Entity Details

Primary name MLC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15049
EntryNameMLC1_HUMAN
FullNameMembrane protein MLC1
TaxID9606
Evidenceevidence at protein level
Length377
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesMLC1

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0015031 protein transport
GO:0016021 integral component of membrane
GO:0016192 vesicle-mediated transport
GO:0016323 basolateral plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0032388 positive regulation of intracellular transport
GO:0042802 identical protein binding
GO:0044877 protein-containing complex binding
GO:0045121 membrane raft
GO:0047484 regulation of response to osmotic stress
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0071397 cellular response to cholesterol
GO:0072584 caveolin-mediated endocytosis

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Endoplasmic reticulum
Membrane

Domains

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DomainNameCategoryType
IPR033280 Membrane protein MLC1FamilyFamily

Diseases

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Disease IDSourceNameDescription
604004 OMIMLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. The disease is caused by variants affecting the gene represented in this entry.