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

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
Title: Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Megalencephalic leukoencephalopathy with subcortical cysts MedGen: C1858854 GeneReviews: Megalencephalic Leukoencephalopathy with Subcortical Cysts	Compare labs
Megalencephalic leukoencephalopathy with subcortical cysts 1 MedGen: C5779875 OMIM: 604004 GeneReviews: Megalencephalic Leukoencephalopathy with Subcortical Cysts	Compare labs

EBI GWAS Catalog

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

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

WI-15332 (e-PCR)
- UniSTS:24837

RH77726 (e-PCR)
- UniSTS:71187

WI-15283 (e-PCR)
- UniSTS:46871

RH25265 (e-PCR)
- UniSTS:65115

WI-15513 (e-PCR)
- UniSTS:59621

STS-D25217 (e-PCR)
- UniSTS:64245

IB2001 (e-PCR)
- UniSTS:68343

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

NG_009162.1 RefSeqGene

Range

5504..31539

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

Q6NSL6
NM_001376480.1 → NP_001363409.1 membrane protein MLC1 isoform 3

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

Q6NSL6
NM_001376481.1 → NP_001363410.1 membrane protein MLC1 isoform 4

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

B7Z4G9
NM_001376482.1 → NP_001363411.1 membrane protein MLC1 isoform 5

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

B7Z1X1
NM_001376483.1 → NP_001363412.1 membrane protein MLC1 isoform 5

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

B7Z1X1
NM_001376484.1 → NP_001363413.1 membrane protein MLC1 isoform 6

Status: REVIEWED

Source sequence(s)

AL022327

UniProtKB/TrEMBL

B7Z1X1, B7Z2T9
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
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