Homo sapiens Gene: MLC1
Summary
InnateDB Gene IDBG-12765.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLC1
Gene Name megalencephalic leukoencephalopathy with subcortical cysts 1
Synonyms LVM; MLC; VL;
Species Homo sapiens
Ensembl Gene ENSG00000100427
Encoded Proteins
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:50059391-50085902
Strand Reverse strand
Band q13.33
Transcripts
ENST00000311597 ENSP00000310375
ENST00000395876 ENSP00000379216
ENST00000442311 ENSP00000401385
ENST00000483836
ENST00000470008
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0008565 protein transporter activity
GO:0032403 protein complex binding
Biological Process
GO:0006810 transport
GO:0006811 ion transport
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
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
Integrin signaling pathway [Biocarta view]
Mcalpain and friends in cell motility [Biocarta view]
Erk and pi-3 kinase are necessary for collagen binding in corneal epithelia [Biocarta view]
PID NCI
Cross-References
SwissProt Q15049
TrEMBL A0A024R4V4 A6PVC3 B7Z2T9
UniProt Splice Variant
Entrez Gene 23209
UniGene Hs.517729 Hs.627639
RefSeq NM_015166 NM_139202
HUGO HGNC:17082
OMIM 605908
CCDS CCDS14083
HPRD
IMGT
EMBL AF319633 AK124264 AK295106 AL022327 BC028425 CH471138 CR456460 D25217
GenPept AAH28425 AAK60119 BAA04947 BAG54023 BAH11975 CAG30346 CAI42687 EAW73490 EAW73491
RNA Seq Atlas 23209