U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23209, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
membrane protein MLC1
Names
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

    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_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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools