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Collagen Type V Alpha 1 (COL5a1)

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COL5-A1; Collagen Alpha-1(V)chain

Collagen Type V Alpha 1 (COL5a1)
CCC C153
HGNC 2209
MGI 88457
PubMed 8923000
RGD 70920
UniProt P20908
Wiki COL5A1

Collagen alpha-1(V) chain is 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type V Alpha 1 (COL5a1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type V Alpha 1 (COL5a1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type V Alpha 1 (COL5a1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type V Alpha 1 (COL5a1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type V Alpha 1 (COL5a1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type V Alpha 1 (COL5a1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Type V Alpha 1 (COL5a1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Type V Alpha 1 (COL5a1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Type V Alpha 1 (COL5a1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type V Alpha 1 (COL5a1) ELISA Kit Customized Service Offer
  1. "Complete primary structure of human collagen alpha 1 (V) chain."J. Biol. Chem. 266:13124-13129(1991) [PubMed] [Europe PMC] [Abstract]
  2. "The pro-alpha-1(V) collagen chain: complete primary structure, distribution of expression, and comparison with the pro-alpha-1(XI) collagen chain."J. Biol. Chem. 266:24727-24733(1991) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Covalent structure of collagen: amino acid sequence of three cyanogen bromide-derived peptides from human alpha 1(V) collagen chain."Arch. Biochem. Biophys. 271:120-129(1989) [PubMed] [Europe PMC] [Abstract]
  5. "Primary structure of the heparin-binding site of type V collagen."Biochim. Biophys. Acta 1035:139-145(1990) [PubMed] [Europe PMC] [Abstract]
  6. "Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing."Biol. Chem. Hoppe-Seyler 373:69-75(1992) [PubMed] [Europe PMC] [Abstract]
  7. "Diversity in the processing events at the N-terminus of type-V collagen."Eur. J. Biochem. 221:987-995(1994) [PubMed] [Europe PMC] [Abstract]
  8. "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein."J. Biol. Chem. 272:10769-10776(1997) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II."Am. J. Hum. Genet. 60:547-554(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections."Stroke 30:1887-1890(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Compound heterozygosity for a disease-causing G1489E and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?"Am. J. Med. Genet. 90:72-79(2000) [PubMed] [Europe PMC] [Abstract]
  12. ErratumAm. J. Med. Genet. 93:342-342(2000)
  13. "Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome."Am. J. Med. Genet. 109:284-290(2002) [PubMed] [Europe PMC] [Abstract]
  14. "The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients."Hum. Mutat. 25:28-37(2005) [PubMed] [Europe PMC] [Abstract]
  15. "COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome."Hum. Mutat. 30:E395-E403(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]