004436 PMID 7827955 Stander M Naumann U Wick W Weller M 1999 Transforming growth factor beta and p 21 multiple molecular targets of decorin mediated suppression of neoplastic growth Cell Tissue Res 296 2 221 7 doi 10 1007 s004410051283 PMID 10382266 S2CID 20282995 Kurpakus Wheater M Kernacki KA Hazlett LD 1999 Corneal cell proteins and ocular surface pathology Biotechnic amp Histochemistry 74 3 146 59 doi 10 3109 10520299909047967 PMID 10416788 Pescucci C Longo I Bruttini M et al 2003 Type IV collagen related diseases J Nephrol 16 2 314 6 PMID 12768082 Torra R Tazon Vega B Ars E Ballarin J 2005 Collagen type IV alpha3 alpha4 nephropathy from isolated haematuria to renal failure Nephrol Dial Transplant 19 10 2429 32 doi 10 1093 ndt gfh435 PMID 15280517 Rana K Wang YY Buzza M et al 2005 The genetics of thin basement membrane nephropathy Semin Nephrol 25 3 163 70 doi 10 1016 j semnephrol 2005 01 008 PMID 15880327 Maziers N Dahan K Pirson Y 2006 From Alport syndrome to benign familial hematuria clinical and genetic aspect Nephrol Ther 1 2 90 100 doi 10 1016 j nephro 2005 03 005 PMID 16895672 Ghebrehiwet B Peerschke EI Hong Y et al 1992 Short amino acid sequences derived from C1q receptor C1q R show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV J Leukoc Biol 51 6 546 56 doi 10 1002 jlb 51 6 546 PMID 1377218 S2CID 1214598 Quinones S Bernal D Garcia Sogo M et al 1992 Exon intron structure of the human alpha 3 IV gene encompassing the Goodpasture antigen alpha 3 IV NC1 Identification of a potentially antigenic region at the triple helix NC1 domain junction J Biol Chem 267 28 19780 4 doi 10 1016 S0021 9258 19 88621 0 PMID 1400291 Gupta S Batchu RB Datta K 1992 Purification partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface Eur J Cell Biol 56 1 58 67 PMID 1724753 Morrison KE Mariyama M Yang Feng TL Reeders ST 1991 Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen Am J Hum Genet 49 3 545 54 PMC 1683122 PMID 1882840 Hernandez MR Igoe F Neufeld AH 1986 Extracellular matrix of the human optic nerve head Am J Ophthalmol 102 2 139 48 doi 10 1016 0002 9394 86 90134 0 PMID 2426947 Griffin CA Emanuel BS Hansen JR et al 1987 Human collagen genes encoding basement membrane alpha 1 IV and alpha 2 IV chains map to the distal long arm of chromosome 13 Proc Natl Acad Sci U S A 84 2 512 6 Bibcode 1987PNAS 84 512G doi 10 1073 pnas 84 2 512 PMC 304239 PMID 3025878 Murata K Motayama T Kotake C 1986 Collagen types in various layers of the human aorta and their changes with the atherosclerotic process Atherosclerosis 60 3 251 62 doi 10 1016 0021 9150 86 90172 3 PMID 3089234 Glant TT Hadhazy C Mikecz K Sipos A 1985 Appearance and persistence of fibronectin in cartilage Specific interaction of fibronectin with collagen type II Histochemistry 82 2 149 58 doi 10 1007 bf00708199 PMID 3997552 S2CID 19401258 Uscanga L Kennedy RH Stocker S et al 1984 Immunolocalization of collagen types laminin and fibronectin in the normal human pancreas Digestion 30 3 158 64 doi 10 1159 000199100 PMID 6389236 Sundarraj N Willson J 1982 Monoclonal antibody to human basement membrane collagen type IV Immunology 47 1 133 40 PMC 1555500 PMID 6811420 Hahn E Wick G Pencev D Timpl R 1980 Distribution of basement membrane proteins in normal and fibrotic human liver collagen type IV laminin and fibronectin Gut 21 1 63 71 doi 10 1136 gut 21 1 63 PMC 1419572 PMID 6988303 Singhal PC Sharma P Garg P 1996 HIV 1 gp160 protein macrophage interactions modulate mesangial cell proliferation and matrix synthesis Am J Pathol 147 6 1780 9 PMC 1869951 PMID 7495302 Retrieved from https en wikipedia org w index php title Collagen type IV alpha 3 amp oldid 1215775782, wikipedia, wiki, book, books, library,
