The 14 AA immnunogen for this antibody is present in isoform Er5, 6, 11, 12, 15, Mu17, Mu18 and Mu20, P16157. Mu17, 18 and 20 are 17 kd, 15 kd and 8 kd respectively. The antibody preferentially detects Mu17 and we are not sure whether it can detect other isoforms.
Mouse, Human Predicted to work with:
Rat, Rabbit, Horse, Chicken, Guinea pig, Cow, Cat, Dog
Synthetic peptide corresponding to Human Ankyrin erythroid (C terminal). The immunogen is a 14aa peptide within this sequence: RRQIDLSSAD AAQEHEEVEL RGSGLQPDLI EGRKGAQIVK RASLKRGKQ, corresponding to C terminal amino acids of Human Ankyrin erythroid Sequence:
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1.25 µg/ml. Detects a band of approximately 21 kDa (predicted molecular weight: 17 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use a concentration of 4 - 8 µg/ml.
Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.
Involvement in disease
Defects in ANK1 are a cause of spherocytosis type 1 (SPH1) [MIM:182900]; also called hereditary spherocytosis type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or recessive.
The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3. The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters.
Regulated by phosphorylation. Palmitoylated.
Cytoplasm > cytoskeleton. Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane; Sarcoplasmic reticulum and Membrane. Cytoplasm > myofibril > sarcomere > M line. Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.