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    MLC1 modulator of VRAC current 1 [ Homo sapiens (human) ]

    Gene ID: 23209, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MLC1provided by HGNC
    Official Full Name
    modulator of VRAC current 1provided by HGNC
    Primary source
    HGNC:HGNC:17082
    See related
    Ensembl:ENSG00000100427 MIM:605908; AllianceGenome:HGNC:17082
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VL; LVM; MLC
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 57.6) and bone marrow (RPKM 11.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See MLC1 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50059391..50085875, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50566061..50592775, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50497820..50524304, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50437830-50438788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50438789-50439748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50439749-50440706 Neighboring gene interleukin 17 receptor E like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50451079-50451679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13948 Neighboring gene tubulin tyrosine ligase like 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50510246-50511128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50511129-50512010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50512330-50512836 Neighboring gene Sharpr-MPRA regulatory region 9327 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:50523503-50524127 Neighboring gene Mov10 like RNA helicase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19297 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50578307-50578491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50604117-50604668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50609993-50610685 Neighboring gene pannexin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. Duarri A, et al. Neurobiol Dis, 2011 Jul. PMID 21440627, Free PMC Article
    2. [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. Zhu LN, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2015 Apr. PMID 25919557
    3. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. Kariminejad A, et al. Eur J Med Genet, 2015 Feb. PMID 25497041
    4. A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia. McQuillin A, et al. Eur J Hum Genet, 2002 Aug. PMID 12111645
    5. Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis. Brignone MS, et al. Neurobiol Dis, 2014 Jun. PMID 24561067, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
      Title: Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
    2. MLC1 Overexpression Inhibits Tumor Progression through PI3K/AKT Signal Pathway in Prostate Cancer.
      Title: MLC1 Overexpression Inhibits Tumor Progression through PI3K/AKT Signal Pathway in Prostate Cancer.
    3. Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
      Title: Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
    4. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
      Title: A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
    5. Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
      Title: Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
    6. Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
      Title: Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
    7. Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
      Title: Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
    8. Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment.
      Title: Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment.
    9. misallocation of pathogenic mutant MLC1 may disturbs the stable cell-cell communication and the homeostatic regulation of astrocytes in patients with Megalencephalic leukoencephalopathy with subcortical cysts.
      Title: Plasma membrane localization of MLC1 regulates cellular morphology and motility.
    10. Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families.
      Title: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat increases permeability of human glomerular endothelial cells by activating Rho-A, pMLC, and c-Src pathways, which involves VEGF-A or FGF-2. PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0027

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in caveolin-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to cholesterol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of intracellular transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of response to osmotic stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in clathrin-coated vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    membrane protein MLC1
    Names
    megalencephalic leukoencephalopathy with subcortical cysts 1
    megalencephalic leukoencephalopathy with subcortical cysts protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009162.1 RefSeqGene

      Range
      5504..31539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376472.1 → NP_001363401.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    2. NM_001376473.1 → NP_001363402.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    3. NM_001376474.1 → NP_001363403.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    4. NM_001376475.1 → NP_001363404.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    5. NM_001376476.1 → NP_001363405.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    6. NM_001376477.1 → NP_001363406.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    7. NM_001376478.1 → NP_001363407.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6

    8. NM_001376479.1 → NP_001363408.1  membrane protein MLC1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      Q6NSL6

    9. NM_001376480.1 → NP_001363409.1  membrane protein MLC1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      Q6NSL6

    10. NM_001376481.1 → NP_001363410.1  membrane protein MLC1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z4G9

    11. NM_001376482.1 → NP_001363411.1  membrane protein MLC1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1

    12. NM_001376483.1 → NP_001363412.1  membrane protein MLC1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1

    13. NM_001376484.1 → NP_001363413.1  membrane protein MLC1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1, B7Z2T9

    14. NM_015166.4 → NP_055981.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6
      Related
      ENSP00000310375.6, ENST00000311597.10

    15. NM_139202.3 → NP_631941.1  membrane protein MLC1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022327
      Consensus CDS
      CCDS14083.1
      UniProtKB/Swiss-Prot
      B3KW61, B7Z659, Q15049, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
      UniProtKB/TrEMBL
      Q6NSL6
      Related
      ENSP00000379216.2, ENST00000395876.6

    RNA

    1. NR_164811.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022327

    2. NR_164812.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022327

    3. NR_164813.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022327

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50059391..50085875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50566061..50592775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15049.5 GenPept UniProtKB/Swiss-Prot:Q15049

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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