| NID1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NID1 , NID, nidogen 1, entactin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 131390 MGI: 97342 HomoloGene: 1878 GeneCards: NID1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Nidogen-1 (NID-1), formerly known as entactin, is a protein that in humans is encoded by the NID1 gene. [5] [6] 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 [7] and fibronectin. [8]
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. [9] It may also play a role in cell interactions with the extracellular matrix. [10] [11]
Mutations in NID1 cause autosomal dominant Dandy–Walker malformation with occipital encephalocele (ADDWOC). [12] [13]
Nidogen-1 has been shown to interact with FBLN1. [14] [15] [16]
Laminins are a family of glycoproteins of the extracellular matrix of all animals. They are major constituents of the basement membrane, namely the basal lamina. Laminins are vital to biological activity, influencing cell differentiation, migration, and adhesion.
Nidogens, formerly known as entactins, are a family of sulfated monomeric glycoproteins located in the basal lamina of parahoxozoans. Two nidogens have been identified in humans: nidogen-1 (NID1) and nidogen-2 (NID2). Remarkably, vertebrates are still capable of stabilizing basement membrane in the absence of either identified nidogen. In contrast, those lacking both nidogen-1 and nidogen-2 typically die prematurely during embryonic development as a result of defects existing in the heart and lungs. Nidogen have been shown to play a crucial role during organogenesis in late embryonic development, particularly in cardiac and lung development. From an evolutionary perspective, nidogens are highly conserved across vertebrates and invertebrates, retaining their ability to bind laminin.
Fibulin (FY-beau-lin) is the prototypic member of a multigene family, currently with seven members. Fibulin-1 is a calcium-binding glycoprotein. In vertebrates, fibulin-1 is found in blood and extracellular matrices. In the extracellular matrix, fibulin-1 associates with basement membranes and elastic fibers. The association with these matrix structures is mediated by its ability to interact with numerous extracellular matrix constituents including fibronectin, proteoglycans, laminins and tropoelastin. In blood, fibulin-1 binds to fibrinogen and incorporates into clots.
FBLN1 is the gene encoding fibulin-1, an extracellular matrix and plasma protein.
Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.
Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene.
Laminin subunit alpha-5 is a protein that in humans is encoded by the LAMA5 gene.
Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene.
Laminin subunit gamma-2 is a protein that in humans is encoded by the LAMC2 gene.
Laminin subunit alpha-3 is a protein that in humans is encoded by the LAMA3 gene.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Laminin subunit alpha-1 is a protein that in humans is encoded by the LAMA1 gene.
Laminin subunit gamma-1 is a protein that in humans is encoded by the LAMC1 gene.
Laminin subunit beta-1 is a protein that in humans is encoded by the LAMB1 gene.
Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.
Fibulin-2 is a protein that in humans is encoded by the FBLN2 gene.
Laminin subunit beta-2 is a protein that in humans is encoded by the LAMB2 gene.
Nidogen-2, also known as osteonidogen, is a basal lamina protein of the nidogen family. It was the second nidogen to be described after nidogen-1 (entactin). Both play key roles during late embryonic development. In humans it is encoded by the NID2 gene.
Laminin subunit gamma-3 also known as LAMC3 is a protein that in humans is encoded by the LAMC3 gene.
{{cite journal}}: CS1 maint: numeric names: authors list (link)PDB gallery | |
|---|---|
|
