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Mlc1
Gene Detail
 Symbol
Name
ID
Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
MGI:2157910
Synonyms Kiaa0027-hp, mKIAA0027, WKL1
Feature Type protein coding gene
Genetic Map
Chromosome 15
44.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr15:88955884-88979007 bp, - strand
From VEGA annotation of GRCm38

  23124 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15775  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mlc1

Human
homologs
Human Homolog MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1
NCBI Gene ID 23209
neXtProt AC  NX_Q15049
Human Synonyms  LVM, MLC, VL
Human Chr (Location)  22q13.33; chr22:50059391-50085929 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human MLC1
Alleles
and
phenotypes
All alleles(5) : Targeted(5)
Gene Ontology
(GO)
classifications
All GO classifications: (37 annotations)
Process caveolin-mediated endocytosis, cellular response to cholesterol, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function protein binding, protein complex binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (81)    Tissues (9)    Images (22)
Theiler Stages: 17, 23
Assay TypeResults
RNA in situ 80
RT-PCR 1
cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(39) cDNA(38) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000020982 (Evidence)
Ensembl Gene ModelENSMUSG00000035805 (Evidence)
Entrez Gene170790 (Evidence)
UniGene32780
DFCITC1575501, TC1651067
DoTSDT.40181528, DT.91553458, DT.94157529
NIA Mouse Gene IndexU036517
Consensus CDS ProjectCCDS37173.1
International Mouse Knockout Project StatusMlc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020982 VEGA Gene Model | MGI Sequence Detail 23124 C57BL/6J ±  kb
transcript OTTMUST00000049618 VEGA | MGI Sequence Detail 2801 Not Applicable 
polypeptide OTTMUSP00000023021 VEGA | MGI Sequence Detail 388 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) UniProt(4)
Polymorphisms SNPs within 2kb(120 from dbSNP Build 137)    SNPs within 2kb including multiple locations(128)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000010437 membrane protein MLC1
References (Earliest) J:76197 Leegwater PA, et al., Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet. 2002 Mar;110(3):279-83
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(38)
Other
accession IDs
MGI:2146178, MGI:2146258

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory