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aquaporin 4

Double layered 2D crystal structure of aquaporin-4 (AQP4M23) at 3.2 a resolution by electron crystallography.
Available structures
2d57
Identifiers
Symbols AQP4; HMIWC2; MGC22454; MIWC
External IDs OMIM600308 MGI107387 HomoloGene37507 GeneCards: AQP4 Gene
Orthologs
Species Human Mouse
Entrez 361 11829
Ensembl ENSG00000171885 ENSMUSG00000024411
UniProt P55087 P55088
RefSeq (mRNA) NM_004028 NM_009700
RefSeq (protein) NP_004019 NP_033830
Location (UCSC) Chr 18:
22.69 - 22.7 Mb
Chr 18:
15.55 - 15.56 Mb
PubMed search [1] [2]

Aquaporin 4 also known as AQP4 is protein which in humans is encoded by the AQP4 gene.[1] AQP4 belongs to the aquaporin family of integral membrane proteins that conduct water through the cell membrane.

Contents

Function

AQP4 is constitutively expressed in the basolateral cell membrane of principal collecting duct cells in the kidney and provide a pathway for water to exit these cells.[2]

AQP4 is also expressed in astrocytes and is upregulated by direct insult to the central nervous system.[3]

Pathology

Aquaporin-4 has been proposed as the primary autoimmune target in Devic's disease.[4][5]

See also

References

  1. ^ Jung JS, Bhat RV, Preston GM, Guggino WB, Baraban JM, Agre P (December 1994). "Molecular characterization of an aquaporin cDNA from brain: candidate osmoreceptor and regulator of water balance". Proceedings of the National Academy of Sciences of the United States of America 91 (26): 13052–6. PMID 7528931.  
  2. ^ Agre P, Nielsen S (1996). "The aquaporin family of water channels in kidney". Nephrologie 17 (7): 409–15. PMID 8987045.  
  3. ^ Nagelhus EA, Mathiisen TM, Ottersen OP (2004). "Aquaporin-4 in the central nervous system: cellular and subcellular distribution and coexpression with KIR4.1". Neuroscience 129 (4): 905–13. doi:10.1016/j.neuroscience.2004.08.053. PMID 15561407.  
  4. ^ Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR (August 2005). "IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel". J. Exp. Med. 202 (4): 473–7. doi:10.1084/jem.20050304. PMID 16087714.  
  5. ^ Bradl M, Lassmann DH (September 2008). "Anti-aquaporin-4 antibodies in neuromyelitis optica: how to prove their pathogenetic relevance?". International MS Journal / MS Forum 15 (3): 75–8. PMID 18812056. http://www.msforumonline.net/journal/download/default.aspx?pdf=20081575.pdf.  


Further reading

  • Strand L, Moe SE, Solbu TT, et al. (2009). "Roles of aquaporin-4 isoforms and amino acids in square array assembly.". Biochemistry 48 (25): 5785-93. doi:10.1021/bi802231q. PMID 19445480.  
  • Goodyear MJ, Crewther SG, Junghans BM. "A role for aquaporin-4 in fluid regulation in the inner retina.". Vis. Neurosci. 26 (2): 159-65. doi:10.1017/S0952523809090038. PMID 19366470.  
  • Matsushita T, Matsuoka T, Isobe N, et al. (2009). "Association of the HLA-DPB1*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders.". Tissue Antigens 73 (2): 171-6. doi:10.1111/j.1399-0039.2008.01172.x. PMID 19140826.  
  • Rubino E, Rainero I, Vaula G, et al. (2009). "Investigating the genetic role of aquaporin4 gene in migraine.". The journal of headache and pain 10 (2): 111-4. doi:10.1007/s10194-009-0100-z. PMID 19209385.  
  • Benarroch EE (2007). "Aquaporin-4, homeostasis, and neurologic disease.". Neurology 69 (24): 2266-8. doi:10.1212/01.wnl.0000286385.59836.e2. PMID 18071147.  
  • Ho JD, Yeh R, Sandstrom A, et al. (2009). "Crystal structure of human aquaporin 4 at 1.8 A and its mechanism of conductance.". Proc. Natl. Acad. Sci. U.S.A. 106 (18): 7437-42. doi:10.1073/pnas.0902725106. PMID 19383790.  
  • Assereto S, Mastrototaro M, Stringara S, et al. (2008). "Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.". Cell Cycle 7 (14): 2199-207. PMID 18641458.  
  • Dibas A, Yang MH, He S, et al. (2008). "Changes in ocular aquaporin-4 (AQP4) expression following retinal injury.". Mol. Vis. 14: 1770-83. PMID 18836575.  
  • Sorani MD, Zador Z, Hurowitz E, et al. (2008). "Novel variants in human Aquaporin-4 reduce cellular water permeability.". Hum. Mol. Genet. 17 (15): 2379-89. doi:10.1093/hmg/ddn138. PMID 18511455.  
  • Ng WH, Hy JW, Tan WL, et al. (2009). "Aquaporin-4 expression is increased in edematous meningiomas.". Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 16 (3): 441-3. doi:10.1016/j.jocn.2008.04.028. PMID 19153045.  
  • Nishiyama S, Ito T, Misu T, et al. (2009). "A case of NMO seropositive for aquaporin-4 antibody more than 10 years before onset.". Neurology 72 (22): 1960-1. doi:10.1212/WNL.0b013e3181a82621. PMID 19487655.  
  • Misu T, Fujihara K, Itoyama Y (2008). "[Neuromyelitis optica and anti-aquaporin 4 antibody--an overview]". Brain and nerve = Shinkei kenkyÅ« no shinpo 60 (5): 527-37. PMID 18516975.  
  • Dibas AI, Mia AJ, Yorio T (1998). "Aquaporins (water channels): role in vasopressin-activated water transport.". Proc. Soc. Exp. Biol. Med. 219 (3): 183-99. PMID 9824541.  
  • Doi H, Matsushita T, Isobe N, et al. (2009). "Hypercomplementemia at relapse in patients with anti-aquaporin-4 antibody.". Mult. Scler. 15 (3): 304-10. doi:10.1177/1352458508099139. PMID 19028829.  
  • Pittock SJ, Lennon VA (2008). "Aquaporin-4 autoantibodies in a paraneoplastic context.". Arch. Neurol. 65 (5): 629-32. doi:10.1001/archneur.65.5.629. PMID 18474738.  
  • Matsushita T, Isobe N, Matsuoka T, et al. (2009). "Aquaporin-4 autoimmune syndrome and anti-aquaporin-4 antibody-negative opticospinal multiple sclerosis in Japanese.". Mult. Scler. 15 (7): 834-47. doi:10.1177/1352458509104595. PMID 19465451.  
  • Graber DJ, Levy M, Kerr D, Wade WF (2008). "Neuromyelitis optica pathogenesis and aquaporin 4.". Journal of neuroinflammation 5: 22. doi:10.1186/1742-2094-5-22. PMID 18510734.  
  • Baba T, Nakashima I, Kanbayashi T, et al. (2009). "Narcolepsy as an initial manifestation of neuromyelitis optica with anti-aquaporin-4 antibody.". J. Neurol. 256 (2): 287-8. doi:10.1007/s00415-009-0139-4. PMID 19266146.  
  • Xu H, Zhang Y, Wei W, et al. (2009). "Differential expression of aquaporin-4 in human gastric normal and cancer tissues.". Gastroenterol. Clin. Biol. 33 (1 Pt 1): 72-6. doi:10.1016/j.gcb.2008.07.010. PMID 19112001.  
  • Kadohira I, Abe Y, Nuriya M, et al. (2008). "Phosphorylation in the C-terminal domain of Aquaporin-4 is required for Golgi transition in primary cultured astrocytes.". Biochem. Biophys. Res. Commun. 377 (2): 463-8. doi:10.1016/j.bbrc.2008.09.155. PMID 18854171.  

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