Gene Symbol: Col5a1
Description: collagen, type V, alpha 1
Alias: AI413331, collagen alpha-1(V) chain, alpha1(V) collagen, pro-alpha1(V) collagen, procollagen type V alpha 1
Species: mouse
Products:     Col5a1

Top Publications

  1. Sakata Takatani K, Matsuo N, Sumiyoshi H, Tsuda T, Yoshioka H. Identification of a functional CBF-binding CCAAT-like motif in the core promoter of the mouse pro-alpha 1(V) collagen gene (Col5a1). Matrix Biol. 2004;23:87-99 pubmed
    ..of the core promoter region to elucidate the transcriptional features of the mouse alpha 1(V) collagen gene (Col5a1)...
  2. Park A, Phillips C, Pfeiffer F, Roenneburg D, Kernien J, Adams S, et al. Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. Am J Pathol. 2015;185:2000-11 pubmed publisher
    Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints...
  3. Soto Suazo M, San Martin S, Zorn T. Collagen and tenascin-C expression along the migration pathway of mouse primordial germ cells. Histochem Cell Biol. 2004;121:149-53 pubmed
    ..Our results complement previous data from our laboratory and contribute to building comprehension of the composition of the mouse PGC migratory pathway extracellular matrix, thereby enhancing understanding of the process. ..
  4. Greenspan D, Northrup H, Au K, McAllister K, Francomano C, Wenstrup R, et al. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics. 1995;25:737-9 pubmed
    b>COL5A1, the gene for the alpha 1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype...
  5. Koch M, Laub F, Zhou P, Hahn R, Tanaka S, Burgeson R, et al. Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone. J Biol Chem. 2003;278:43236-44 pubmed
    ..Based on these data, we propose that collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development. ..
  6. Touhata K, Tanaka H, Yokoyama Y, Sakaguchi M, Toyohara H. Structure of a full-length cDNA clone for the pro-alpha1(V/XI) collagen chain of red seabream. Biochim Biophys Acta. 2001;1517:323-6 pubmed
    ..On the other hand, tissue distribution of rsCOL resembles that of type V collagen based on RT-PCR analysis. This is the first report of the cloning of the full-length cDNA of type V/XI collagen alpha1 chain from fish. ..
  7. Peacock J, Lu Y, Koch M, Kadler K, Lincoln J. Temporal and spatial expression of collagens during murine atrioventricular heart valve development and maintenance. Dev Dyn. 2008;237:3051-8 pubmed publisher
    ..Together, these expression data identify patterning of collagen types in developing and maintained heart valves, which likely relate to valve structure and function. ..
  8. Gopalakrishnan B, Wang W, Greenspan D. Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer. J Biol Chem. 2004;279:30904-12 pubmed
  9. Wenstrup R, Florer J, Brunskill E, Bell S, Chervoneva I, Birk D. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem. 2004;279:53331-7 pubmed
    ..Mouse embryos completely deficient in pro-alpha1(V) chains were created by homologous recombination. The col5a1-/- animals die in early embryogenesis, at approximately embryonic day 10...

More Information


  1. Somasundaram R, Schuppan D. Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB). J Biol Chem. 1996;271:26884-91 pubmed
    ..Our data are in accord with previous studies that localized PDGF in the extracellular matrix of fibroproliferative lesions and suggest that binding of PDGF to collagens may localize and modulate its biological activities. ..
  2. Mattei M, Bruce B, Karsenty G. Mouse alpha 1 type V collagen gene maps to the [A2-B] region of chromosome 2. Genomics. 1993;16:786-8 pubmed
  3. Pilz A, Prohaska R, Peters J, Abbott C. Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q. Genomics. 1994;21:104-9 pubmed
    The genes for adenylate kinase-1 (AK1), folyl polyglutamate synthetase (FPGS), the collagen pro alpha 1(V) chain (COL5A1), erythrocyte protein band 7...
  4. Wenstrup R, Florer J, Davidson J, Phillips C, Pfeiffer B, Menezes D, et al. Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. J Biol Chem. 2006;281:12888-95 pubmed
    ..tissue biogenesis observed in EDS, we analyzed mice heterozygous for a targeted inactivating mutation in col5a1 that caused 50% reduction in col5a1 mRNA and collagen V...
  5. Lincoln J, Florer J, Deutsch G, Wenstrup R, Yutzey K. ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn. 2006;235:3295-305 pubmed
  6. Roulet M, Ruggiero F, Karsenty G, LeGuellec D. A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: a clue for understanding collagen V function in developing connective tissues. Cell Tissue Res. 2007;327:323-32 pubmed
    ..At 10.5 dpc, col5a1 expression was found in the heart, dorsal aorta wall, branchial arches, mesonephrotic tubules, and intestinal ..
  7. Hamada Y, Sumiyoshi H, Matsuo N, Yun Feng W, Nakashima M, Yanagisawa S, et al. The pro-alpha2(XI) collagen gene is expressed in odontoblasts. Biochem Biophys Res Commun. 2010;392:166-70 pubmed publisher
    ..The data suggest a new subtype of the V/XI collagen molecule containing alpha2(XI) chain. ..
  8. Dart M, Jankowska Gan E, Huang G, Roenneburg D, Keller M, Torrealba J, et al. Interleukin-17-dependent autoimmunity to collagen type V in atherosclerosis. Circ Res. 2010;107:1106-16 pubmed publisher
    ..Because specific induction of ?1(V) chains has previously been reported in human atheromas, we postulated involvement of col(V) autoimmunity in atherosclerosis...
  9. Wenstrup R, Smith S, Florer J, Zhang G, Beason D, Seegmiller R, et al. Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon. J Biol Chem. 2011;286:20455-65 pubmed publisher
    ..This suggested roles for other related molecules, i.e. collagen XI, and compound Col5a1(+/-),Col11a1(+/-) tendons had altered fibril structures, supporting a role for collagen XI...
  10. Smith S, Zhang G, Birk D. Collagen V localizes to pericellular sites during tendon collagen fibrillogenesis. Matrix Biol. 2014;33:47-53 pubmed publisher
    ..This all points to differential spatial localization of collagen V as a mechanism to optimize its regulatory roles during the cell-surface directed steps in tendon collagen fibril assembly. ..
  11. Yoshioka H, Iyama K, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Ramirez F. Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1). Dev Dyn. 1995;204:41-7 pubmed
    ..This finding raises the possibility that the alpha 1(XI) chain may participate in the formation of stage- and tissue-specific trimers with distinct functional properties. ..
  12. Smyth I, Du X, Taylor M, Justice M, Beutler B, Jackson I. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci U S A. 2004;101:13560-5 pubmed
  13. Darwich R, Li W, Yamak A, Komati H, Andelfinger G, Sun K, et al. KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. Hum Mol Genet. 2017;26:942-954 pubmed publisher
    ..The data also suggest that, in human, KLF13 may be a genetic modifier of the Holt-Oram Syndrome gene TBX5. ..
  14. Nakamichi R, Ito Y, Inui M, Onizuka N, Kayama T, Kataoka K, et al. Mohawk promotes the maintenance and regeneration of the outer annulus fibrosus of intervertebral discs. Nat Commun. 2016;7:12503 pubmed publisher
    ..Mesenchymal stem cells overexpressing Mkx promote functional AF regeneration in a mouse AF defect model, with abundant collagen fibril formation. Our results indicate a therapeutic strategy for AF regeneration. ..
  15. Yamaguchi K, Matsuo N, Sumiyoshi H, Fujimoto N, Iyama K, Yanagisawa S, et al. Pro-alpha3(V) collagen chain is expressed in bone and its basic N-terminal peptide adheres to osteosarcoma cells. Matrix Biol. 2005;24:283-94 pubmed
    ..Our data suggested that N-terminal globular domain of the pro-alpha3(V) chain influence bone formation of osteoblasts through proteoglycan on the cell surface during development or regeneration. ..
  16. Ellis L, Warner D, Greene R, Pisano M. Interaction of Smads with collagen types I, III, and V. Biochem Biophys Res Commun. 2003;310:1117-23 pubmed
    ..Moreover, TGFbeta is a potent regulator of collagen synthesis and turnover during mammalian orofacial development. These data thus suggest an important means of feedback regulation of the TGFbeta signaling cascade. ..
  17. Chernousov M, Rothblum K, Tyler W, Stahl R, Carey D. Schwann cells synthesize type V collagen that contains a novel alpha 4 chain. Molecular cloning, biochemical characterization, and high affinity heparin binding of alpha 4(V) collagen. J Biol Chem. 2000;275:28208-15 pubmed
    ..The restricted expression and unusual properties of alpha4(V)-containing collagen type V molecules suggest a unique and important role for these molecules in peripheral nerve development. ..
  18. DeNigris J, Yao Q, Birk E, Birk D. Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome. Connect Tissue Res. 2016;57:1-9 pubmed publisher
    ..A haploinsufficient Col5a1(+/-) mouse model of EDS was utilized...
  19. Spiess K, Teodoro W, Zorn T. Distribution of collagen types I, III, and V in pregnant mouse endometrium. Connect Tissue Res. 2007;48:99-108 pubmed
    ..These data support previous studies that showed an intense ECM remodeling of the mouse endometrial stroma during the beginning of pregnancy. This outstanding remodeling may be important to stabilize placental anchorage. ..
  20. Toriello H, Glover T, Takahara K, Byers P, Miller D, Higgins J, et al. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet. 1996;13:361-5 pubmed
    ..translocation between chromosome 9 and an X chromosome that disrupts the minor fibrillar collagen type V gene COL5A1 in a patient with both EDS type I and hypomelanosis of Ito...
  21. Arai K, Nishiyama T. Developmental changes in extracellular matrix messenger RNAs in the mouse placenta during the second half of pregnancy: possible factors involved in the regulation of placental extracellular matrix expression. Biol Reprod. 2007;77:923-33 pubmed
    Expression of procollagens (Col1a1/2, Col3a1, Col4a1/2, Col5a1/2) and fibronectin 1 (Fn1) in the mouse fetal placental tissue was examined during the second half of pregnancy...
  22. Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed
    ..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
  23. Sun M, Connizzo B, Adams S, Freedman B, Wenstrup R, Soslowsky L, et al. Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. Am J Pathol. 2015;185:1436-47 pubmed publisher
    ..A conditional Col5a1(flox/flox) mouse model was bred with Scleraxis-Cre mice to create a targeted tendon and ligament Col5a1-null mouse ..
  24. Kasahara M, Hayashi M, Tanaka K, Inoko H, Sugaya K, Ikemura T, et al. Chromosomal localization of the proteasome Z subunit gene reveals an ancient chromosomal duplication involving the major histocompatibility complex. Proc Natl Acad Sci U S A. 1996;93:9096-101 pubmed
    ..3 and 9q33-q34). These observations have implications in understanding the genomic organization of the present-day MHC and offer insights into the origin of the MHC. ..
  25. Lee M, Yutzey K. Twist1 directly regulates genes that promote cell proliferation and migration in developing heart valves. PLoS ONE. 2011;6:e29758 pubmed publisher
  26. Liu W, Watson S, Lan Y, Keene D, Ovitt C, Liu H, et al. The atypical homeodomain transcription factor Mohawk controls tendon morphogenesis. Mol Cell Biol. 2010;30:4797-807 pubmed publisher
    ..In addition to defects in tendon collagen fibrillogenesis, Mkx(-/-) mutant mice exhibited abnormal tendon sheaths. These results identify Mkx as an important regulator of tendon development. ..
  27. Turner C, Badu Nkansah K, Crowley D, van der Flier A, Hynes R. α5 and αv integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo. Development. 2015;142:797-808 pubmed publisher
    ..Analysis of cultured α5/αv-deficient vSMCs suggests that this is achieved, at least in part, through proper assembly of RGD-containing extracellular matrix proteins and the correct incorporation and activation of latent TGF-β. ..
  28. Loughlin J, Irven C, Hardwick L, Butcher S, Walsh S, Wordsworth P, et al. Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Hum Mol Genet. 1995;4:1649-51 pubmed
    ..Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II...
  29. Caubit X, Gubellini P, Andrieux J, Roubertoux P, Metwaly M, Jacq B, et al. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nat Genet. 2016;48:1359-1369 pubmed publisher
    ..These findings highlight essential roles for Tshz3 in CPN development and function, whose alterations can account for ASD in the newly defined TSHZ3 deletion syndrome. ..
  30. Magenheim J, Klein A, Stanger B, Ashery Padan R, Sosa Pineda B, Gu G, et al. Ngn3(+) endocrine progenitor cells control the fate and morphogenesis of pancreatic ductal epithelium. Dev Biol. 2011;359:26-36 pubmed publisher
    ..These results uncover a novel layer of regulation coordinating pancreas morphogenesis and endocrine/exocrine differentiation, and suggest ways to enhance the yield of beta cells from stem cells. ..
  31. Chambers D, Wilson L, Alfonsi F, Hunter E, Saxena U, Blanc E, et al. Rhombomere-specific analysis reveals the repertoire of genetic cues expressed across the developing hindbrain. Neural Dev. 2009;4:6 pubmed publisher
    ..These findings give the first genome-wide insight into the complexity of gene expression during patterning of the developing hindbrain. ..
  32. Aberg T, Rice R, Rice D, Thesleff I, Waltimo Siren J. Chondrogenic potential of mouse calvarial mesenchyme. J Histochem Cytochem. 2005;53:653-63 pubmed
    ..Only cartilage formed in 4%, and both cartilage and bone formed in 4%. Our study confirms that calvarial mesenchyme, which normally gives rise to intramembranous bone, also has chondrogenic potential. ..
  33. Bhattacharya G, Kalluri R, Orten D, Kimberling W, Cosgrove D. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J Cell Sci. 2004;117:233-42 pubmed
    ..Thus, the domain-specific interaction between usherin and type IV collagen appears essential to usherin stability in vivo, and loss of this interaction may result in Usher pathology in humans. ..
  34. Sun M, Chen S, Adams S, Florer J, Liu H, Kao W, et al. Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model. J Cell Sci. 2011;124:4096-105 pubmed publisher
    ..A conditional mouse model with a mutation in Col5a1 was developed using a Cre-loxP approach...
  35. Wu Y, Matsuo N, Sumiyoshi H, Yoshioka H. Sp7/Osterix is involved in the up-regulation of the mouse pro-?1(V) collagen gene (Col5a1) in osteoblastic cells. Matrix Biol. 2010;29:701-6 pubmed publisher
    ..Previous studies have identified a Sp1binding site in the proximal promoter region of the mouse Col5a1 gene, but it did not activate or repress this gene in a mouse fibroblast cell line and a human rhabdomyosarcoma ..
  36. Wu Y, Sumiyoshi H, Khaleduzzaman M, Ninomiya Y, Yoshioka H. cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1). Biochim Biophys Acta. 1998;1397:275-84 pubmed
    Several overlapping cDNA clones corresponding to the entire coding sequence of the mouse alpha1(V) collagen gene (Col5a1) were isolated...
  37. Fernandes R, Weis M, Scott M, Seegmiller R, Eyre D. Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol. 2007;26:597-603 pubmed
  38. Imamura Y, Scott I, Greenspan D. 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. J Biol Chem. 2000;275:8749-59 pubmed
    ..COL5A3 is mapped to 19p13.2 near a polymorphic marker that should be useful in analyzing linkage with EDS and other disease phenotypes. ..
  39. Kahai S, Vary C, Gao Y, Seth A. Collagen, type V, alpha1 (COL5A1) is regulated by TGF-beta in osteoblasts. Matrix Biol. 2004;23:445-55 pubmed
    ..From the 120 differentially expressed genes, we selected Collagen, type V, alpha1 (COL5A1) {differential expression=+4...