ankyrin-1; erythrocyte ankyrin; ankyrin-R (ANK1 ANK)
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Function
- attaches integral membrane proteins to cytoskeletal elements
- binds
- erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein
- in skeletal muscle, isoform Mu17 together with obscurin may provide amolecular link between the sarcoplasmic reticulum & myofibrils
- regulated by phosphorylation
- interacts with a number of integral membrane proteins & cytoskeletal proteins
- binds SPTB/spectrin (beta chain) through a 70 AA N-terminal region of the 62 kD domain, & the C-terminal of SLC4A1/erythrocyte membrane protein band 3 through the ankyrin repeat region
- also interacts with TTN/titin
- isoform Mu17 interacts with OBSCN isoform 3/obscurin
Structure
- palmitoylated
- the 55 kD regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) & SLC4A1/erythrocyte membrane protein band 3
- the ANK repeat region forms a spiral around a large central cavity & is involved in binding of ion transporters
- contains 23 ANK repeats
- contains 1 death domain
- contains 1 ZU5 domain
Compartment
- isoform Er1: cytoplasm, cytoskeleton; other erythrocyte isoforms are probably located near the surface of erythrocytic plasma membrane
- isoform Mu17: membrane, cytoplasm, myofibril, sarcomere, M-band; colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells
- isoform Mu18, Mu19, Mu20: sarcoplasmic reticulum (probable)
Alternative splicing
named isoforms=21
Alternative promoter usage
- major erythrocyte-specific isoform produced by alternative promoter usage
Expression
- isoform Mu17, isoform Mu18, isoform Mu19 & isoform Mu20 are expressed in skeletal muscle
- isoform Br21 is expressed in brain
Pathology
- defects in ANK1 are a cause of hereditary spherocytosis type 1
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P16157.html
- ↑ Wikipedia; Note: ankyrin entry http://en.wikipedia.org/wiki/ankyrin
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=286