ATL1
Summary: The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| atlastin GTPase 1 | MIM:606439 | Ensembl:ENSG00000198513 | HGNC:HGNC:11231 | PA36061 | 14q22.1 |
GO terms in ATL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0007029 | endoplasmic reticulum organization |
| BP | ISS | GO:0007409 | axonogenesis |
| BP | IDA | GO:0051260 | protein homooligomerization |
| BP | IMP | GO:1990809 | endoplasmic reticulum tubular network membrane organization |
| CC | ISS | GO:0000137 | Golgi cis cisterna |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | ISS | GO:0005789 | endoplasmic reticulum membrane |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030424 | axon |
| CC | ISS | GO:0071782 | endoplasmic reticulum tubular network |
| CC | IDA | GO:0098826 | endoplasmic reticulum tubular network membrane |
| MF | IDA | GO:0003924 | GTPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0005525 | GTP binding |
| MF | IDA | GO:0042802 | identical protein binding |
| MF | IPI | GO:0042802 | identical protein binding |
Gene expression in normal tissue: ATL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATL1
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATL1
CLASSFICATION
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