Cln3 - ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) Gene
Species: Mus musculus
Summary
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 Products (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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium-dependent protein binding |
IPI
IPI: Inferred from physical interaction
|
17189291 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17189291 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in autolysosome |
IDA
IDA: Inferred from direct assay
|
16714284 | MGI |
| located in autophagosome |
IDA
IDA: Inferred from direct assay
|
16714284 | MGI |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
17189291 | MGI |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
15588329 | MGI |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
15588329 | MGI |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
11590129 | MGI |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
24227717 | MGI |
| located in neuron projection |
IDA
IDA: Inferred from direct assay
|
11590129 | MGI |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
24227717 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
battenin |
|