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

    Gene ID: 23209, updated on 4-Jan-2025

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (18 hits/1259 screens)

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    General gene information

    Clone Names

    • KIAA0027

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in caveolin-mediated endocytosis  
    involved_in cellular response to cholesterol  
    involved_in positive regulation of intracellular transport PubMed 
    involved_in protein transport  
    involved_in regulation of response to osmotic stress  
    involved_in regulation of response to osmotic stress PubMed 
    involved_in vesicle-mediated transport  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane PubMed 
    located_in caveola  
    located_in cell-cell junction PubMed 
    NOT located_in clathrin-coated vesicle  
    located_in cytoplasm PubMed 
    is_active_in cytoplasmic vesicle  
    located_in cytoplasmic vesicle PubMed 
    located_in cytosol  
    located_in early endosome  
    is_active_in endoplasmic reticulum  
    located_in endoplasmic reticulum PubMed 
    located_in endosome PubMed 
    located_in lysosome  
    located_in membrane PubMed 
    located_in membrane raft  
    located_in perinuclear region of cytoplasm PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in recycling endosome  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001376472.1NP_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_001376473.1NP_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_001376474.1NP_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_001376475.1NP_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_001376476.1NP_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_001376477.1NP_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_001376478.1NP_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_001376479.1NP_001363408.1  membrane protein MLC1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      Q6NSL6
    9. NM_001376480.1NP_001363409.1  membrane protein MLC1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      Q6NSL6
    10. NM_001376481.1NP_001363410.1  membrane protein MLC1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z4G9
    11. NM_001376482.1NP_001363411.1  membrane protein MLC1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1
    12. NM_001376483.1NP_001363412.1  membrane protein MLC1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1
    13. NM_001376484.1NP_001363413.1  membrane protein MLC1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL022327
      UniProtKB/TrEMBL
      B7Z1X1, B7Z2T9
    14. NM_015166.4NP_055981.1  membrane protein MLC1 isoform 1

      See identical proteins and their annotated locations for NP_055981.1

      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_139202.3NP_631941.1  membrane protein MLC1 isoform 1

      See identical proteins and their annotated locations for NP_631941.1

      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)
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