Ankyrin

protein
Name = ANK1, erythrocytic
caption = Ribbon diagram of a fragment of the membrane-binding domain of ankyrin R. From PDB|1N11.

---

width = 250
HGNCid = 492
Symbol = ANK1
AltSymbols = AnkyrinR, Band2.1
EntrezGene = 286
OMIM = 182900
RefSeq = NM_000037
UniProt = P16157
PDB = 1N11
ECnumber =
Chromosome = 8
Arm = p
Band = 21.1
LocusSupplementaryData = -11.2protein
Name = ANK2, neuronal
caption =


width =
HGNCid = 493
Symbol = ANK2
AltSymbols = AnkyrinB
EntrezGene = 287
OMIM = 106410
RefSeq = NM_001148
UniProt = Q01484
PDB =
ECnumber =
Chromosome = 4
Arm = q
Band = 25
LocusSupplementaryData = -q27protein
Name = ANK3, node of Ranvier
caption =


width =
HGNCid = 494
Symbol = ANK3
AltSymbols = AnkyrinG
EntrezGene = 288
OMIM = 600465
RefSeq = NM_020987
UniProt = Q12955
PDB =
ECnumber =
Chromosome = 10
Arm = q
Band = 21
LocusSupplementaryData =

Ankyrins are a family of adaptor proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane skeleton.cite journal | author = Bennett V, Baines AJ | title = Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues | journal = Physiol. Rev. | volume = 81 | issue = 3 | pages = 1353–92 | year = 2001 | month = July | pmid = 11427698 | url = http://physrev.physiology.org/cgi/content/abstract/81/3/1353 | issn = ] Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins. This linkage is required to maintain the integrity of the plasma membranes and to anchor specific ion channels, ion exchangers and ion transporters in the plasma membrane.

tructure

Ankyrins contain four functional domains: an N-terminal domain that contains 24 tandem ankyrin repeats, a central domain that binds to spectrin, a death domain that is binds to proteins involved in apoptosis, and a C-terminal regulatory domain that is highly variable between different ankyrin proteins.

ubtypes

Ankyrins are encoded by three genes (ANK1, ANK2 and ANK3) in mammals. Each gene in turn produces multiple proteins through alternative splicing.

ANK1

The ANK1 gene encodes the AnkyrinR proteins. AnkyrinR was first characterized in human erythrocytes, where this ankyrin was referred to as erythrocyte ankyrin or band2.1. cite journal |author=Bennett V, Stenbuck PJ |title=Identification and partial purification of ankyrin, the high affinity membrane attachment site for human erythrocyte spectrin |journal=J Biol Chem |volume=254 |issue=7 |pages=2533–41 |year=1979 |pmid=372182 |url=http://www.jbc.org/cgi/pmidlookup?view=long&pmid=372182] AnkyrinR erythrocytes to resist shear forces experienced in the circulation. Individuals with reduced or defective ankyrinR have a form of hemolytic anemia termed hereditary spherocytosis.cite journal |author=Lux SE, Tse WT, Menninger JC, John KM, Harris P, Shalev O, Chilcote RR, Marchesi SL, Watkins PC, Bennett V |title=Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8 |journal=Nature |volume=345 |issue=6277 |pages=736-9 |year=1990 |pmid=2141669 |doi=10.1038/345736a0 ] In erythrocytes, AnkyrinR links the membrane skeleton to the Cl^-/HCO₃^- anion exchanger. cite journal |author=Bennett V, Stenbuck PJ |title=The membrane attachment protein for spectrin is associated with band 3 in human erythrocyte membranes |journal=Nature |volume=280 |issue=5722 |pages=468-73 |year =1979 |pmid=379653 ]

Ankyrin 1 links membrane receptor CD44 to the inositol triphosphate receptor and the cytoskeleton.cite journal |author=Singleton PA, Bourguignon LY |title=CD44 interaction with ankyrin and IP3 receptor in lipid rafts promotes hyaluronan-mediated Ca2+ signaling leading to nitric oxide production and endothelial cell adhesion and proliferation |journal=Exp Cell Res |volume=295 |issue=1 |pages=102–18 |year=2004 |pmid= 15051494 |doi=10.1016/j.yexcr.2003.12.025]

ANK2

Subsequently, ankyrinB proteins (products of the ANK2 genecite journal | author = Schott JJ, Charpentier F, Peltier S, "et al" | title = Mapping of a gene for long QT syndrome to chromosome 4q25-27 | journal = Am. J. Hum. Genet. | volume = 57 | issue = 5 | pages = 1114–22 | year = 1995 | month = November | pmid = 7485162 | pmc = 1801360 | url = | issn = ] ) were identified in brain and muscle. AnkyrinB and AnkyrinG proteins are required for the polarized distribution of many membrane proteins including the Na⁺/K⁺ ATPase, the voltage gated Na⁺ channel and the Na⁺/Ca²⁺ exchanger.

ANK3

AnkyrinG proteins (products of the ANK3 genecite journal | author = Kapfhamer D, Miller DE, Lambert S, Bennett V, Glover TW, Burmeister M | title = Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10 | journal = Genomics | volume = 27 | issue = 1 | pages = 189–91 | year = 1995 | month = May | pmid = 7665168 | doi = 10.1006/geno.1995.1023 | url = | issn = ] ) were identified in epithelial cells and neurons. A large-scale genetic analysis conducted in 2008 shows the possibility that ANK3 is involved in the bipolar disorder.cite journal | author = Ferreira MA, O'Donovan MC, Meng YA, "et al" | title = Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder | journal = Nat. Genet. | volume = | issue = | pages = | year = 2008 | month = August | pmid = 18711365 | doi = 10.1038/ng.209 | url = | issn = ] cite web | url = http://www.schizophreniaforum.org/new/detail.asp?id=1450 | title = Channeling Mental Illness: GWAS Links Ion Channels, Bipolar Disorder | author = | authorlink = | coauthors = | date = 2008-08-19 | format = | work = Schizophrenia Research Forum: News | publisher = schizophreniaforum.org | pages = | language = | archiveurl = | archivedate = | quote = | accessdate = 2008-08-21]

References

External links

*