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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:88840087-88863192 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 44.46 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    119 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2157910
 protein coding gene Chr15:88840087-88863210 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022212
 protein coding gene Chr15:90121334-90148076 (-)
A/J MGP_AJ_G0022171
 protein coding gene Chr15:86682903-86705087 (-)
AKR/J MGP_AKRJ_G0022146
 protein coding gene Chr15:89247883-89269872 (-)
BALB/cJ MGP_BALBcJ_G0022177
 protein coding gene Chr15:86783957-86804937 (-)
C3H/HeJ MGP_C3HHeJ_G0021947
 protein coding gene Chr15:89233481-89256713 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022622
 protein coding gene Chr15:93395553-93426223 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020147
 protein coding gene Chr15:82913337-82933900 (-)
CAST/EiJ MGP_CASTEiJ_G0021469
 protein coding gene Chr15:90020010-90041427 (-)
CBA/J MGP_CBAJ_G0021914
 protein coding gene Chr15:96566680-96590931 (-)
DBA/2J MGP_DBA2J_G0022041
 protein coding gene Chr15:86135024-86157039 (-)
FVB/NJ MGP_FVBNJ_G0022020
 protein coding gene Chr15:85204660-85225975 (-)
LP/J MGP_LPJ_G0022112
 protein coding gene Chr15:90288133-90318223 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022040
 protein coding gene Chr15:100998126-101020502 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022637
 protein coding gene Chr15:89275709-89298254 (-)
PWK/PhJ MGP_PWKPhJ_G0021210
 protein coding gene Chr15:86181563-86202698 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021044
 protein coding gene Chr15:89020265-89042701 (-)
WSB/EiJ MGP_WSBEiJ_G0021518
 protein coding gene Chr15:89765833-89789189 (-)



Homology
more
  • Human Ortholog
    MLC1, modulator of VRAC current 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MLC1, modulator of VRAC current 1
  • Synonyms
    LVM, MLC, VL
  • Links
    NCBI Gene ID: 23209
    neXtProt AC: NX_Q15049
    UniProt: Q15049

  • Chr Location
    22q13.33; chr22:50059391-50085929 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Mlc1 mouse models; 1 with human MLC1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 5 alleles in 5 genetic backgrounds
    37 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    41
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    783
  • Tissues
    24
  • cDNA Data
    39
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170790 NCBI Gene Model | MGI Sequence Detail 23106 C57BL/6J ±  kb
    transcript NM_001364855 RefSeq | MGI Sequence Detail 2783 C57BL/6  
    polypeptide Q8VHK5 UniProt | EBI | MGI Sequence Detail 382 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 39
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146178, MGI:2146258
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 7
      Diseases 3
      Gene Ontology 7
      Phenotypes 37
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:321493 Dubey M, et al., Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. Ann Neurol. 2018 Mar;83(3):636-649
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    06/28/2022
    MGI 6.20     		The Jackson Laboratory