MLC1
Summary: The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| megalencephalic leukoencephalopathy with subcortical cysts 1 | MIM:605908 | Ensembl:ENSG00000100427 | HGNC:HGNC:17082 | PA38199 | 22q13.33 |
Gene Categories:
TRANSPORTERGO terms in MLC1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005764 | lysosome |
| CC | IDA | GO:0005768 | endosome |
| CC | ISS | GO:0005769 | early endosome |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005901 | caveola |
| CC | IEA | GO:0005911 | cell-cell junction |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IEA | GO:0016324 | apical plasma membrane |
| CC | ISS | GO:0030136 | clathrin-coated vesicle |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
| CC | ISS | GO:0045121 | membrane raft |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | ISS | GO:0055037 | recycling endosome |
| BP | IEA | GO:0006811 | ion transport |
| BP | IEA | GO:0015031 | protein transport |
| BP | ISS | GO:0016192 | vesicle-mediated transport |
| BP | IDA | GO:0032388 | positive regulation of intracellular transport |
| BP | IMP | GO:0047484 | regulation of response to osmotic stress |
| BP | IDA | GO:0051259 | protein complex oligomerization |
| BP | ISS | GO:0071397 | cellular response to cholesterol |
| BP | ISS | GO:0072584 | caveolin-mediated endocytosis |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0008565 | protein transporter activity |
| MF | IDA | GO:0044877 | protein-containing complex binding |
Gene expression in normal tissue: MLC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLC1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | ecmpathway | erk and pi-3 kinase are necessary for collagen binding in corneal epithelia |
| biocarta | integrinpathway | integrin signaling pathway |
| biocarta | mcalpainpathway | mcalpain and friends in cell motility |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLC1
CLASSFICATION
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