Collagen, type IV, alpha 5 explained

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

• Collagen
• Type-IV collagen
• Alport syndrome

Further reading

• Lemmink HH, Schröder CH, Monnens LA, Smeets HJ . The clinical spectrum of type IV collagen mutations . Hum. Mutat. . 9 . 6 . 477–99 . 1997 . 9195222 . 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-# . 2066/25010 . 196601220 . free .
• Ständer M, Naumann U, Wick W, Weller M . Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth . Cell Tissue Res. . 296 . 2 . 221–7 . 1999 . 10382266 . 10.1007/s004410051283 . 20282995 .
• Kurpakus Wheater M, Kernacki KA, Hazlett LD . Corneal cell proteins and ocular surface pathology . Biotechnic & Histochemistry . 74 . 3 . 146–59 . 1999 . 10416788 . 10.3109/10520299909047967.
• Zhou J, Hertz JM, Leinonen A, Tryggvason K . 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 . 1992 . 10.1016/S0021-9258(18)42301-0 . 1352287 . free .
• Renieri A . De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome . Hum. Mol. Genet. . 1 . 2 . 127–9 . 1993 . 1363780 . 10.1093/hmg/1.2.127 . vanc. Seri M . Myers JC . 3 . Pihlajaniemi . Taina . Massella . Laura . Rizzoni . Gianfranco . Marchi . Mario De .
• Knebelmann B . 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 . 1992 . 1376965 . 1682875 . vanc. Deschenes G . Gros F . 3 . Hors . MC . Grünfeld . JP . Zhou . J . Tryggvason . K . Gubler . MC . Antignac . C .
• Ghebrehiwet B . 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 . 1992 . 1377218 . 10.1002/jlb.51.6.546. vanc. Peerschke EI . Hong Y . 3 . Munoz . P . Gorevic . PD . 1214598 .
• Zhou J . Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome . Genomics . 9 . 1 . 10–8 . 1991 . 1672282 . 10.1016/0888-7543(91)90215-Z . vanc. Barker DF . Hostikka SL . 3 . Gregory . Martin C. . Atkin . Curtis L. . Tryggvason . Karl .
• Hostikka SL . 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 . 1990 . 1689491 . 10.1073/pnas.87.4.1606 . 53524 . vanc. Eddy RL . Byers MG . 3 . Höyhtyä . M . Shows . TB . Tryggvason . K . 1990PNAS...87.1606H . free .
• Gupta S, Batchu RB, Datta K . 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 . 1992 . 1724753 .
• Zhou J, Hostikka SL, Chow LT, Tryggvason K . 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 . 1991 . 2004755 . 10.1016/0888-7543(91)90214-Y .
• Myers JC . 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 . 1990 . 2339699 . 1683837 . vanc. Jones TA . Pohjolainen ER . 3 . Kadri . AS . Goddard . AD . Sheer . D . Solomon . E . Pihlajaniemi . T .
• Barker DF . Identification of mutations in the COL4A5 collagen gene in Alport syndrome . Science . 248 . 4960 . 1224–7 . 1990 . 2349482 . 10.1126/science.2349482 . vanc. Hostikka SL . Zhou J . 3 . Chow . L. . Oliphant . A. . Gerken . S. . Gregory . M. . Skolnick . M. . Atkin . C. . 1990Sci...248.1224B .
• Pihlajaniemi T, Pohjolainen ER, Myers JC . 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 . 1990 . 10.1016/S0021-9258(18)77414-0 . 2380186 . free .
• Hernandez MR, Igoe F, Neufeld AH . Extracellular matrix of the human optic nerve head . Am. J. Ophthalmol. . 102 . 2 . 139–48 . 1986 . 2426947 . 10.1016/0002-9394(86)90134-0 .
• Glant TT, Hadházy C, Mikecz K, Sipos A . Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II . Histochemistry . 82 . 2 . 149–58 . 1985 . 3997552 . 10.1007/bf00708199. 19401258 .
• Matsubara T . 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 . 1984 . 6386565 . 10.1159/000163256. vanc. Trüeb B . Fehr K . 3 . Rüttner . JR . Odermatt . BF .
• Uscanga L . Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas . Digestion . 30 . 3 . 158–64 . 1984 . 6389236 . 10.1159/000199100 . vanc. Kennedy RH . Stocker S . 3 . Grimaud . Jean-Alexis . Sarles . Henri .
• Sundarraj N, Willson J . Monoclonal antibody to human basement membrane collagen type IV . Immunology . 47 . 1 . 133–40 . 1982 . 6811420 . 1555500 .
• Hahn E, Wick G, Pencev D, Timpl R . Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin . Gut . 21 . 1 . 63–71 . 1980 . 6988303 . 10.1136/gut.21.1.63 . 1419572 .

Notes and References

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