Langbahn Team – Weltmeisterschaft

Nidogen-1

NID1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNID1, NID, nidogen 1, entactin
External IDsOMIM: 131390; MGI: 97342; HomoloGene: 1878; GeneCards: NID1; OMA:NID1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

4811

18073

Ensembl

ENSG00000116962

ENSMUSG00000005397

UniProt

P14543

P10493

RefSeq (mRNA)

NM_002508

NM_010917

RefSeq (protein)

NP_002499

NP_035047

Location (UCSC)Chr 1: 235.98 – 236.07 MbChr 13: 13.61 – 13.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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.[9] It may also play a role in cell interactions with the extracellular matrix.[10][11]

Clinical significance

Mutations in NID1 cause autosomal dominant Dandy–Walker malformation with occipital encephalocele (ADDWOC).[12][13]

Interactions

Nidogen-1 has been shown to interact with FBLN1.[14][15][16]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116962 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005397 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Olsen DR, Nagayoshi T, Fazio M, Mattei MG, Passage E, Weil D, Timpl R, Chu ML, Uitto J (June 1989). "Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43". Am. J. Hum. Genet. 44 (6): 876–85. PMC 1715653. PMID 2471408.
  6. ^ Zimmermann K, Hoischen S, Hafner M, Nischt R (May 1995). "Genomic sequences and structural organization of the human nidogen gene (NID)". Genomics. 27 (2): 245–50. doi:10.1006/geno.1995.1038. PMID 7557988.
  7. ^ Smith J, Ockleford CD (January 1994). "Laser scanning confocal examination and comparison of nidogen (entactin) with laminin in term human amniochorion". Placenta. 15 (1): 95–106. doi:10.1016/S0143-4004(05)80240-1. PMID 8208674.
  8. ^ Ockleford CD, Bright N, Hubbard A, D'Lacey C, Smith J, Gardiner L, Sheikh T, Albentosa M, Turtle K (October 1993). "Micro-Trabeculae, Macro-Plaques or Mini-Basement Membranes in Human Term Fetal Membranes?". Phil. Trans. R. Soc. Lond. B. 342 (1300): 121–136. doi:10.1098/rstb.1993.0142. PMID 7904354.
  9. ^ Yurchenco PD, Patton BL (2009). "Developmental and pathogenic mechanisms of basement membrane assembly". Curr. Pharm. Des. 15 (12): 1277–94. doi:10.2174/138161209787846766. PMC 2978668. PMID 19355968.
  10. ^ "Entrez Gene: NID1 nidogen 1".
  11. ^ Yi XY, Wayner EA, Kim Y, Fish AJ (March 1998). "Adhesion of cultured human kidney mesangial cells to native entactin: role of integrin receptors". Cell Adhes. Commun. 5 (3): 237–48. doi:10.3109/15419069809040294. PMID 9686320.
  12. ^ "OMIM Entry - % 609222 - DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC". www.omim.org. Retrieved 2020-01-06.
  13. ^ 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. S2CID 73507129.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  14. ^ Adam S, Göhring W, Wiedemann H, Chu ML, Timpl R, Kostka G (September 1997). "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. doi:10.1006/jmbi.1997.1244. PMID 9299350.
  15. ^ Tran H, VanDusen WJ, Argraves WS (September 1997). "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. doi:10.1074/jbc.272.36.22600. PMID 9278415.
  16. ^ Pan TC, Kluge M, Zhang RZ, Mayer U, Timpl R, Chu ML (August 1993). "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. doi:10.1111/j.1432-1033.1993.tb18086.x. PMID 8354280.

Further reading

Quelle: https://en.wikipedia.org/wiki/Nidogen-1