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Nidogen-1

From Wikipedia, the free encyclopedia
(Redirected fromEntactin)
Protein-coding gene in the species Homo sapiens
NID1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1NDX

Identifiers
AliasesNID1, NID, nidogen 1, entactin
External IDsOMIM:131390;MGI:97342;HomoloGene:1878;GeneCards:NID1;OMA:NID1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for NID1
Genomic location for NID1
Band1q42.3Start235,975,830bp[1]
End236,065,109bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for NID1
Genomic location for NID1
Band13 A1|13 5.26 cMStart13,612,136bp[2]
End13,686,854bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • gastric mucosa

  • lower lobe of lung

  • left uterine tube

  • right lung

  • pericardium

  • pylorus

  • canal of the cervix

  • placenta

  • subcutaneous adipose tissue
Top expressed in
  • endothelial cell of lymphatic vessel

  • epithelium of lens

  • epididymis

  • external carotid artery

  • internal carotid artery

  • efferent ductule

  • left lung lobe

  • trophoblast cell

  • Gonadal ridge

  • dermis
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 asentactin, is aprotein that in humans is encoded by theNID1gene.[5][6] Both nidogen-1 andnidogen-2 are essential components of thebasement membrane alongside other components such astype IV collagen,proteoglycans (heparan sulfate andglycosaminoglycans),laminin[7] andfibronectin.[8]

Function

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Nidogen-1 is a member of thenidogen family ofbasement membrane glycoproteins. The protein interacts with several other components of basement membranes. Structurally it (along withperlecan) connects the networks formed bycollagens andlaminins to each other.[9] It may also play a role in cell interactions with theextracellular matrix.[10][11]

Clinical significance

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Mutations inNID1 cause autosomal dominantDandy–Walker malformation with occipitalencephalocele (ADDWOC).[12][13]

Interactions

[edit]

Nidogen-1 has been shown tointeract withFBLN1.[14][15][16]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000116962Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000005397Ensembl, 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. Retrieved2020-01-06.
  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

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External links

[edit]
PDB gallery
  • 1gl4: NIDOGEN-1 G2/PERLECAN IG3 COMPLEX
    1gl4: NIDOGEN-1 G2/PERLECAN IG3 COMPLEX
  • 1h4u: DOMAIN G2 OF MOUSE NIDOGEN-1
    1h4u: DOMAIN G2 OF MOUSE NIDOGEN-1
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