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|---|---|
| Accession Number: | Q15049 |
| Protein Name: | Membrane protein MLC1 |
| Length: | 377 |
| Molecular Weight: | 41141.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 8 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | |
Cross database links:
| Entrez Gene ID: | 23209 |
|---|---|
| KEGG: | hsa:23209 |
Gene Ontology
GO:0016324
C:apical plasma membrane
GO:0016323
C:basolateral plasma membrane
GO:0005901
C:caveola
GO:0005911
C:cell-cell junction
GO:0031410
C:cytoplasmic vesicle
GO:0005769
C:early endosome
GO:0005783
C:endoplasmic reticulum
GO:0016021
C:integral to membrane
GO:0000299
C:integral to membrane of membrane fraction
GO:0005764
C:lysosome
GO:0048471
C:perinuclear region of cytoplasm
GO:0055037
C:recycling endosome
GO:0005216
F:ion channel activity
GO:0008565
F:protein transporter activity
GO:0072584
P:caveolin-mediated endocytosis
GO:0071397
P:cellular response to cholesterol
GO:0032388
P:positive regulation of intracellular transport
GO:0051259
P:protein oligomerization
GO:0047484
P:regulation of response to osmotic stress
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References (13)[1] “A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.” Meyer J.et.al. 11326298 [2] “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.” Nomura N.et.al. 7584026 [3] “Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.” Nakajima D.et.al. 12168954 [4] “A genome annotation-driven approach to cloning the human ORFeome.” Collins J.E.et.al. 15461802 [5] “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Ota T.et.al. 14702039 [6] “The DNA sequence of human chromosome 22.” Dunham I.et.al. 10591208 [7] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [8] “Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.” Gevaert K.et.al. 12665801 [9] “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.” Lanciotti A.et.al. 22328087 [10] “Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.” Leegwater P.A.J.et.al. 11254442 [11] “Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.” Leegwater P.A.J.et.al. 11935341 [12] “Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.” Ben-Zeev B.et.al. 12189496 [13] “Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.” Ilja Boor P.K.et.al. 16652334
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK TWVFSVLMGS 61: CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV SRRNANVIPN FQILFVSTFA 121: VTTTCLIWFG CKLVLNPSAI NINFNLILLL LLELLMAATV IIAARSSEED CKKKKGSMSD 181: SANILDEVPF PARVLKSYSV VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF 241: PSAIASHVAA ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS 301: YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL AGEVARSPLK 361: EFDKEKAWRA VVVQMAQ