Collagen Type IV Alpha 5 (COL4a5)

COL4-A5; ASLN; ATS; CA54; Collagen Alpha-5(IV)chain; Alport Syndrome

SPN	U703
HGNC	2207
MGI	88456
PubMed	20574986
RGD	1565499
UniProt	P29400
Wiki	COL4A5

COL4a5 is 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. Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.

Reference

"Structure of the human type IV collagen COL4A5 gene."
J. Biol. Chem. 269:6608-6614(1994) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"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. 267:12475-12481(1992) [PubMed] [Europe PMC] [Abstract]

"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. 265:13758-13766(1990) [PubMed] [Europe PMC] [Abstract]

"Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome."
Genomics 9:1-9(1991) [PubMed] [Europe PMC] [Abstract]

"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. 87:1606-1610(1990) [PubMed] [Europe PMC] [Abstract]

"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. 46:1024-1033(1990) [PubMed] [Europe PMC] [Abstract]

"Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain."
Kidney Int. 44:1316-1321(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells."
Kidney Int. 46:1307-1314(1994) [PubMed] [Europe PMC] [Abstract]

"The clinical spectrum of type IV collagen mutations."
Hum. Mutat. 9:477-499(1997) [PubMed] [Europe PMC] [Abstract]

"Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome."
Genomics 9:10-18(1991) [PubMed] [Europe PMC] [Abstract]

"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. 51:135-142(1992) [PubMed] [Europe PMC] [Abstract]

"De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome."
Hum. Mol. Genet. 1:127-129(1992) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome."
Genomics 17:485-489(1993) [PubMed] [Europe PMC] [Abstract]

"Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors."
Science 261:1167-1169(1993) [PubMed] [Europe PMC] [Abstract]

"Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients."
Hum. Mutat. 5:197-204(1995) [PubMed] [Europe PMC] [Abstract]

"A mutation causing Alport syndrome with tardive hearing loss is common in the western United States."
Am. J. Hum. Genet. 58:1157-1165(1996) [PubMed] [Europe PMC] [Abstract]

"X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene."
Am. J. Hum. Genet. 58:1192-1204(1996) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome."
Am. J. Hum. Genet. 59:1221-1232(1996) [PubMed] [Europe PMC] [Abstract]

"Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome."
Hum. Mutat. 7:149-150(1996) [PubMed] [Europe PMC] [Abstract]

"Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q."
Hum. Genet. 99:681-684(1997) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome."
Hum. Mutat. Suppl. 1:S106-S109(1998) [PubMed] [Europe PMC] [Abstract]

"High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing."
J. Am. Soc. Nephrol. 9:2291-2301(1998) [PubMed] [Europe PMC] [Abstract]

"Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing."
Am. J. Kidney Dis. 34:854-862(1999) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients."
Clin. Genet. 56:242-243(1999) [PubMed] [Europe PMC] [Abstract]

"Detection of mutations in COL4A5 in patients with Alport syndrome."
Hum. Mutat. 13:124-132(1999) [PubMed] [Europe PMC] [Abstract]

"Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene."
Am. J. Ophthalmol. 130:130-131(2000) [PubMed] [Europe PMC] [Abstract]

"Spectrum of COL4A5 mutations in Finnish Alport syndrome patients."
Hum. Mutat. 15:579-579(2000) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of COL4A5 gene in Korean Alport syndrome."
Pediatr. Nephrol. 14:117-121(2000) [PubMed] [Europe PMC] [Abstract]

"Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP."
Am. J. Med. Genet. 98:148-160(2001) [PubMed] [Europe PMC] [Abstract]

"Alport syndrome with diffuse leiomyomatosis."
Am. J. Med. Genet. A 119:381-385(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing."
Mol. Biol. Rep. 41:3631-3635(2014) [PubMed] [Europe PMC] [Abstract]