Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MLC1 Gene

Aliases for MLC1 Gene

  • Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 2 3
  • LVM 3 6
  • VL 3 6
  • Membrane Protein MLC1 3
  • KIAA0027 4
  • WKL1 4
  • MLC 3

External Ids for MLC1 Gene

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

Genomic Location for MLC1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLC1 Gene

Regulatory Elements 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 for MLC1 Gene

Protein Domains for MLC1 Gene

Blocks:
ProtoNet:
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.

Gene Ontology (GO) - Molecular Function for MLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 11254442
GO:0005515 protein binding IPI 17628813
GO:0008565 protein transporter activity ISS --
GO:0032403 protein complex binding IDA 17628813
genes like me logo Genes that share ontologies with MLC1: view

Phenotypes for MLC1 Gene

MGI mutant phenotypes for MLC1:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with MLC1: view

Animal Models for MLC1 Gene

MGI Knock Outs for MLC1:

miRNA for MLC1 Gene

miRTarBase miRNAs that target MLC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
endosome 4
lysosome 4
vacuole 4
cytoskeleton 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15892299
GO:0005764 lysosome ISS --
GO:0005768 endosome IDA 18165104
GO:0005769 early endosome ISS --
GO:0005783 endoplasmic reticulum IDA 15367490
genes like me logo Genes that share ontologies with MLC1: view

Pathways 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 Qiagen pathway for MLC1 Gene

Gene Ontology (GO) - Biological Process for MLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 11254442
GO:0006811 ion transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport ISS --
GO:0032388 positive regulation of intracellular transport IDA 19931615
genes like me logo Genes that share ontologies with MLC1: view

Compounds for MLC1 Gene

(3) Novoseek inferred chemical compound relationships for MLC1 Gene

Compound -log(P) Hits PubMed IDs
mannose 24.4 1
leucine 11.1 1
glucose 0 1
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) (6.6), Brain - Nucleus accumbens (basal ganglia) (6.4), Brain - Amygdala (6.3), Brain - Putamen (basal ganglia) (5.6), and Brain - Hippocampus (4.1).

Integrated Proteomics: protein expression 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 expressions with MLC1: view

Orthologs for MLC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLC1 36
  • 94.17 (n)
  • 93.41 (a)
MLC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLC1 36
  • 81.84 (n)
  • 81.57 (a)
MLC1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLC1 36
  • 82.29 (n)
  • 85.64 (a)
MLC1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlc1 36
  • 83.69 (n)
  • 89.36 (a)
Mlc1 16
Mlc1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLC1 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLC1 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlc1 36
  • 83.07 (n)
  • 88.83 (a)
chicken
(Gallus gallus)
Aves MLC1 36
  • 69.87 (n)
  • 73.87 (a)
MLC1 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLC1 37
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlc1 36
  • 61.04 (n)
  • 57.37 (a)
zebrafish
(Danio rerio)
Actinopterygii mlc1 36
  • 62.27 (n)
  • 56.18 (a)
mlc1 37
  • 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 MAF
rs79301 -- 50,080,294(+) CTGTC(A/G)GCCCC intron-variant
rs137919 -- 50,061,535(+) TTCCA(C/T)GCTTG utr-variant-3-prime, nc-transcript-variant
rs137920 -- 50,062,630(+) GCACC(A/G)AGGTT intron-variant
rs137921 -- 50,063,256(+) GATCA(C/T)GAGGT intron-variant
rs137922 -- 50,071,246(+) ACCAC(C/T)ACACC intron-variant

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

Relevant External Links for MLC1 Gene

HapMap Linkage Disequilibrium report
MLC1
Human Gene Mutation Database (HGMD)
MLC1

Disorders for MLC1 Gene

(1) OMIM Diseases for MLC1 Gene (605908)

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.

(9) Novoseek inferred disease relationships for MLC1 Gene

Disease -log(P) Hits PubMed IDs
schizophrenia catatonic 88.6 5
macrocephaly 87.7 1
myelinopathy 75.2 1
leukodystrophy 73.8 5
cysts 73.2 23

Relevant External Links for MLC1

GeneTests
MLC1
GeneReviews
MLC1
Genetic Association Database (GAD)
MLC1
Human Genome Epidemiology (HuGE) Navigator
MLC1
genes like me logo Genes that share disorders with MLC1: view

Publications for MLC1 Gene

  1. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (PMID: 11254442) Leegwater P.A.J. … van der Knapp M.S. (Am. J. Hum. Genet. 2001) 3 4 23
  2. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. (PMID: 11935341) Leegwater P.A.J. … van der Knaap M.S. (Hum. Genet. 2002) 3 4 23
  3. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. (PMID: 12189496) Ben-Zeev B. … Pras E. (Hum. Genet. 2002) 3 4 23
  4. MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. (PMID: 15992519) Verma R. … Brahmachari S.K. (Biol. Psychiatry 2005) 3 23 49
  5. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (PMID: 16652334) Ilja Boor P.K. … Pronk J.C. (Hum. Mutat. 2006) 3 4 23

Products for MLC1 Gene

Sources for MLC1 Gene

Back to Top

Content