1. Gene
  2. Cln3 - ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) Gene

Cln3 - ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) Gene

种属: Mus musculus

基因 ID: 12752 | 基因类型: protein coding

关于 Cln3

功能概要

This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as Other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Cln3 基因产物(11)

mRNA Protein Name
NM_001146311.3 NP_001139783.1 battenin isoform 1
NM_001329789.2 NP_001316718.1 battenin isoform 2
NM_001402715.1 NP_001389644.1 battenin isoform 1
NM_001402716.1 NP_001389645.1 battenin isoform 1
NM_001402717.1 NP_001389646.1 battenin isoform 1
NM_001402718.1 NP_001389647.1 battenin isoform 1
NM_001402719.1 NP_001389648.1 battenin isoform 1
NM_001402720.1 NP_001389649.1 battenin isoform 1
NM_001402721.1 NP_001389650.1 battenin isoform 2
NM_001402722.1 NP_001389651.1 battenin isoform 2
NM_009907.5 NP_034037.3 battenin isoform 1
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 calcium-dependent protein binding IPI
IPI: 通过物理相互作用推断
17189291 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
17189291 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within actin cytoskeleton organization IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within action potential IMP
IMP: 通过突变表型推断
16412658 MGI
acts upstream of or within amino acid transport IMP
IMP: 通过突变表型推断
16412658 MGI
acts upstream of or within associative learning IMP
IMP: 通过突变表型推断
15885820 MGI
acts upstream of or within autophagosome maturation IMP
IMP: 通过突变表型推断
16714284 MGI
involved in autophagosome-lysosome fusion IMP
IMP: 通过突变表型推断
26450516 MGI
acts upstream of or within blood vessel endothelial cell migration IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within endocytosis IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within establishment of localization in cell IMP
IMP: 通过突变表型推断
24792215 MGI
involved in intracellular water homeostasis IMP
IMP: 通过突变表型推断
20219947 MGI
acts upstream of or within ionotropic glutamate receptor signaling pathway IMP
IMP: 通过突变表型推断
16483786 MGI
involved in learning or memory IMP
IMP: 通过突变表型推断
29135436 MGI
involved in lysosomal protein catabolic process IMP
IMP: 通过突变表型推断
10527801 MGI
acts upstream of or within lysosome organization IMP
IMP: 通过突变表型推断
10191119 MGI
acts upstream of or within macroautophagy IMP
IMP: 通过突变表型推断
16714284 MGI
acts upstream of or within membrane organization IMP
IMP: 通过突变表型推断
15588329 MGI
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
10191118 MGI
acts upstream of or within negative regulation of catalytic activity IMP
IMP: 通过突变表型推断
17868323 MGI
acts upstream of or within negative regulation of neuron apoptotic process IDA
IDA: 通过直接分析推断
17189291 MGI
acts upstream of or within negative regulation of proteolysis IMP
IMP: 通过突变表型推断
10527801 MGI
acts upstream of or within neuromuscular process controlling balance IMP
IMP: 通过突变表型推断
16483786 MGI
involved in phagosome-lysosome docking IMP
IMP: 通过突变表型推断
26450516 MGI
involved in phagosome-lysosome fusion IMP
IMP: 通过突变表型推断
26450516 MGI
involved in plasma membrane raft organization IMP
IMP: 通过突变表型推断
24227717 MGI
involved in positive regulation of Golgi to plasma membrane protein transport IMP
IMP: 通过突变表型推断
24227717 MGI
involved in positive regulation of caveolin-mediated endocytosis IMP
IMP: 通过突变表型推断
24227717 MGI
involved in positive regulation of pinocytosis IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within positive regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within protein localization to membrane IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within protein localization to plasma membrane IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of protein phosphorylation IMP
IMP: 通过突变表型推断
24792215 MGI
acts upstream of or within protein processing IMP
IMP: 通过突变表型推断
15588329 MGI
involved in regulation of arginine biosynthetic process IMP
IMP: 通过突变表型推断
19284480 MGI
involved in regulation of autophagosome maturation IMP
IMP: 通过突变表型推断
26450516 MGI
involved in regulation of autophagosome size IMP
IMP: 通过突变表型推断
25878248 MGI
involved in regulation of autophagy IMP
IMP: 通过突变表型推断
27101989 MGI
acts upstream of or within regulation of cytosolic calcium ion concentration IDA
IDA: 通过直接分析推断
17189291 MGI
acts upstream of or within regulation of filopodium assembly IMP
IMP: 通过突变表型推断
24792215 MGI
involved in regulation of modification of synaptic structure IMP
IMP: 通过突变表型推断
29780879 MGI
involved in regulation of phagosome maturation IMP
IMP: 通过突变表型推断
26450516 MGI
involved in regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
18621045 MGI
involved in regulation of short-term neuronal synaptic plasticity IMP
IMP: 通过突变表型推断
29135436 MGI
involved in regulation of synaptic transmission, GABAergic IMP
IMP: 通过突变表型推断
29135436 MGI
involved in regulation of synaptic transmission, glutamatergic IMP
IMP: 通过突变表型推断
29135436 MGI
involved in renal potassium excretion IMP
IMP: 通过突变表型推断
20219947 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in autolysosome IDA
IDA: 通过直接分析推断
16714284 MGI
located in autophagosome IDA
IDA: 通过直接分析推断
16714284 MGI
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
17189291 MGI
located in early endosome IDA
IDA: 通过直接分析推断
15588329 MGI
located in late endosome IDA
IDA: 通过直接分析推断
15588329 MGI
located in lysosome IDA
IDA: 通过直接分析推断
11590129 MGI
located in membrane raft IDA
IDA: 通过直接分析推断
24227717 MGI
located in neuron projection IDA
IDA: 通过直接分析推断
11590129 MGI
located in trans-Golgi network IDA
IDA: 通过直接分析推断
24227717 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

battenin

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Cln3 NCBI NCBI:1201