COL4A5

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Collagen, type IV, alpha 5 (Alport syndrome)
Identifiers
Symbol(s) COL4A5; ASLN; ATS; CA54; MGC42377
External IDs OMIM: 303630 MGI: 88456 HomoloGene: 22422
Orthologs
Human Mouse
Entrez 1287 12830
Ensembl ENSG00000188153 ENSMUSG00000031274
Uniprot P29400 n/a
Refseq NM_000495 (mRNA)
NP_000486 (protein)		 XM_623033 (mRNA)
XP_623033 (protein)
Location Chr X: 107.57 - 107.83 Mb Chr X: 136.72 - 136.94 Mb
Pubmed search [1] [2]

Collagen, type IV, alpha 5 (Alport syndrome), also known as COL4A5, is a human 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]

[edit] See also

[edit] References

  1. ^ Entrez Gene: COL4A5 collagen, type IV, alpha 5 (Alport syndrome).

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 6389236. 
  • Sundarraj N, Willson J (1982). "Monoclonal antibody to human basement membrane collagen type IV.". Immunology 47 (1): 133–40. 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. PMID 6988303. 
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