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)
Incidental mutations (data from Mutagenetix , APF )

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: (3 records)

Data Summary: Results (81)    Tissues (9)    Images (22)
Theiler Stages: 17, 23

Assay Type	Results
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 Model	OTTMUSG00000020982 (Evidence)
Ensembl Gene Model	ENSMUSG00000035805 (Evidence)
Entrez Gene	170790 (Evidence)
UniGene	32780
DFCI	TC1575501, TC1651067
DoTS	DT.40181528, DT.91553458, DT.94157529
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(38) RefSeq(6) UniProt(4)

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: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(39)

Other accession IDs

MGI:2146178, MGI:2146258