COL5A1

COL5A1

Collagen, type V, alpha 1, also known as COL5A1, is a human gene.cite web | title = Entrez Gene: COL5A1 collagen, type V, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1289| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.cite web | title = Entrez Gene: COL5A1 collagen, type V, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1289| accessdate = ]

ee also

* Type-V collagen

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mann K |title=Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. |journal=Biol. Chem. Hoppe-Seyler |volume=373 |issue= 2 |pages= 69–75 |year= 1992 |pmid= 1571108 |doi=
*cite journal | author=Greenspan DS, Byers MG, Eddy RL, "et al." |title=Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. |journal=Genomics |volume=12 |issue= 4 |pages= 836–7 |year= 1992 |pmid= 1572660 |doi=
*cite journal | author=Greenspan DS, Cheng W, Hoffman GG |title=The pro-alpha 1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha 1(XI) collagen chain. |journal=J. Biol. Chem. |volume=266 |issue= 36 |pages= 24727–33 |year= 1992 |pmid= 1722213 |doi=
*cite journal | author=Takahara K, Sato Y, Okazawa K, "et al." |title=Complete primary structure of human collagen alpha 1 (V) chain. |journal=J. Biol. Chem. |volume=266 |issue= 20 |pages= 13124–9 |year= 1991 |pmid= 2071595 |doi=
*cite journal | author=Yaoi Y, Hashimoto K, Koitabashi H, "et al." |title=Primary structure of the heparin-binding site of type V collagen. |journal=Biochim. Biophys. Acta |volume=1035 |issue= 2 |pages= 139–45 |year= 1990 |pmid= 2203476 |doi=
*cite journal | author=Seyer JM, Kang AH |title=Covalent structure of collagen: amino acid sequence of three cyanogen bromide-derived peptides from human alpha 1(V) collagen chain. |journal=Arch. Biochem. Biophys. |volume=271 |issue= 1 |pages= 120–9 |year= 1989 |pmid= 2496661 |doi=
*cite journal | author=Niyibizi C, Fietzek PP, van der Rest M |title=Human placenta type V collagens. Evidence for the existence of an alpha 1(V) alpha 2(V) alpha 3(V) collagen molecule. |journal=J. Biol. Chem. |volume=259 |issue= 22 |pages= 14170–4 |year= 1984 |pmid= 6501291 |doi=
*cite journal | author=Mumby SM, Raugi GJ, Bornstein P |title=Interactions of thrombospondin with extracellular matrix proteins: selective binding to type V collagen. |journal=J. Cell Biol. |volume=98 |issue= 2 |pages= 646–52 |year= 1984 |pmid= 6693501 |doi=
*cite journal | author=Rhodes RK, Miller EJ |title=Evidence for the existence of an alpha 1(V) alpha 2(V) alpha 3(V) collagen molecule in human placental tissue. |journal=Coll. Relat. Res. |volume=1 |issue= 4 |pages= 337–43 |year= 1982 |pmid= 7346227 |doi=
*cite journal | author=Lee S, Greenspan DS |title=Transcriptional promoter of the human alpha 1(V) collagen gene (COL5A1). |journal=Biochem. J. |volume=310 ( Pt 1) |issue= |pages= 15–22 |year= 1995 |pmid= 7646438 |doi=
*cite journal | author=Moradi-Améli M, Rousseau JC, Kleman JP, "et al." |title=Diversity in the processing events at the N-terminus of type-V collagen. |journal=Eur. J. Biochem. |volume=221 |issue= 3 |pages= 987–95 |year= 1994 |pmid= 8181482 |doi=
*cite journal | author=Takahara K, Hoffman GG, Greenspan DS |title=Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. |journal=Genomics |volume=29 |issue= 3 |pages= 588–97 |year= 1996 |pmid= 8575750 |doi= 10.1006/geno.1995.9961
*cite journal | author=De Paepe A, Nuytinck L, Hausser I, "et al." |title=Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. |journal=Am. J. Hum. Genet. |volume=60 |issue= 3 |pages= 547–54 |year= 1997 |pmid= 9042913 |doi=
*cite journal | author=Tillet E, Ruggiero F, Nishiyama A, Stallcup WB |title=The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. |journal=J. Biol. Chem. |volume=272 |issue= 16 |pages= 10769–76 |year= 1997 |pmid= 9099729 |doi=
*cite journal | author=Sasaki T, Brakebusch C, Engel J, Timpl R |title=Mac-2 binding protein is a cell-adhesive protein of the extracellular matrix which self-assembles into ring-like structures and binds beta1 integrins, collagens and fibronectin. |journal=EMBO J. |volume=17 |issue= 6 |pages= 1606–13 |year= 1998 |pmid= 9501082 |doi= 10.1093/emboj/17.6.1606
*cite journal | author=Wu YL, Sumiyoshi H, Khaleduzzaman M, "et al." |title=cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1). |journal=Biochim. Biophys. Acta |volume=1397 |issue= 3 |pages= 275–84 |year= 1998 |pmid= 9582436 |doi=
*cite journal | author=Burrows NP, Nicholls AC, Richards AJ, "et al." |title=A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. |journal=Am. J. Hum. Genet. |volume=63 |issue= 2 |pages= 390–8 |year= 1998 |pmid= 9683580 |doi=
*cite journal | author=Aho S, Uitto J |title=Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1. |journal=Matrix Biol. |volume=17 |issue= 6 |pages= 401–12 |year= 1999 |pmid= 9840442 |doi=
*cite journal | author=Giunta C, Steinmann B |title=Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? |journal=Am. J. Med. Genet. |volume=90 |issue= 1 |pages= 72–9 |year= 2000 |pmid= 10602121 |doi=
*cite journal | author=Imamura Y, Scott IC, Greenspan DS |title=The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 8749–59 |year= 2000 |pmid= 10722718 |doi=

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