Nidogen-1 Explained

Nidogen-1 (NID-1), formerly known as entactin, is a protein that in humans is encoded by the NID1 gene.[1] [2] Both nidogen-1 and nidogen-2 are essential components of the basement membrane alongside other components such as type IV collagen, proteoglycans (heparan sulfate and glycosaminoglycans), laminin[3] and fibronectin.[4]

Function

Nidogen-1 is a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes. Structurally it (along with perlecan) connects the networks formed by collagens and laminins to each other.[5] It may also play a role in cell interactions with the extracellular matrix.[6] [7]

Clinical significance

Mutations in NID1 cause autosomal dominant Dandy–Walker malformation with occipital encephalocele (ADDWOC).[8] [9]

Interactions

Nidogen-1 has been shown to interact with FBLN1.[10] [11] [12]

Further reading

Notes and References

  1. Olsen DR, Nagayoshi T, Fazio M, Mattei MG, Passage E, Weil D, Timpl R, Chu ML, Uitto J . Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43 . Am. J. Hum. Genet. . 44 . 6 . 876–85 . June 1989 . 2471408 . 1715653 .
  2. Zimmermann K, Hoischen S, Hafner M, Nischt R . Genomic sequences and structural organization of the human nidogen gene (NID) . Genomics . 27 . 2 . 245–50 . May 1995 . 7557988 . 10.1006/geno.1995.1038 .
  3. Smith J, Ockleford CD . Laser scanning confocal examination and comparison of nidogen (entactin) with laminin in term human amniochorion . Placenta . 15 . 1 . 95–106 . January 1994 . 8208674 . 10.1016/S0143-4004(05)80240-1 .
  4. Ockleford CD, Bright N, Hubbard A, D'Lacey C, Smith J, Gardiner L, Sheikh T, Albentosa M, Turtle K . Micro-Trabeculae, Macro-Plaques or Mini-Basement Membranes in Human Term Fetal Membranes? . Phil. Trans. R. Soc. Lond. B . 342 . 1300 . 121–136 . October 1993 . 7904354. 10.1098/rstb.1993.0142 .
  5. Yurchenco PD, Patton BL . Developmental and pathogenic mechanisms of basement membrane assembly . Curr. Pharm. Des. . 15 . 12 . 1277–94 . 2009 . 19355968 . 2978668 . 10.2174/138161209787846766.
  6. Web site: Entrez Gene: NID1 nidogen 1.
  7. Yi XY, Wayner EA, Kim Y, Fish AJ . Adhesion of cultured human kidney mesangial cells to native entactin: role of integrin receptors . Cell Adhes. Commun. . 5 . 3 . 237–48 . March 1998 . 9686320 . 10.3109/15419069809040294.
  8. Web site: OMIM Entry - % 609222 - DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC. www.omim.org. 2020-01-06.
  9. McNiven. Vanda. Ito. Yoko A.. Hartley. Taila. Kernohan. Kristin. Miller. Elka. Care4Rare Canada. Armour. Christine M.. May 2019. NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes. American Journal of Medical Genetics. Part A. 179. 5. 837–841. 10.1002/ajmg.a.61095. 1552-4833. 30773799. 73507129.
  10. Adam S, Göhring W, Wiedemann H, Chu ML, Timpl R, Kostka G . Binding of fibulin-1 to nidogen depends on its C-terminal globular domain and a specific array of calcium-binding epidermal growth factor-like (EG) modules . J. Mol. Biol. . 272 . 2 . 226–36 . September 1997 . 9299350 . 10.1006/jmbi.1997.1244 .
  11. Tran H, VanDusen WJ, Argraves WS . The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains . J. Biol. Chem. . 272 . 36 . 22600–6 . September 1997 . 9278415 . 10.1074/jbc.272.36.22600. free .
  12. Pan TC, Kluge M, Zhang RZ, Mayer U, Timpl R, Chu ML . Sequence of extracellular mouse protein BM-90/fibulin and its calcium-dependent binding to other basement-membrane ligands . Eur. J. Biochem. . 215 . 3 . 733–40 . August 1993 . 8354280 . 10.1111/j.1432-1033.1993.tb18086.x. free .

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