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

Gene ID: 23209, updated on 5-Mar-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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Location:
22q13.33
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50059391..50085875, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50566061..50592775, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families. Khalaf-Nazzal R, et al. Brain Dev, 2022 Aug. PMID 35440380
  2. 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. Ain Ul Batool S, et al. Am J Med Genet A, 2022 Apr. PMID 34918859
  3. Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1. Hwang J, et al. Open Biol, 2021 Dec. PMID 34847774, Free PMC Article
  4. Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment. Lattier JM, et al. Oncogene, 2020 Dec. PMID 33040087, Free PMC Article
  5. Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes. Lanciotti A, et al. Cells, 2020 Jun 8. PMID 32521795, Free PMC Article

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
    Title: Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. MLC1 contributes to restore astrocyte homeostasis after inflammation.
    Title: Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
Submit: New GeneRIF Correction See all GeneRIFs (50)

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)

Genotypes

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 monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
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
  
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

NCBI Reference Sequences (RefSeq)

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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

    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_139202.3 → NP_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_2023_10

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

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