Version 5.4
Mus musculus Gene: Mlc1
Summary
InnateDB Gene IDBG-172018.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mlc1
Gene Name megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000035805
Encoded Proteins
IDBP-172020
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
IDBP-262536
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000100427:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:88955884-88979007
Strand Reverse strand
Band E3
Transcripts
ENSMUST00000042594 ENSMUSP00000047667
ENSMUST00000109368 ENSMUSP00000104993
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008565 protein transporter activity
GO:0032403 protein complex binding
Biological Process
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0032388 positive regulation of intracellular transport
GO:0047484 regulation of response to osmotic stress
GO:0051259 protein oligomerization
GO:0071397 cellular response to cholesterol
GO:0072584 caveolin-mediated endocytosis
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0005911 cell-cell junction
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000100427
View Gene Order
ENSBTAG00000021626
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt Q8VHK5
TrEMBL E9QP87 Q80U92
UniProt Splice Variant
Entrez Gene 170790
UniGene Mm.32780
RefSeq NM_133241 XM_006520544 XM_006520545
OMIM
CCDS CCDS37173
HPRD
IMGT
MGI ID MGI:2157910
MGI Symbol Mlc1
EMBL AC119959 AF449425 AK030396 AK122190 BC024719 CH466550
GenPept AAH24719 AAL66020 BAC26941 BAC65472 EDL04388
RNA Seq Atlas 170790

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca