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Wikipedia

Nidogen-1

January 01, 1970

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]

NID1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNID1, NID, nidogen 1, entactin
External IDsOMIM: 131390 MGI: 97342 HomoloGene: 1878 GeneCards: NID1
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

Function edit

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 edit

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

Interactions edit

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

References edit

  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 edit

  • Chung AE, Durkin ME (1990). "Entactin: structure and function". Am. J. Respir. Cell Mol. Biol. 3 (4): 275–82. doi:10.1165/ajrcmb/3.4.275. PMID 2119632.
  • Yurchenco PD, Schittny JC (1990). "Molecular architecture of basement membranes". FASEB J. 4 (6): 1577–90. doi:10.1096/fasebj.4.6.2180767. PMID 2180767. S2CID 18724722.

External links edit

January 01, 1970
nidogen, formerly, known, entactin, protein, that, humans, encoded, nid1, gene, both, nidogen, nidogen, essential, components, basement, membrane, alongside, other, components, such, type, collagen, proteoglycans, heparan, sulfate, glycosaminoglycans, laminin,. 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 NID1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1NDXIdentifiersAliasesNID1 NID nidogen 1 entactinExternal IDsOMIM 131390 MGI 97342 HomoloGene 1878 GeneCards NID1Gene location Human Chr Chromosome 1 human 1 Band1q42 3Start235 975 830 bp 1 End236 065 109 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 A1 13 5 26 cMStart13 612 136 bp 2 End13 686 854 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed instromal cell of endometriumgastric mucosalower lobe of lungleft uterine tuberight lungpericardiumpyloruscanal of the cervixplacentasubcutaneous adipose tissueTop expressed inepididymisexternal carotid arteryinternal carotid arteryleft lung lobetrophoblastsdermisconjunctival fornixatriumatrioventricular valveuterusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionlaminin 1 binding calcium ion binding laminin binding collagen binding extracellular matrix binding proteoglycan binding extracellular matrix structural constituentCellular componentextracellular matrix extracellular region basement membrane extracellular exosome cell periphery extracellular space collagen containing extracellular matrixBiological processcell matrix adhesion extracellular matrix disassembly extracellular matrix organization cell adhesion glomerular basement membrane development basement membrane organization positive regulation of cell substrate adhesionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez481118073EnsemblENSG00000116962ENSMUSG00000005397UniProtP14543P10493RefSeq mRNA NM 002508NM 010917RefSeq protein NP 002499NP 035047Location UCSC Chr 1 235 98 236 07 MbChr 13 13 61 13 69 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External linksFunction editNidogen 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 editMutations in NID1 cause autosomal dominant Dandy Walker malformation with occipital encephalocele ADDWOC 12 13 Interactions editNidogen 1 has been shown to interact with FBLN1 14 15 16 References edit a b c GRCh38 Ensembl release 89 ENSG00000116962 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000005397 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 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 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 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 Entrez Gene NID1 nidogen 1 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 OMIM Entry 609222 DANDY WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE AUTOSOMAL DOMINANT ADDWOC www omim org Retrieved 2020 01 06 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 a href Template Cite journal html title Template Cite journal cite journal a CS1 maint numeric names authors list link Adam S Gohring 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 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 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 editChung AE Durkin ME 1990 Entactin structure and function Am J Respir Cell Mol Biol 3 4 275 82 doi 10 1165 ajrcmb 3 4 275 PMID 2119632 Yurchenco PD Schittny JC 1990 Molecular architecture of basement membranes FASEB J 4 6 1577 90 doi 10 1096 fasebj 4 6 2180767 PMID 2180767 S2CID 18724722 External links editNidogen at the U S 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 Retrieved from https en wikipedia org w index php title Nidogen 1 amp oldid 1215519113, wikipedia, wiki, book, books, library,

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