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 western clawed frog; 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

Mutations,
alleles, and
phenotypes

All mutations/alleles(6) : Radiation induced(1) Targeted(5)
Genomic Mutations involving Mlc1 (1)
Incidental mutations (data from Mutagenetix , APF )
Phenotype Images(2)

Interactions

Mlc1 interacts with 176 markers (Mir15a, Mir22, Mir23a, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (36 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: (4 records)

Data Summary: Results (81)    Tissues (9)    Images (22)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	80
RT-PCR	1

cDNA source data(38)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(39) cDNA(38) Primer pair(1)
Microarray probesets(4)

Other database
links

VEGA Gene Model	OTTMUSG00000020982 (Evidence)
Ensembl Gene Model	ENSMUSG00000035805 (Evidence)
Entrez Gene	170790 (Evidence)
UniGene	32780
DFCI	TC1651067, TC1575501
DoTS	DT.94157529, DT.91553458, DT.40181528
NIA Mouse Gene Index	U036517
Consensus CDS Project	CCDS37173.1
International Mouse Knockout Project Status	Mlc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020982	VEGA Gene Model | MGI Sequence Detail	23124	C57BL/6J
transcript	OTTMUST00000049618	VEGA | MGI Sequence Detail	2801	Not Applicable
polypeptide	OTTMUSP00000023021	VEGA | MGI Sequence Detail	388	Not Applicable

All sequences(41) RefSeq(6) UniProt(7)

Polymorphisms

SNPs within 2kb(120 from dbSNP Build 137)    SNPs within 2kb including multiple locations(128)

Protein-related
information

Resource	ID	Description
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:205051 Miller JA, et al., Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates. Development. 2013 Nov;140(22):4633-44
All references(40)

Other
accession IDs

MGI:2146178, MGI:2146258