2. Gene
  3. Gba - glucosidase, beta, acid Gene

Gba - glucosidase, beta, acid Gene

  • 基因
  • 蛋白
  • 相关产品

种属: Mus musculus

同用名: GC; GBA1; GLUC; GCase; betaGC

基因 ID: 14466 | 基因类型: protein coding

关于 Gba

功能概要

Enables glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and signaling receptor binding activity. Involved in several processes, including glucosylceramide catabolic process; regulation of cellular protein metabolic process; and vacuole organization. Acts upstream of or within with a positive effect on hematopoietic stem cell proliferation. Acts upstream of or within several processes, including glucosylceramide metabolic process; mitophagy; and nervous system development. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; integumental system; reproductive system; and sensory organ. Used to study Gaucher's disease; Gaucher's disease type I; and Gaucher's disease type II. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; Parkinson's disease (multiple); and Parkinsonism. Orthologous to human GBA (glucosylceramidase beta). [provided by Alliance of Genome Resources, Apr 2022]

Gba 基因产物(7)

mRNA Protein Name
NM_001077411.4 NP_001070879.1 lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409958.1 NP_001396887.1 lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409959.1 NP_001396888.1 lysosomal acid glucosylceramidase isoform 1 precursor
NM_001409960.1 NP_001396889.1 lysosomal acid glucosylceramidase isoform 2 precursor
NM_001409961.1 NP_001396890.1 lysosomal acid glucosylceramidase isoform 2 precursor
NM_001409962.1 NP_001396891.1 lysosomal acid glucosylceramidase isoform 2 precursor
NM_008094.7 NP_032120.1 lysosomal acid glucosylceramidase isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-glucosidase activity IDA
IDA: 通过直接分析推断
22659419 MGI
enables beta-glucosidase activity IMP
IMP: 通过突变表型推断
22659419 MGI
enables glucosylceramidase activity IDA
IDA: 通过直接分析推断
22659419 MGI
enables glucosylceramidase activity IMP
IMP: 通过突变表型推断
21700325 MGI
enables glucosyltransferase activity IDA
IDA: 通过直接分析推断
24211208 MGI
enables hydrolase activity IDA
IDA: 通过直接分析推断
19710420 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
27789271 MGI
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
18022370 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within T cell differentiation in thymus IMP
IMP: 通过突变表型推断
22665763 MGI
acts upstream of or within T-helper 2 cell cytokine production IMP
IMP: 通过突变表型推断
22665763 MGI
acts upstream of or within antigen processing and presentation IMP
IMP: 通过突变表型推断
22665763 MGI
acts upstream of or within autophagosome organization IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within autophagy IMP
IMP: 通过突变表型推断
23707074 MGI
involved in autophagy IMP
IMP: 通过突变表型推断
27378698 MGI
acts upstream of or within brain morphogenesis IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within cell maturation IMP
IMP: 通过突变表型推断
22665763 MGI
involved in cellular response to starvation IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within central nervous system development IMP
IMP: 通过突变表型推断
18346921 MGI
acts upstream of or within cerebellar Purkinje cell layer formation IMP
IMP: 通过突变表型推断
17954912 MGI
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
24211208 MGI
acts upstream of or within determination of adult lifespan IMP
IMP: 通过突变表型推断
18346921 MGI
involved in glucosylceramide catabolic process IDA
IDA: 通过直接分析推断
24211208 MGI
involved in glucosylceramide catabolic process IMP
IMP: 通过突变表型推断
21700325 MGI
acts upstream of or within glucosylceramide metabolic process IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within positive effect hematopoietic stem cell proliferation IMP
IMP: 通过突变表型推断
22665763 MGI
acts upstream of or within homeostasis of number of cells IMP
IMP: 通过突变表型推断
17954912 MGI
involved in lipid glycosylation IDA
IDA: 通过直接分析推断
24211208 MGI
acts upstream of or within lipid storage IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within lymphocyte migration IMP
IMP: 通过突变表型推断
22665763 MGI
involved in lysosome organization IMP
IMP: 通过突变表型推断
27378698 MGI
acts upstream of or within microglia differentiation IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within microglial cell proliferation IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within mitochondrion organization IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within mitophagy IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within motor behavior IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within negative regulation of neuron apoptotic process IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within negative regulation of protein metabolic process IMP
IMP: 通过突变表型推断
24388731 MGI
acts upstream of or within negative regulation of protein-containing complex assembly IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within nervous system process IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within neuromuscular process IMP
IMP: 通过突变表型推断
18346921 MGI
acts upstream of or within neuron apoptotic process IMP
IMP: 通过突变表型推断
17954912 MGI
acts upstream of or within positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within positive regulation of proteolysis involved in protein catabolic process IMP
IMP: 通过突变表型推断
21700325 MGI
acts upstream of or within positive regulation of type 2 mitophagy IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within pyramidal neuron differentiation IMP
IMP: 通过突变表型推断
17954912 MGI
involved in regulation of TOR signaling IMP
IMP: 通过突变表型推断
27378698 MGI
acts upstream of or within regulation of membrane potential IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within regulation of protein metabolic process IMP
IMP: 通过突变表型推断
23707074 MGI
acts upstream of or within respiratory electron transport chain IMP
IMP: 通过突变表型推断
23707074 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
27789271 MGI
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
27789271 MGI
located in extracellular space IDA
IDA: 通过直接分析推断
19710420 MGI
located in lysosomal lumen IDA
IDA: 通过直接分析推断
18022370 MGI
located in lysosomal membrane IDA
IDA: 通过直接分析推断
18022370 MGI
located in lysosome IDA
IDA: 通过直接分析推断
27789271 MGI
located in trans-Golgi network IDA
IDA: 通过直接分析推断
27789271 MGI
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

lysosomal acid glucosylceramidase

D-glucosyl-N-acylsphingosine glucohydrolase

SGTase

acid beta glucosidase

beta-glucocerebrosidase

cholesterol glucosyltransferase

cholesteryl-beta-glucosidase

glucocerebrosidase

glucosylceramidase

lysosomal acid GCase

lysosomal cholesterol glycosy

相关产品

Clinical Phase
生物活性分子 (3)
目录号 产品名 作用方式
纯度 Phase
HY-16743 Ibiglustat 99.76% Phase 3
HY-16743A Ibiglustat (L-Malic acid) 98.65% Phase 3
HY-16743B Ibiglustat succinate 99.71% Phase 3
Pre-clinical Phase
生物活性分子 (17)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-101399 γ-Glu-Phe 99.44% 否
HY-129411 Sinbaglustat 99.83% 否
HY-174311 GT-02216 Activator 98.91% 否
HY-101399A γ-Glu-Phe TFA 99.50% 否
HY-101399S γ-Glu-(Phe-13C9,15N) / 否
HY-101399SA γ-Glu-(Phe-13C9,15N) TFA / 否
HY-155410 HPSE1-IN-1 / 否
HY-155411 HPSE1-IN-2 / 否
HY-16743C Ibiglustat hydrochloride / 否
HY-RS05301 GBA1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS05302 GBA2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS05303 GBA3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18361 Gba2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20738 Gba1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24840 Gba2 Rat Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27249 Gba1 Rat Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27250 Gba3 Rat Pre-designed siRNA Set A Pre-designed Set / 否
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