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Aliases for MLC1 Gene

Aliases for MLC1 Gene

  • Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 2 3 5
  • KIAA0027 4
  • WKL1 4
  • LVM 3
  • MLC 3
  • VL 3

External Ids for MLC1 Gene

Previous GeneCards Identifiers for MLC1 Gene

  • GC22M047049
  • GC22M048679
  • GC22M048800
  • GC22M050497
  • GC22M033395

Summaries for MLC1 Gene

Entrez Gene Summary for MLC1 Gene

  • The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for MLC1 Gene

MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1) is a Protein Coding gene. Diseases associated with MLC1 include Megalencephalic Leukoencephalopathy With Subcortical Cysts and Mlc1-Related Megalencephalic Leukoencephalopathy With Subcortical Cysts. Among its related pathways are Colorectal Cancer Metastasis. GO annotations related to this gene include transporter activity and protein transporter activity.

UniProtKB/Swiss-Prot for MLC1 Gene

  • Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.

Gene Wiki entry for MLC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLC1 Gene

Genomics for MLC1 Gene

Regulatory Elements for MLC1 Gene

Enhancers for MLC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MLC1 on UCSC Golden Path with GeneCards custom track

Promoters for MLC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MLC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MLC1 Gene

Chromosome:
22
Start:
50,059,391 bp from pter
End:
50,085,929 bp from pter
Size:
26,539 bases
Orientation:
Minus strand

Genomic View for MLC1 Gene

Genes around MLC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLC1 Gene

Proteins for MLC1 Gene

  • Protein details for MLC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15049-MLC1_HUMAN
    Recommended name:
    Membrane protein MLC1
    Protein Accession:
    Q15049
    Secondary Accessions:
    • B3KW61
    • B7Z659
    • Q5JZ83
    • Q8TAG4
    • Q96RP5
    • Q9UGY8

    Protein attributes for MLC1 Gene

    Size:
    377 amino acids
    Molecular mass:
    41141 Da
    Quaternary structure:
    • Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.
    SequenceCaution:
    • Sequence=BAA04947.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MLC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLC1 Gene

Proteomics data for MLC1 Gene at MOPED

Post-translational modifications for MLC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLC1 Gene

No data available for DME Specific Peptides for MLC1 Gene

Domains & Families for MLC1 Gene

Protein Domains for MLC1 Gene

Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MLC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MLC1 Gene

Function for MLC1 Gene

Molecular function for MLC1 Gene

UniProtKB/Swiss-Prot Function:
Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.
genes like me logo Genes that share phenotypes with MLC1: view

Human Phenotype Ontology for MLC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MLC1 Gene

MGI Knock Outs for MLC1:

Animal Model Products

miRNA for MLC1 Gene

miRTarBase miRNAs that target MLC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MLC1 Gene

Localization for MLC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLC1 Gene

Membrane; Multi-pass membrane protein. Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLC1 Gene COMPARTMENTS Subcellular localization image for MLC1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
plasma membrane 5
vacuole 5
lysosome 4

Gene Ontology (GO) - Cellular Components for MLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 18165104
GO:0005769 early endosome IEA,ISS --
GO:0005783 endoplasmic reticulum IEA,IDA 15367490
GO:0016323 basolateral plasma membrane IDA 18165104
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with MLC1: view

Pathways & Interactions for MLC1 Gene

SuperPathways for MLC1 Gene

genes like me logo Genes that share pathways with MLC1: view

Pathways by source for MLC1 Gene

1 GeneTex pathway for MLC1 Gene
1 Qiagen pathway for MLC1 Gene

Gene Ontology (GO) - Biological Process for MLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071397 cellular response to cholesterol IEA,ISS --
genes like me logo Genes that share ontologies with MLC1: view

No data available for SIGNOR curated interactions for MLC1 Gene

Drugs & Compounds for MLC1 Gene

(1) Drugs for MLC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MLC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLC1: view

Transcripts for MLC1 Gene

Unigene Clusters for MLC1 Gene

Megalencephalic leukoencephalopathy with subcortical cysts 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MLC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a ·
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - -
SP8: - - - - - - - - -
SP9: - - - - - -
SP10: - - - - -
SP11: - - - -
SP12:
SP13:
SP14: - - -
SP15: - - - -
SP16: - - -
SP17: - - - - -
SP18: - - - -
SP19: - - - - - - - - - - - - - - - - - - -
SP20: -

ExUns: 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - - - - - - - - - -
SP20:

Relevant External Links for MLC1 Gene

GeneLoc Exon Structure for
MLC1
ECgene alternative splicing isoforms for
MLC1

Expression for MLC1 Gene

mRNA expression in normal human tissues for MLC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MLC1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x6.6), Brain - Nucleus accumbens (basal ganglia) (x6.4), Brain - Amygdala (x6.3), Brain - Putamen (basal ganglia) (x5.6), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for MLC1 Gene

This gene is overexpressed in Spinal cord (26.7), Brain (14.7), and Frontal cortex (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MLC1 Gene



SOURCE GeneReport for Unigene cluster for MLC1 Gene Hs.517729

mRNA Expression by UniProt/SwissProt for MLC1 Gene

Q15049-MLC1_HUMAN
Tissue specificity: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.
genes like me logo Genes that share expression patterns with MLC1: view

Protein tissue co-expression partners for MLC1 Gene

- Elite partner

Primer Products

Orthologs for MLC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MLC1 35
  • 81.84 (n)
  • 81.57 (a)
MLC1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLC1 35
  • 82.29 (n)
  • 85.64 (a)
MLC1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlc1 35
  • 83.69 (n)
  • 89.36 (a)
Mlc1 16
Mlc1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MLC1 35
  • 94.17 (n)
  • 93.41 (a)
MLC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlc1 35
  • 83.07 (n)
  • 88.83 (a)
oppossum
(Monodelphis domestica)
Mammalia MLC1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLC1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLC1 35
  • 69.87 (n)
  • 73.87 (a)
MLC1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLC1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlc1 35
  • 61.04 (n)
  • 57.37 (a)
zebrafish
(Danio rerio)
Actinopterygii mlc1 35
  • 62.27 (n)
  • 56.18 (a)
mlc1 36
  • 52 (a)
OneToOne
Species with no ortholog for MLC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLC1 Gene

ENSEMBL:
Gene Tree for MLC1 (if available)
TreeFam:
Gene Tree for MLC1 (if available)

Paralogs for MLC1 Gene

No data available for Paralogs for MLC1 Gene

Variants for MLC1 Gene

Sequence variations from dbSNP and Humsavar for MLC1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs80358245 Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) 50,080,387(-) CCCCT(C/T)GGCAA nc-transcript-variant, reference, missense
rs281875316 Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) 50,079,988(-) TTCCA(C/G/T)GTTTG nc-transcript-variant, reference, missense
rs281875317 Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) 50,074,296(-) TCCTC(A/G)GGGGG nc-transcript-variant, reference, missense
rs121908341 Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) 50,068,488(-) TCTGT(C/T)ATTCA nc-transcript-variant, reference, missense
rs80358240 - 50,064,168(-) TGCTG(A/C)TGCTA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MLC1 Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
dgv5049n71 CNV Loss 21882294
nsv915508 CNV Loss 21882294
dgv5051n71 CNV Loss 21882294
dgv5053n71 CNV Loss 21882294
nsv915519 CNV Loss 21882294
dgv582n27 CNV Gain 19166990
nsv471222 CNV Gain 18288195
nsv915521 CNV Loss 21882294
nsv915523 CNV Loss 21882294
esv2724743 CNV Deletion 23290073
esv2742912 CNV Deletion 23290073
nsv191459 CNV Loss 16902084
esv2675444 CNV Deletion 23128226
esv988880 CNV Deletion 20482838
esv2724744 CNV Deletion 23290073
esv1248188 CNV Insertion 17803354
esv2724745 CNV Deletion 23290073
nsv191402 CNV Loss 16902084
esv2724746 CNV Deletion 23290073
esv999455 CNV Deletion 20482838
esv1593397 CNV Deletion 17803354

Variation tolerance for MLC1 Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.08; 80.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLC1 Gene

Human Gene Mutation Database (HGMD)
MLC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLC1 Gene

Disorders for MLC1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MLC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megalencephalic leukoencephalopathy with subcortical cysts
  • vacuolating megalencephalic leukoencephalopathy with subcortical cysts
mlc1-related megalencephalic leukoencephalopathy with subcortical cysts
l-2-hydroxyglutaric aciduria
  • l-2-hydroxyglutaric acidemia
megalencephaly
  • macrencephaly
aortic valve insufficiency
  • aortic incompetence
- elite association - COSMIC cancer census association via MalaCards
Search MLC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MLC1_HUMAN
  • Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]: A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. {ECO:0000269 PubMed:11254442, ECO:0000269 PubMed:11935341, ECO:0000269 PubMed:12189496, ECO:0000269 PubMed:16652334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MLC1

Genetic Association Database (GAD)
MLC1
Human Genome Epidemiology (HuGE) Navigator
MLC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLC1
genes like me logo Genes that share disorders with MLC1: view

No data available for Genatlas for MLC1 Gene

Publications for MLC1 Gene

  1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N. … Tabata S. (DNA Res. 1994) 2 3 4 67
  2. MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. (PMID: 19931615) Lanciotti A. … Ambrosini E. (Neurobiol. Dis. 2010) 3 23
  3. Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex. (PMID: 18165104) Ambrosini E. … Aloisi F. (Mol. Cell. Neurosci. 2008) 3 23
  4. MLC1 polymorphisms are specifically associated with periodic catatonia, a subgroup of chronic schizophrenia. (PMID: 17210142) Selch S. … Reif A. (Biol. Psychiatry 2007) 3 23
  5. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. (PMID: 17628813) Boor I. … van der Knaap M.S. (Acta Neuropathol. 2007) 3 23

Products for MLC1 Gene

Sources for MLC1 Gene

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