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GLS O94925

谷氨酰胺酶肾脏同工型,线粒体 (GLS) (EC 3.5.1.2) (K-谷氨酰胺酶) (L-谷氨酰胺酰胺水解酶) [切割为:谷氨酰胺酶肾脏同工型,线粒体 68 kDa 链;谷氨酰胺酶肾脏同工型,线粒体 65 kDa 链]

蛋白质信息 (UniProt)

谷氨酰胺酶肾脏同工型,线粒体 (GLS) (EC 3.5.1.2) (K-谷氨酰胺酶) (L-谷氨酰胺酰胺水解酶) [切割为:谷氨酰胺酶肾脏同工型,线粒体 68 kDa 链;谷氨酰胺酶肾脏同工型,线粒体 65 kDa 链]

O94925

功能描述

催化谷氨酰胺肾脏分解代谢主要途径中的第一个反应。在维持酸碱稳态中发挥作用。调节神经递质谷氨酸的水平,谷氨酸是大脑中主要的兴奋性神经递质 (PubMed:30239721, PubMed:30575854, PubMed:30970188)。 {ECO:0000269|PubMed:30239721, ECO:0000269|PubMed:30575854, ECO:0000269|PubMed:30970188}.; FUNCTION: [Isoform 2]: 缺乏催化活性。 {ECO:0000269|PubMed:11015561}.

组织特异性

Isoform 1 and isoform 3 are detected in brain cortex. Isoform 3 is highly expressed in astrocytoma, ganglioglioma and ependymoma. Isoform 1 is highly expressed in brain and kidney, but not detected in liver. Isoform 3 is highly expressed in heart and pancreas, detected at lower levels in placenta, lung, pancreas and kidney, but is not detected in liver. Isoform 2 is expressed in cardiac and skeletal muscle.

亚细胞定位

[Isoform 1]: Mitochondrion

关键词

3D-structure Acetylation Alternative splicing ANK repeat Cataract Cytoplasm Direct protein sequencing Disease variant Epilepsy Hydrolase