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Mlc1 Gene Detail
Summary
  • Symbol
    Mlc1
  • Name
    megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
  • Synonyms
    Kiaa0027-hp, mKIAA0027, WKL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2157910
    NCBI Gene: 170790
  • Gene Overview
    MyGene.info: MLC1
Location & Maps
more
  • Sequence Map
    Chr15:88955884-88979007 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      23124 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 44.46 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LVM, MLC, VL
  • Links
    NCBI Gene ID: 23209
    neXtProt AC: NX_Q15049

  • Chr Location
    22q13.33; chr22:50059391-50085929 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 15775
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: MLC1
  • Gene Tree
    Mlc1
Human Diseases
more
  • Diseases
    1 with human MLC1 associations

Human Disease Mouse Models
       Megalencephalic Leukoencephalopathy with Subcortical Cysts 1; MLC1   OMIM: 604004
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    7
  • Genomic Mutations
    3 involving Mlc1
  • Incidental Mutations
    Mutagenetix , APF
Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    36
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    81
  • Tissues
    9
  • cDNA Data
    38
  • Literature Summary
    4
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
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  • SNPs within 2kb
    123 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000010437 membrane protein MLC1
  • InterPro Domains
    IPR033280 Membrane protein MLC1
Molecular
Reagents
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  • All nucleic 39
    cDNA 38
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2146178, MGI:2146258
References
more
  • Summaries
    All 39
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 6
    Phenotypes 28
  • 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:214327 Sirisi S, et al., Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Hum Mol Genet. 2014 Oct 1;23(19):5069-86
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory