Biology:Nidogen-1
 Generic protein structure example |
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]
References
- ↑ "Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43". Am. J. Hum. Genet. 44 (6): 876–85. June 1989. PMID 2471408.
- ↑ "Genomic sequences and structural organization of the human nidogen gene (NID)". Genomics 27 (2): 245–50. May 1995. doi:10.1006/geno.1995.1038. PMID 7557988.
- ↑ "Laser scanning confocal examination and comparison of nidogen (entactin) with laminin in term human amniochorion". Placenta 15 (1): 95–106. January 1994. doi:10.1016/S0143-4004(05)80240-1. PMID 8208674.
- ↑ "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. doi:10.1098/rstb.1993.0142. PMID 7904354.
- ↑ "Developmental and pathogenic mechanisms of basement membrane assembly". Curr. Pharm. Des. 15 (12): 1277–94. 2009. doi:10.2174/138161209787846766. PMID 19355968.
- ↑ "Entrez Gene: NID1 nidogen 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4811.
- ↑ "Adhesion of cultured human kidney mesangial cells to native entactin: role of integrin receptors". Cell Adhes. Commun. 5 (3): 237–48. March 1998. doi:10.3109/15419069809040294. PMID 9686320.
- ↑ "OMIM Entry - % 609222 - DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC". https://www.omim.org/entry/609222.
- ↑ 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. doi:10.1002/ajmg.a.61095. ISSN 1552-4833. PMID 30773799.
- ↑ "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. doi:10.1006/jmbi.1997.1244. PMID 9299350.
- ↑ "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. doi:10.1074/jbc.272.36.22600. PMID 9278415.
- ↑ "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. doi:10.1111/j.1432-1033.1993.tb18086.x. PMID 8354280.
Further reading
- "Entactin: structure and function.". Am. J. Respir. Cell Mol. Biol. 3 (4): 275–82. 1990. doi:10.1165/ajrcmb/3.4.275. PMID 2119632.
- "Molecular architecture of basement membranes.". FASEB J. 4 (6): 1577–90. 1990. doi:10.1096/fasebj.4.6.2180767. PMID 2180767.
External links
- Nidogen at the US National Library of Medicine Medical Subject Headings (MeSH)
- Overview of all the structural information available in the PDB for UniProt: P10493 (Mouse Nidogen-1) at the PDBe-KB.
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