Details for: MLC1

Gene ID: 23209

Symbol: MLC1

Ensembl ID: ENSG00000100427

Description: modulator of VRAC current 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.75
    Marker Score: 37,446
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.52
    Marker Score: 999
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7,518
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.04
    Marker Score: 901
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,816
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,040
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.97
    Marker Score: 2,469
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,334
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.93
    Marker Score: 1,753
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.91
    Marker Score: 579
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.9
    Marker Score: 290
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,286
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.83
    Marker Score: 408
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.79
    Marker Score: 595
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 570
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.71
    Marker Score: 288
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.69
    Marker Score: 500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.65
    Marker Score: 2,519
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.61
    Marker Score: 415
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.59
    Marker Score: 286
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 0.58
    Marker Score: 192
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.58
    Marker Score: 251
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.57
    Marker Score: 284
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.57
    Marker Score: 8,986
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1,158
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.55
    Marker Score: 4,690
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.55
    Marker Score: 467
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.55
    Marker Score: 287
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.54
    Marker Score: 5,450
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.53
    Marker Score: 141
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.52
    Marker Score: 313
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 0.52
    Marker Score: 1,518
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.52
    Marker Score: 182
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.5
    Marker Score: 507
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.49
    Marker Score: 368
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.46
    Marker Score: 247
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.45
    Marker Score: 1,838
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.45
    Marker Score: 113
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.42
    Marker Score: 346
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.4
    Marker Score: 293
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.4
    Marker Score: 294
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.39
    Marker Score: 111
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.38
    Marker Score: 3,857
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.36
    Marker Score: 207
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.36
    Marker Score: 242
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.36
    Marker Score: 372
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.35
    Marker Score: 234
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.35
    Marker Score: 97
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.34
    Marker Score: 173
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.34
    Marker Score: 442
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.33
    Marker Score: 1,976
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.33
    Marker Score: 139
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.32
    Marker Score: 307
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.3
    Marker Score: 131
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.29
    Marker Score: 602
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.29
    Marker Score: 143
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.28
    Marker Score: 69
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.27
    Marker Score: 211
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.26
    Marker Score: 123
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.25
    Marker Score: 87
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.25
    Marker Score: 156
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.24
    Marker Score: 108
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.24
    Marker Score: 208
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.22
    Marker Score: 315
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.21
    Marker Score: 73
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.2
    Marker Score: 196
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.2
    Marker Score: 494
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.19
    Marker Score: 114
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.18
    Marker Score: 144
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.18
    Marker Score: 310
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.18
    Marker Score: 94
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.17
    Marker Score: 114
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.17
    Marker Score: 98
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.17
    Marker Score: 155
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.17
    Marker Score: 202
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.17
    Marker Score: 49
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.16
    Marker Score: 74
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.16
    Marker Score: 94
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.15
    Marker Score: 228
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.15
    Marker Score: 69
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.15
    Marker Score: 98
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.15
    Marker Score: 209
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.15
    Marker Score: 33
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.15
    Marker Score: 51
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.15
    Marker Score: 47
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.15
    Marker Score: 62
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.15
    Marker Score: 147
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.15
    Marker Score: 1,694
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.14
    Marker Score: 47
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.14
    Marker Score: 191
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.14
    Marker Score: 95

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MLC1 is a membrane protein that belongs to the family of ion transport proteins. Its primary function is to regulate the VRAC current 1, which is essential for maintaining the proper balance of ions across the plasma membrane. MLC1 is significantly expressed in cells of the nervous system, including astrocytes, cerebral cortex GABAergic interneurons, and forebrain radial glial cells. Its expression is also observed in goblet cells and intestinal crypt stem cells, highlighting its potential role in maintaining epithelial barrier function. Notably, MLC1 is also involved in the regulation of response to osmotic stress and the positive regulation of intracellular transport. **Pathways and Functions:** MLC1 is involved in several cellular pathways, including: 1. **Basolateral plasma membrane**: MLC1 regulates the flow of ions across the plasma membrane, which is essential for maintaining cellular homeostasis. 2. **Caveolin-mediated endocytosis**: MLC1 interacts with caveolins, which are proteins involved in the regulation of endocytosis and cellular signaling. 3. **Clathrin-coated vesicle**: MLC1 is involved in the formation of clathrin-coated vesicles, which are essential for the regulation of intracellular transport. 4. **Cytoplasmic vesicle**: MLC1 regulates the movement of ions across the plasma membrane, which is essential for maintaining cellular homeostasis. 5. **Lysosome**: MLC1 is involved in the regulation of lysosomal function, which is essential for maintaining cellular homeostasis. **Clinical Significance:** The dysregulation of MLC1 has been implicated in various diseases, including neurological disorders such as epilepsy and Alzheimer's disease. For example, studies have shown that MLC1 is overexpressed in astrocytes of patients with epilepsy, suggesting that MLC1 may play a role in the regulation of ion flow across the plasma membrane in response to neuronal activity. Additionally, the dysregulation of MLC1 has been implicated in the pathogenesis of Alzheimer's disease, where MLC1 is involved in the regulation of lysosomal function and the clearance of amyloid-β peptides. In conclusion, MLC1 is a critical modulator of VRAC current 1, which plays a crucial role in maintaining cellular homeostasis, particularly in the context of the nervous system. Further research is needed to fully elucidate the functional roles of MLC1 in various cell types and its implications in disease pathogenesis.

Genular Protein ID: 1216626852

Symbol: MLC1_HUMAN

Name: Membrane protein MLC1

UniProtKB Accession Codes:

Q15049 B3KW61 B7Z659 Q5JZ83 Q8TAG4 Q96RP5 Q9UGY8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 23 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 3 SAM 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11326298

Title: A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.

PubMed ID: 11326298

DOI: 10.1038/sj.mp.4000869

PubMed ID: 7584026

Title: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.

PubMed ID: 7584026

DOI: 10.1093/dnares/1.1.27

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 22328087

Title: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.

PubMed ID: 22328087

DOI: 10.1093/hmg/dds032

PubMed ID: 11254442

Title: Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

PubMed ID: 11254442

DOI: 10.1086/319519

PubMed ID: 11935341

Title: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

PubMed ID: 11935341

DOI: 10.1007/s00439-002-0682-x

PubMed ID: 12189496

Title: Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

PubMed ID: 12189496

DOI: 10.1007/s00439-002-0770-y

PubMed ID: 16652334

Title: Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

PubMed ID: 16652334

DOI: 10.1002/humu.20332

Sequence Information:

  • Length: 377
  • Mass: 41141
  • Checksum: 9AF70B87D979F459
  • Sequence:
    • MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK TWVFSVLMGS 
CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV SRRNANVIPN FQILFVSTFA 
VTTTCLIWFG CKLVLNPSAI NINFNLILLL LLELLMAATV IIAARSSEED CKKKKGSMSD 
SANILDEVPF PARVLKSYSV VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF 
PSAIASHVAA ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS 
YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL AGEVARSPLK 
EFDKEKAWRA VVVQMAQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.