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KLHL24 Q6TFL4

Kelch样蛋白24 (红藻氨酸受体相互作用蛋白GluR6) (KRIP6) (蛋白DRE1)

蛋白质信息 (UniProt)

Kelch样蛋白24 (红藻氨酸受体相互作用蛋白GluR6) (KRIP6) (蛋白DRE1)

Q6TFL4

功能描述

维持中间丝稳定性和降解之间的平衡所必需,该过程对皮肤完整性至关重要 (PubMed:27889062)。作为BCR(KLHL24) E3泛素连接酶复合物的一部分,介导KRT14的泛素化并控制其在角质形成细胞分化过程中的水平 (PubMed:27798626)。特异性降低海马神经元中红藻氨酸受体介导的电流,极有可能通过调节通道特性实现 (By similarity)。在心脏发育和功能中具有关键作用 (PubMed:30715372)。 {ECO:0000250|UniProtKB:Q56A24, ECO:0000269|PubMed:27798626, ECO:0000269|PubMed:27889062, ECO:0000269|PubMed:30715372}。

组织特异性

Expressed in the skin (PubMed:27798626, PubMed:27889062). Found in keratinocytes, dermal fibroblasts, and melanocytes (PubMed:27889062). Basal-layer keratinocytes have lower KLHL24 expression than suprabasal keratinocytes (PubMed:27798626). Expressed in the brain, spinal cord, liver, testis, heart and at higher levels in the skeletal muscle (PubMed:30715372).

亚细胞定位

Perikaryon. Cell projection, axon

关键词

Alternative splicing Cardiomyopathy Cell junction Cell projection Cytoplasm Disease variant Epidermolysis bullosa Kelch repeat Proteomics identification Reference proteome