Details for: MLC1
Associated with
Other Information
Genular Protein ID: 1216626852
Symbol: MLC1_HUMAN
Name: Membrane protein MLC1
UniProtKB Accession Codes:
Database IDs:
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
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
PubMed ID: 12168954
Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
PubMed ID: 12168954
PubMed ID: 15461802
Title: A genome annotation-driven approach to cloning the human ORFeome.
PubMed ID: 15461802
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
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
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
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.