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ANK1

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Ankirin 1, koji je poznat kao ANK1, je protein koji je kod ljudi kod ljudi kodiran ANK1 genom.[1][2]

Ankyrin 1, eritrocitski

PDB grafika bazirana na 1n11.
Dostupne strukture
1n11
Identifikatori
SimboliANK1; ANK; SPH1; SPH2
Vanjski IDOMIM: 182900 MGI: 88024 HomoloGene: 55427 GeneCards: ANK1 Gene
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez28611733
EnsemblENSG00000029534ENSMUSG00000031543
UniProtP16157Q0VGY9
RefSeq (mRNA)NM_000037XM_981917
RefSeq (protein)NP_000028XP_987011
Lokacija (UCSC)Chr 8:
41.63 - 41.87 Mb		Chr 8:
24.44 - 24.62 Mb
PubMed pretraga[1][2]

Distribucija u tkivu uredi

Protein kodiran ankirin 1 genom je prototip ankirinske familije. On je prvo otkriven u eritrocitima, ali je od tog vremena isto tako pronađen u mozgu i mišićima.[2]

Genetika uredi

Kompleksni struktura alternativnog splajsovanja u regulatornom domenu, stvara različite izoforme ankirina 1, međutim precizna funkcija tih brojnih izoformi nije poznata. Alternativna poliadenilacija koja dovodi do niza eritrocitnih ankirin 1 iRNK molekula različitih veličina je primećena. Skraćene izoforme ankirina 1 specifične za mišiće, koje su proizvod primene jednog alternativnog promotora, su isto tako bile identifikovane.[2]

Povezanost bolesti uredi

Mutacije eritrocitnog ankirina 1 su bile asocirane u skoro polovini svih pacijenata sa naslednom sferocitozom.[2]

Funkcija uredi

ANK1 protein pripada ankirinskoj familiji koja povezuje integralne membranske proteine sa potpornim spektrin-aktin citoskeletonom, i igra ključnu ulogu u aktivnostima kao što su ćelijska pokretljivost, aktiviranje, proliferacija, kontakt i održavanje specijalizovanih membranskih domena. Više izoformi ankirina sa različitim afinitetima za brojne proteine su izraženi u tkivno-specifičnom razvojno-regulisanom maniru. Većina ankirina se tipično sastoji of tri strukturna domena: amino-terminalni domen koji sadrži višestruka ankirin ponavljanja; centralin region sa visoko konzervisanim spektrin vezivajućim domenom; i karboksi-terminal regulatorni domen koji je najmanje konzerviran i koji je subjekat varijacije.[2]

sAnk1 (engl. small ANK1) varijanta proteinskog spajanja uspostavlja kontakte sa obskurin proteinom, gigantskim proteinom koji okružuje kontraktilni aparat u izbrazdanom mišiću.[3]

Interakcije uredi

ANK1 pokazan da ima protein-protein interakciju sa Tiam1 proteinom[4] koji promoviše propagaciju Rac1 signala i tim putem razvoj raka dojke. ANK1 isto tako uspostavlja interakcije sa nizom drugih proteina, kao što su: Titin,[5] RHAG[6] i OBSCN.[7]

Vidi još uredi

Reference uredi

  1. ↑ Lambert S, Yu H, Prchal JT, et al. (March 1990). „cDNA sequence for human erythrocyte ankyrin”. Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1730–4. DOI:10.1073/pnas.87.5.1730. PMC 53556. PMID 1689849. 
  2. ↑ 2,0 2,1 2,2 2,3 2,4 „Entrez Gene: ANK1 ankyrin 1, erythrocytic”. 
  3. ↑ Borzok MA, Catino DH, Nicholson JD, Kontrogianni-Konstantopoulos A, Bloch RJ (November 2007). „Mapping the binding site on small ankyrin 1 for obscurin”. J. Biol. Chem. 282 (44): 32384–96. DOI:10.1074/jbc.M704089200. PMID 17720975. 
  4. ↑ Bourguignon, L Y; Zhu H, Shao L, Chen Y W (2000). „Ankyrin-Tiam1 interaction promotes Rac1 signaling and metastatic breast tumor cell invasion and migration”. J. Cell Biol. (UNITED STATES) 150 (1): 177–91. ISSN 0021-9525. PMID 10893266. 
  5. ↑ Kontrogianni-Konstantopoulos, Aikaterini; Bloch Robert J (February 2003). „The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin”. J. Biol. Chem. (United States) 278 (6): 3985–91. DOI:10.1074/jbc.M209012200. ISSN 0021-9258. PMID 12444090. 
  6. ↑ Nicolas, Virginie; Le Van Kim Caroline, Gane Pierre, Birkenmeier Connie, Cartron Jean-Pierre, Colin Yves, Mouro-Chanteloup Isabelle (July 2003). „Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation”. J. Biol. Chem. (United States) 278 (28): 25526–33. DOI:10.1074/jbc.M302816200. ISSN 0021-9258. PMID 12719424. 
  7. ↑ Kontrogianni-Konstantopoulos, Aikaterini; Jones Ellene M, Van Rossum Damian B, Bloch Robert J (March 2003). „Obscurin is a ligand for small ankyrin 1 in skeletal muscle”. Mol. Biol. Cell (United States) 14 (3): 1138–48. DOI:10.1091/mbc.E02-07-0411. ISSN 1059-1524. PMID 12631729. 

Literatura uredi

  • Bennett V, Baines AJ (2001). „Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.”. Physiol. Rev. 81 (3): 1353–92. PMID 11427698. 
  • Bennett V (1979). „Immunoreactive forms of human erythrocyte ankyrin are present in diverse cells and tissues.”. Nature 281 (5732): 597–9. DOI:10.1038/281597a0. PMID 492324. 
  • Lambert S, Yu H, Prchal JT, et al. (1990). „cDNA sequence for human erythrocyte ankyrin.”. Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1730–4. DOI:10.1073/pnas.87.5.1730. PMID 1689849. 
  • Fujimoto T, Lee K, Miwa S, Ogawa K (1991). „Immunocytochemical localization of fodrin and ankyrin in bovine chromaffin cells in vitro.”. J. Histochem. Cytochem. 39 (11): 1485–93. PMID 1833445. 
  • Lux SE, John KM, Bennett V (1990). „Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins.”. Nature 344 (6261): 36–42. DOI:10.1038/344036a0. PMID 2137557. 
  • Davis LH, Bennett V (1990). „Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin.”. J. Biol. Chem. 265 (18): 10589–96. PMID 2141335. 
  • Korsgren C, Cohen CM (1988). „Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3.”. J. Biol. Chem. 263 (21): 10212–8. PMID 2968981. 
  • Cianci CD, Giorgi M, Morrow JS (1988). „Phosphorylation of ankyrin down-regulates its cooperative interaction with spectrin and protein 3.”. J. Cell. Biochem. 37 (3): 301–15. DOI:10.1002/jcb.240370305. PMID 2970468. 
  • Steiner JP, Bennett V (1988). „Ankyrin-independent membrane protein-binding sites for brain and erythrocyte spectrin.”. J. Biol. Chem. 263 (28): 14417–25. PMID 2971657. 
  • Hargreaves WR, Giedd KN, Verkleij A, Branton D (1981). „Reassociation of ankyrin with band 3 in erythrocyte membranes and in lipid vesicles.”. J. Biol. Chem. 255 (24): 11965–72. PMID 6449514. 
  • Bourguignon LY, Lokeshwar VB, Chen X, Kerrick WG (1994). „Hyaluronic acid-induced lymphocyte signal transduction and HA receptor (GP85/CD44)-cytoskeleton interaction.”. J. Immunol. 151 (12): 6634–44. PMID 7505012. 
  • Maruyama K, Sugano S (1994). „Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.”. Gene 138 (1-2): 171–4. DOI:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Morgans CW, Kopito RR (1993). „Association of the brain anion exchanger, AE3, with the repeat domain of ankyrin.”. J. Cell. Sci. 105 (Pt 4): 1137–42. PMID 8227202. 
  • Bourguignon LY, Jin H, Iida N, et al. (1993). „The involvement of ankyrin in the regulation of inositol 1,4,5-trisphosphate receptor-mediated internal Ca2+ release from Ca2+ storage vesicles in mouse T-lymphoma cells.”. J. Biol. Chem. 268 (10): 7290–7. PMID 8385102. 
  • Eber SW, Gonzalez JM, Lux ML, et al. (1996). „Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.”. Nat. Genet. 13 (2): 214–8. DOI:10.1038/ng0696-214. PMID 8640229. 
  • Lanfranchi G, Muraro T, Caldara F, et al. (1996). „Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization.”. Genome Res. 6 (1): 35–42. DOI:10.1101/gr.6.1.35. PMID 8681137. 
  • del Giudice EM, Hayette S, Bozon M, et al. (1996). „Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.”. Br. J. Haematol. 93 (4): 828–34. DOI:10.1046/j.1365-2141.1996.d01-1746.x. PMID 8703812. 
  • Zhou D, Birkenmeier CS, Williams MW, et al. (1997). „Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle.”. J. Cell Biol. 136 (3): 621–31. DOI:10.1083/jcb.136.3.621. PMID 9024692. 
  • Gallagher PG, Tse WT, Scarpa AL, et al. (1997). „Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing.”. J. Biol. Chem. 272 (31): 19220–8. DOI:10.1074/jbc.272.31.19220. PMID 9235914. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). „Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.”. Gene 200 (1-2): 149–56. DOI:10.1016/S0378-1119(97)00411-3. PMID 9373149. 

Spoljašnje veze uredi

Izvor: https://sh.wikipedia.org/w/index.php?title=ANK1&oldid=41415720