ANK1_HUMAN

Source: hRBCD ; ID: IPI00216697
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)

Gene names: ANK1 , ANK
Protein names and data: ANK1_HUMAN , Ankyrin-1; ANK-1 , Ankyrin-R; Erythrocyte ankyrin Lenght: 1881 a.a.
Mass: 206265 Da
fasta formatted sequence

Function: 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.
Disease:
Cellular location: Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane. Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells. Isoform Mu18: Sarcoplasmic reticulum (Probable). Isoform Mu19: Sarcoplasmic reticulum (Probable). Isoform Mu20: Sarcoplasmic reticulum (Probable).
Tissue specificity: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.

Genetic variants

Database cross-references

UniProt: P16157
Ensembl: ENST00000265709
Ensembl: ENST00000289734
Ensembl: ENST00000314214
Ensembl: ENST00000347528
Ensembl: ENST00000348036
Ensembl: ENST00000352337
Ensembl: ENST00000379758
Ensembl: ENST00000396942
Ensembl: ENST00000396945
Ensembl: ENST00000457297
Ensembl: ENST00000522543
MIM: 182900
MIM: 612641
neXtProt: NX_P16157
Antibodypedia: P16157 (may not find the protein thus also not any antibody)
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