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Gene Review

Ank1  -  ankyrin 1, erythroid

Mus musculus

Synonyms: ANK-1, Ank-1, Ankyrin-1, Erythrocyte ankyrin, nb, ...
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Disease relevance of Ank1


High impact information on Ank1

  • Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment [4].
  • We have investigated spectrin synthesis and mRNA activity in mice homozygous and heterozygous for six mutations occurring at three distinct loci (nb, ja, sph) [5].
  • Our results indicate that the primary effect of the nb mutation is a deficiency of another erythrocyte membrane skeletal protein, ankyrin [5].
  • Its structure contains ankyrin repeats and the 'death' domain, and it is associated with the cell cytoskeleton [6].
  • The erythrocyte plasma membrane is lined with a network of extrinsic proteins, mainly spectrin and actin, which constitute a reticulum tethered to the intrinsic anion transport protein of the lipid bilayer through a linker protein, ankyrin [7].

Chemical compound and disease context of Ank1


Biological context of Ank1


Anatomical context of Ank1


Associations of Ank1 with chemical compounds

  • To enhance the usefulness of this model, we have identified the Ank1nb mutation as the deletion of a guanosine residue in exon 36 of the erythroid ankyrin gene (Ank1) [1].
  • Treatment of nb/nb ghosts with the nonionic detergent C12E8 (octaethylene glycol n-dodecyl monoether) resulted in nearly complete extraction of band 3 [18].
  • To determine if increased PS exposure correlates with thrombotic risk in HS and HE mice with ankyrin, beta-spectrin, and alpha-spectrin deficiencies, measurements of FITC-labeled annexin V binding to externalized PS on RBCs were performed [3].
  • In addition, T lymphocyte activation-related signals and phorbol ester treatment, both of which lead to PKC activation, cause a rapid translocation of ankyrin, together with spectrin and PKC beta, to a single Triton X-100-insoluble aggregate in the cytoplasm [19].
  • MAIL (molecule-possessing ankyrin repeats induced by lipopolysaccharide) is a nuclear IkappaB protein that is also termed interleukin-1-inducible nuclear ankyrin repeat protein or inhibitor of nuclear factor kappaB (IkappaB) zeta [20].

Physical interactions of Ank1


Other interactions of Ank1

  • Multiple transcripts of approximately 7.5, 6.9, 6.3, 5.7, 5.1, and 4.6 kb are highly expressed in kidney where Ank1 and Ank2 mRNAs are barely detectable [10].
  • We conclude that Ank-1 is specifically required for Purkinje cell stability and, in its absence, Purkinje cell loss and neurological symptoms appear [15].
  • Kidneys from 32 transgenic mice and 10 age-matched controls from fetal to adult age were immunostained with antibodies to Na,K-ATPase, fodrin, ankyrin, E-cadherin, and tubule segment-specific lectins [22].
  • The Nrarp gene encodes an ankyrin-repeat protein that is transcriptionally regulated by the notch signaling pathway [23].
  • Gastric hyperplasia and increased proliferative responses of lymphocytes in mice lacking the COOH-terminal ankyrin domain of NF-kappaB2 [24].

Analytical, diagnostic and therapeutic context of Ank1


  1. Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1. Birkenmeier, C.S., Gifford, E.J., Barker, J.E. Hematol. J. (2003) [Pubmed]
  2. Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro. Dooner, G.J., Barker, J.E., Gallagher, P.G., Debatis, M.E., Brown, A.H., Forget, B.G., Becker, P.S. Exp. Hematol. (2000) [Pubmed]
  3. Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia. Wandersee, N.J., Tait, J.F., Barker, J.E. Blood Cells Mol. Dis. (2000) [Pubmed]
  4. Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment. Ango, F., di Cristo, G., Higashiyama, H., Bennett, V., Wu, P., Huang, Z.J. Cell (2004) [Pubmed]
  5. Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Bodine, D.M., Birkenmeier, C.S., Barker, J.E. Cell (1984) [Pubmed]
  6. DAP kinase links the control of apoptosis to metastasis. Inbal, B., Cohen, O., Polak-Charcon, S., Kopolovic, J., Vadai, E., Eisenbach, L., Kimchi, A. Nature (1997) [Pubmed]
  7. Appearance of new variants of membrane skeletal protein 4.1 during terminal differentiation of avian erythroid and lenticular cells. Granger, B.L., Lazarides, E. Nature (1985) [Pubmed]
  8. Mouse T lymphoma cells contain a transmembrane glycoprotein (GP85) that binds ankyrin. Kalomiris, E.L., Bourguignon, L.Y. J. Cell Biol. (1988) [Pubmed]
  9. Altered expression of cardiac ankyrin repeat protein and its homologue, ankyrin repeat protein with PEST and proline-rich region, in atrophic muscles in amyotrophic lateral sclerosis. Nakamura, K., Nakada, C., Takeuchi, K., Osaki, M., Shomori, K., Kato, S., Ohama, E., Sato, K., Fukayama, M., Mori, S., Ito, H., Moriyama, M. Pathobiology (2002) [Pubmed]
  10. Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain. Peters, L.L., John, K.M., Lu, F.M., Eicher, E.M., Higgins, A., Yialamas, M., Turtzo, L.C., Otsuka, A.J., Lux, S.E. J. Cell Biol. (1995) [Pubmed]
  11. An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor. Birkenmeier, C.S., Sharp, J.J., Gifford, E.J., Deveau, S.A., Barker, J.E. Genomics (1998) [Pubmed]
  12. Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. White, R.A., Birkenmeier, C.S., Lux, S.E., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  13. Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man. Birkenmeier, C.S., McFarland-Starr, E.C., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  14. Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo. Peters, L.L., White, R.A., Birkenmeier, C.S., Bloom, M.L., Lux, S.E., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  15. Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. Peters, L.L., Birkenmeier, C.S., Bronson, R.T., White, R.A., Lux, S.E., Otto, E., Bennett, V., Higgins, A., Barker, J.E. J. Cell Biol. (1991) [Pubmed]
  16. Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice. Peters, L.L., Turtzo, L.C., Birkenmeier, C.S., Barker, J.E. Blood (1993) [Pubmed]
  17. Complex patterns of sequence variation and multiple 5' and 3' ends are found among transcripts of the erythroid ankyrin gene. Birkenmeier, C.S., White, R.A., Peters, L.L., Hall, E.J., Lux, S.E., Barker, J.E. J. Biol. Chem. (1993) [Pubmed]
  18. Red cell membranes of ankyrin-deficient nb/nb mice lack band 3 tetramers but contain normal membrane skeletons. Yi, S.J., Liu, S.C., Derick, L.H., Murray, J., Barker, J.E., Cho, M.R., Palek, J., Golan, D.E. Biochemistry (1997) [Pubmed]
  19. Dynamic properties of ankyrin in T lymphocytes: colocalization with spectrin and protein kinase C beta. Gregorio, C.C., Repasky, E.A., Fowler, V.M., Black, J.D. J. Cell Biol. (1994) [Pubmed]
  20. Targeted disruption of MAIL, a nuclear IkappaB protein, leads to severe atopic dermatitis-like disease. Shiina, T., Konno, A., Oonuma, T., Kitamura, H., Imaoka, K., Takeda, N., Todokoro, K., Morimatsu, M. J. Biol. Chem. (2004) [Pubmed]
  21. RIP4 is an ankyrin repeat-containing kinase essential for keratinocyte differentiation. Holland, P., Willis, C., Kanaly, S., Glaccum, M., Warren, A., Charrier, K., Murison, J., Derry, J., Virca, G., Bird, T., Peschon, J. Curr. Biol. (2002) [Pubmed]
  22. Analysis of the role of membrane polarity in polycystic kidney disease of transgenic SBM mice. Barisoni, L., Trudel, M., Chrétien, N., Ward, L., van Adelsberg, J., D'Agati, V. Am. J. Pathol. (1995) [Pubmed]
  23. The Nrarp gene encodes an ankyrin-repeat protein that is transcriptionally regulated by the notch signaling pathway. Krebs, L.T., Deftos, M.L., Bevan, M.J., Gridley, T. Dev. Biol. (2001) [Pubmed]
  24. Gastric hyperplasia and increased proliferative responses of lymphocytes in mice lacking the COOH-terminal ankyrin domain of NF-kappaB2. Ishikawa, H., Carrasco, D., Claudio, E., Ryseck, R.P., Bravo, R. J. Exp. Med. (1997) [Pubmed]
  25. Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice. Kordeli, E., Bennett, V. J. Cell Biol. (1991) [Pubmed]
  26. Mutation in ankyrin repeats of the mouse Notch2 gene induces early embryonic lethality. Hamada, Y., Kadokawa, Y., Okabe, M., Ikawa, M., Coleman, J.R., Tsujimoto, Y. Development (1999) [Pubmed]
  27. Identification of the ankyrin-binding domain of the mouse T-lymphoma cell inositol 1,4,5-trisphosphate (IP3) receptor and its role in the regulation of IP3-mediated internal Ca2+ release. Bourguignon, L.Y., Jin, H. J. Biol. Chem. (1995) [Pubmed]
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