Property Summary

NCBI Gene PubMed Count 56
PubMed Score 190.63
PubTator Score 795.84

Knowledge Summary

Patent (11,070)

Expression

  Differential Expression (10)

Disease log2 FC p
oligodendroglioma 1.500 1.4e-02
osteosarcoma -2.555 7.3e-03
posterior fossa group B ependymoma 1.300 4.1e-09
group 4 medulloblastoma -3.600 1.7e-11
astrocytoma 2.000 3.3e-02
atypical teratoid/rhabdoid tumor -2.200 1.1e-03
medulloblastoma, large-cell -3.500 1.7e-07
tuberculosis 1.100 8.5e-04
lung adenocarcinoma -1.300 1.7e-10
psoriasis -1.800 1.4e-51

Gene RIF (34)

PMID Text
26033718 The extracellular domain of GlialCAM is necessary for cell junction targeting and for mediating interactions with itself or with MLC1 and ClC-2.
25919557 Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1).
25497041 Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
24824219 we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
24561067 This study shows that in astrocytes MLC1 is expressed in early endosomes and recycled through the Rab11+ perinuclear compartment
24315536 clinical spectrum, neuroimaging characteristics and gene involvement in Egyptian patients with megalencephalic leukoencephalopathy with subcortical cysts; deletion/insertion mutation in exon 11 was recurrent in 2 families; a missense mutation in exon 10 was identified in the third family
23793458 results indicate GlialCAM is necessary for MLC1 protein expression, and its reduction affects the activity of volume-regulated anion currents (VRAC) which may cause astrocyte vacuolation; work extends the role of GlialCAM as a chaperone of MLC1 needed for proper VRAC activation
23495687 Proposed is a therapeutic approach for prevention of cardiac contractile dysfunction dependent on MLC1 phosphorylation and degradation.
22416245 Data show that wildtype MLC1(wt) was localized to the cell periphery, whereas mutant R22Q, A32V, G73E, S69L and T118M were trapped in the lumen of endoplasmic reticulum (ER).
22328087 that MLC1 plays a role in astrocyte osmo-homeostasis and that defects in intracellular calcium dynamics may contribute to MLC pathogenesis.
21624973 study presents more detailed characterization of the effect of mutations found in MLC1 and GLIALCAM megalencephalic leukoencephalopathy with subcortical cysts
21555057 The presence of the c.135_136insC mutation in 29 patients of the Agarwal community suggests a founder effect in Indian patients.
21440627 Reduction of MLC1 expression results in the appearance of astrocyte intracellular vacuoles. This vacuolation is reversed by the co-expression of human MLC1
21160490 Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephlopathy with subcortical cysts is reported.
21145992 Study detected five novel nucleotide variations in the entire coding region of the MLC1 gene.
20926452 through its interaction with ATP1B1, MLC1 is involved in the control of intracellular osmotic conditions and volume regulation in astrocytes, opening new perspectives for understanding the pathological mechanisms of MLC disease.
20560255 We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.
19931615 Because pathological mutations prevent MLC1 membrane expression, the identification of substances regulating MLC1 intracellular trafficking is potentially relevant for the therapy of MLC.
18330867 Prenatal diagnosis of megalencephalic leukodystrophy.
18165104 in the human brain, MLC1 protein is expressed in astrocyte processes and ependymal cells, where it colocalizes with dystroglycan and syntrophin
17210142 Observational study of gene-disease association. (HuGE Navigator)
16652334 13 novel mutations are associated with Megalencephalic leukoencephalopathy with subcortical cysts.
16470554 analysis of novel variants in MLC1 in patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts
16001658 MLC1 gene showed up-regulation expression at both the mRNA and protein levels in HCC tissues and that MLC1 plays an important role in the growth of hepatoma cell SMMC7721 in vitro and vivo.
15992519 Observational study of gene-disease association. (HuGE Navigator)
15992519 Association of MLC1 with SCZ and BPAD suggests involvement of a common pathway.
15037685 Thirty-three affected individuals with MLC were screened. All were from northern India and included 31 known Agarwals. All Agarwal patients were positive for homozygous insertion of a cytosine in exon 2
14615938 MLC1 may have a role in van der Knaap disease; it is mutated in patients
12939431 A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation.
12850517 A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLC1 gene
12497630 KIAA0027 alleles were evaluated for potential roles in susceptibility to megalencephalic leukoencephalopathy and schizophrenia.
12149273 physical and functional interaction with fortilin: its potential role as a fortilin chaperone
12111645 a novel polymorphism in exon 11 of the gene shows no association with schizophrenia
11935341 Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

AA Sequence

MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSL      1 - 70
YLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAI     71 - 140
NINFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAV    141 - 210
LGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLS    211 - 280
FSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERL    281 - 350
AGEVARSPLKEFDKEKAWRAVVVQMAQ                                               351 - 377
//

Text Mined References (54)

PMID Year Title
26908604 2016 Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
26033718 2015 Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.
25919557 2015 [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
25497041 2015 Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24824219 2014 Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
24561067 2014 Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
24315536 2014 Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
23793458 2013 Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
23495687 2013 Synergistic protection of MLC 1 against cardiac ischemia/reperfusion-induced degradation: a novel therapeutic concept for the future.
22416245 2012 Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.
22328087 2012 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.
21624973 2011 Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
21555057 2011 Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.
21440627 2011 Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
21160490 2011 Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
21145992 Novel mutations of the MLC1 gene in Turkish patients.
20926452 2011 The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.
20560255 Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
19931615 2010 MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.
18330867 2008 Prenatal diagnosis of megalencephalic leukodystrophy.
18165104 2008 Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17628813 2007 MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
17210142 2007 MLC1 polymorphisms are specifically associated with periodic catatonia, a subgroup of chronic schizophrenia.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16652334 2006 Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
16470554 2006 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16001658 Up-regulation expression of MLC1 in human liver cancer tissue and enhanced SMMC7721 cell tumorigenesis in vivo and vitro.
15992519 2005 MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India.
15892299 2005 MLC1: a novel protein in distal astroglial processes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15367490 2004 Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
15037685 2004 Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14615938 2003 A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
12939431 2003 Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
12850517 2003 A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12497630 2003 Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12189496 2002 Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12149273 2002 Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone.
12111645 2002 A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia.
11935341 2002 Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
11326298 2001 A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.
11254442 2001 Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
10591208 1999 The DNA sequence of human chromosome 22.
10376525 1999 Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity.
7584028 1994 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 (supplement).
7584026 1994 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.