COL4A5
From Wikipedia, the free encyclopedia
| Collagen, type IV, alpha 5 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | COL4A5; ASLN; ATS; CA54 | ||||||||||||
| External IDs | OMIM: 303630 MGI: 88456 HomoloGene: 22422 GeneCards: COL4A5 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1287 | 12830 | |||||||||||
| Ensembl | ENSG00000188153 | ENSMUSG00000031274 | |||||||||||
| UniProt | P29400 | Q63ZW6 | |||||||||||
| RefSeq (mRNA) | NM_000495 | NM_001163155 | |||||||||||
| RefSeq (protein) | NP_000486 | NP_001156627 | |||||||||||
| Location (UCSC) | Chr X: 107.68 – 107.94 Mb | Chr X: 141.48 – 141.69 Mb | |||||||||||
| PubMed search | |||||||||||||
Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Three transcript variants have been identified for this gene.[1]
Disease Databases
ARUP COL4A5 gene variant database
LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)
See also
References
Further reading
- Lemmink HH, Schröder CH, Monnens LA, Smeets HJ (1997). "The clinical spectrum of type IV collagen mutations.". Hum. Mutat. 9 (6): 477–99. doi:10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. PMID 9195222.
- 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.
- Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology.". Biotechnic & histochemistry : official publication of the Biological Stain Commission 74 (3): 146–59. PMID 10416788.
- Zhou J, Hertz JM, Leinonen A, Tryggvason K (1992). "Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.". J. Biol. Chem. 267 (18): 12475–81. PMID 1352287.
- Renieri A, Seri M, Myers JC et al. (1993). "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome". Hum. Mol. Genet. 1 (2): 127–9. doi:10.1093/hmg/1.2.127. PMID 1363780.
- Knebelmann B, Deschenes G, Gros F et al. (1992). "Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments". Am. J. Hum. Genet. 51 (1): 135–42. PMC 1682875. PMID 1376965.
- 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. PMID 1377218.
- Zhou J, Barker DF, Hostikka SL et al. (1991). "Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome". Genomics 9 (1): 10–8. doi:10.1016/0888-7543(91)90215-Z. PMID 1672282.
- Hostikka SL, Eddy RL, Byers MG et al. (1990). "Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome". Proc. Natl. Acad. Sci. U.S.A. 87 (4): 1606–10. doi:10.1073/pnas.87.4.1606. PMC 53524. PMID 1689491.
- 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.
- Zhou J, Hostikka SL, Chow LT, Tryggvason K (1991). "Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome". Genomics 9 (1): 1–9. doi:10.1016/0888-7543(91)90214-Y. PMID 2004755.
- Myers JC, Jones TA, Pohjolainen ER et al. (1990). "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus". Am. J. Hum. Genet. 46 (6): 1024–33. PMC 1683837. PMID 2339699.
- Barker DF, Hostikka SL, Zhou J et al. (1990). "Identification of mutations in the COL4A5 collagen gene in Alport syndrome". Science 248 (4960): 1224–7. doi:10.1126/science.2349482. PMID 2349482.
- Pihlajaniemi T, Pohjolainen ER, Myers JC (1990). "Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)". J. Biol. Chem. 265 (23): 13758–66. PMID 2380186.
- 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.
- 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. PMID 3997552.
- Matsubara T, Trüeb B, Fehr K et al. (1984). "The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen". Exp. Cell Biol. 52 (3): 159–69. PMID 6386565.
- 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.
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