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ANK1 P16157

锚蛋白-1 (ANK-1) (锚蛋白-R) (红细胞锚蛋白)

蛋白质信息 (UniProt)

锚蛋白-1 (ANK-1) (锚蛋白-R) (红细胞锚蛋白)

P16157

功能描述

锚蛋白-1复合物的组分,该复合物是一种参与红细胞膜稳定性和形状的多蛋白复合物 (PubMed:35835865)。将整合膜蛋白连接到细胞骨架成分上;与红细胞膜蛋白带4.2、Na-K ATPase、淋巴细胞膜蛋白GP85以及细胞骨架蛋白fodrin、tubulin、vimentin和desmin结合。红细胞ankyrins还将spectrin(β链)连接到红细胞阴离子交换蛋白的胞质结构域;它们保留了大部分或全部这些结合功能。 {ECO:0000269|PubMed:12456646, ECO:0000269|PubMed:35835865}.; FUNCTION: [Isoform Mu17]: 在骨骼肌中与obscurin一起,可能在肌浆网和肌原纤维之间提供分子连接。 {ECO:0000269|PubMed:12527750}.

组织特异性

Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.

亚细胞定位

[Isoform Er1]: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.; SUBCELLULAR LOCATION: [Isoform Mu17]: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.; SUBCELLULAR LOCATION: [Isoform Mu18]: Sarcoplasmic reticulum

关键词

3D-structure Alternative promoter usage Alternative splicing ANK repeat Cytoplasm Cytoskeleton Direct protein sequencing Disease variant Elliptocytosis Hereditary hemolytic anemia