MLC1_HUMAN
ID MLC1_HUMAN Reviewed; 377 AA.
AC Q15049; B3KW61; B7Z659; Q5JZ83; Q8TAG4; Q96RP5; Q9UGY8;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 5.
DT 03-AUG-2022, entry version 184.
DE RecName: Full=Membrane protein MLC1;
GN Name=MLC1; Synonyms=KIAA0027, WKL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY,
RP AND VARIANT MET-309.
RC TISSUE=Hippocampus;
RX PubMed=11326298; DOI=10.1038/sj.mp.4000869;
RA Meyer J., Huberth A., Ortega G., Syagailo Y.V., Jatzke S., Moessner R.,
RA Strom T.M., Ulzheimer-Teuber I., Stoeber G., Schmitt A., Lesch K.P.;
RT "A missense mutation in a novel gene encoding a putative cation channel is
RT associated with catatonic schizophrenia in a large pedigree.";
RL Mol. Psychiatry 6:302-306(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
RX PubMed=7584026; DOI=10.1093/dnares/1.1.27;
RA Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S.,
RA Nagase T., Seki N., Ishikawa K., Tabata S.;
RT "Prediction of the coding sequences of unidentified human genes. I. The
RT coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of
RT randomly sampled cDNA clones from human immature myeloid cell line KG-1.";
RL DNA Res. 1:27-35(1994).
RN [3]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP PROTEIN SEQUENCE OF 2-14.
RC TISSUE=Platelet;
RX PubMed=12665801; DOI=10.1038/nbt810;
RA Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R.,
RA Vandekerckhove J.;
RT "Exploring proteomes and analyzing protein processing by mass spectrometric
RT identification of sorted N-terminal peptides.";
RL Nat. Biotechnol. 21:566-569(2003).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH ATP1B1, AND
RP CHARACTERIZATION OF VARIANTS MLC1 ARG-125; ARG-246 AND LEU-280.
RX PubMed=22328087; DOI=10.1093/hmg/dds032;
RA Lanciotti A., Brignone M.S., Molinari P., Visentin S., De Nuccio C.,
RA Macchia G., Aiello C., Bertini E., Aloisi F., Petrucci T.C., Ambrosini E.;
RT "Megalencephalic leukoencephalopathy with subcortical cysts protein 1
RT functionally cooperates with the TRPV4 cation channel to activate the
RT response of astrocytes to osmotic stress: dysregulation by pathological
RT mutations.";
RL Hum. Mol. Genet. 21:2166-2180(2012).
RN [11]
RP VARIANTS MLC1 LEU-93; ARG-118; ARG-212 AND LEU-280.
RX PubMed=11254442; DOI=10.1086/319519;
RA Leegwater P.A.J., Yuan B.Q., van der Steen J., Mulders J., Koenst A.A.M.,
RA Ilja Boor P.K., Mejaski-Bosnjak V., van der Maarel S.M., Frants R.R.,
RA Oudejans C.B.M., Schutgens R.B.H., Pronk J.C., van der Knapp M.S.;
RT "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause
RT megalencephalic leukoencephalopathy with subcortical cysts.";
RL Am. J. Hum. Genet. 68:831-838(2001).
RN [12]
RP VARIANTS MLC1 SER-92; ARG-125; LYS-141; SER-141 AND ARG-246.
RX PubMed=11935341; DOI=10.1007/s00439-002-0682-x;
RA Leegwater P.A.J., Boor P.K.I., Yuan B.Q., van der Steen J., Visser A.,
RA Konst A.A.M., Oudejans C.B.M., Schutgens R.B.H., Pronk J.C.,
RA van der Knaap M.S.;
RT "Identification of novel mutations in MLC1 responsible for megalencephalic
RT leukoencephalopathy with subcortical cysts.";
RL Hum. Genet. 110:279-283(2002).
RN [13]
RP VARIANT MLC1 GLU-59.
RX PubMed=12189496; DOI=10.1007/s00439-002-0770-y;
RA Ben-Zeev B., Levy-Nissenbaum E., Lahat H., Anikster Y., Shinar Y.,
RA Brand N., Gross-Tzur V., MacGregor D., Sidi R., Kleta R., Frydman M.,
RA Pras E.;
RT "Megalencephalic leukoencephalopathy with subcortical cysts; a founder
RT effect in Israeli patients and a higher than expected carrier rate among
RT Libyan Jews.";
RL Hum. Genet. 111:214-218(2002).
RN [14]
RP VARIANTS MLC1 LEU-69; ILE-80; CYS-84; PRO-245 AND LYS-320.
RX PubMed=16652334; DOI=10.1002/humu.20332;
RA Ilja Boor P.K., de Groot K., Mejaski-Bosnjak V., Brenner C.,
RA van der Knaap M.S., Scheper G.C., Pronk J.C.;
RT "Megalencephalic leukoencephalopathy with subcortical cysts: an update and
RT extended mutation analysis of MLC1.";
RL Hum. Mutat. 27:505-512(2006).
CC -!- FUNCTION: Regulates the response of astrocytes to hypo-osmosis by
CC promoting calcium influx. {ECO:0000269|PubMed:22328087}.
CC -!- SUBUNIT: Interacts with ATP1B1. Part of a complex containing ATP1B1,
CC TRPV4, AQP4 and HEPACAM. {ECO:0000269|PubMed:22328087}.
CC -!- INTERACTION:
CC Q15049; Q9UBB4: ATXN10; NbExp=3; IntAct=EBI-8475277, EBI-702390;
CC Q15049; Q01658: DR1; NbExp=3; IntAct=EBI-8475277, EBI-750300;
CC Q15049; P14136: GFAP; NbExp=3; IntAct=EBI-8475277, EBI-744302;
CC Q15049; Q00403: GTF2B; NbExp=3; IntAct=EBI-8475277, EBI-389564;
CC Q15049; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-8475277, EBI-1054873;
CC Q15049; P04792: HSPB1; NbExp=3; IntAct=EBI-8475277, EBI-352682;
CC Q15049; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-8475277, EBI-1055254;
CC Q15049; O60333-2: KIF1B; NbExp=3; IntAct=EBI-8475277, EBI-10975473;
CC Q15049; P07196: NEFL; NbExp=3; IntAct=EBI-8475277, EBI-475646;
CC Q15049; P60891: PRPS1; NbExp=3; IntAct=EBI-8475277, EBI-749195;
CC Q15049; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-8475277, EBI-396669;
CC Q15049; Q13148: TARDBP; NbExp=6; IntAct=EBI-8475277, EBI-372899;
CC Q15049; O76024: WFS1; NbExp=3; IntAct=EBI-8475277, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:22328087}.
CC Cytoplasm, perinuclear region {ECO:0000269|PubMed:22328087}.
CC Endoplasmic reticulum {ECO:0000269|PubMed:22328087}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q15049-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q15049-2; Sequence=VSP_055494;
CC -!- TISSUE SPECIFICITY: Expressed in the brain, with highest levels found
CC in the amygdala, nucleus caudatus, thalamus and hippocampus.
CC {ECO:0000269|PubMed:11326298}.
CC -!- DISEASE: Leukoencephalopathy, megalencephalic, with subcortical cysts,
CC 1 (MLC1) [MIM:604004]: A syndrome of cerebral leukoencephalopathy and
CC megalencephaly characterized by ataxia, spasticity, seizures, delay in
CC motor development and mild intellectual disability. The brain appears
CC swollen on magnetic resonance imaging, with diffuse white-matter
CC abnormalities and the invariable presence of subcortical cysts in
CC frontal and temporal lobes. {ECO:0000269|PubMed:11254442,
CC ECO:0000269|PubMed:11935341, ECO:0000269|PubMed:12189496,
CC ECO:0000269|PubMed:16652334, ECO:0000269|PubMed:22328087}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA04947.3; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Mendelian genes megalencephalic leukoencephalopathy
CC with subcortical cysts 1 (MLC1); Note=Leiden Open Variation Database
CC (LOVD);
CC URL="https://databases.lovd.nl/shared/genes/MLC1";
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DR EMBL; AF319633; AAK60119.1; -; mRNA.
DR EMBL; D25217; BAA04947.3; ALT_INIT; mRNA.
DR EMBL; CR456460; CAG30346.1; -; mRNA.
DR EMBL; AK124264; BAG54023.1; -; mRNA.
DR EMBL; AK299841; BAH13145.1; -; mRNA.
DR EMBL; AL022327; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471138; EAW73490.1; -; Genomic_DNA.
DR EMBL; BC028425; AAH28425.1; -; mRNA.
DR CCDS; CCDS14083.1; -. [Q15049-1]
DR RefSeq; NP_055981.1; NM_015166.3. [Q15049-1]
DR RefSeq; NP_631941.1; NM_139202.2. [Q15049-1]
DR RefSeq; XP_016884160.1; XM_017028671.1.
DR AlphaFoldDB; Q15049; -.
DR BioGRID; 116816; 24.
DR CORUM; Q15049; -.
DR IntAct; Q15049; 18.
DR MINT; Q15049; -.
DR STRING; 9606.ENSP00000310375; -.
DR ChEMBL; CHEMBL4523299; -.
DR TCDB; 9.B.129.1.1; the membrane protein mlc1 (mlc1) family.
DR iPTMnet; Q15049; -.
DR PhosphoSitePlus; Q15049; -.
DR BioMuta; MLC1; -.
DR DMDM; 20141590; -.
DR EPD; Q15049; -.
DR MassIVE; Q15049; -.
DR PaxDb; Q15049; -.
DR PeptideAtlas; Q15049; -.
DR PRIDE; Q15049; -.
DR ProteomicsDB; 60401; -. [Q15049-1]
DR ProteomicsDB; 6749; -.
DR Antibodypedia; 297; 172 antibodies from 28 providers.
DR DNASU; 23209; -.
DR Ensembl; ENST00000311597.10; ENSP00000310375.6; ENSG00000100427.16. [Q15049-1]
DR Ensembl; ENST00000395876.6; ENSP00000379216.2; ENSG00000100427.16. [Q15049-1]
DR GeneID; 23209; -.
DR KEGG; hsa:23209; -.
DR MANE-Select; ENST00000311597.10; ENSP00000310375.6; NM_015166.4; NP_055981.1.
DR UCSC; uc003bjg.2; human. [Q15049-1]
DR CTD; 23209; -.
DR DisGeNET; 23209; -.
DR GeneCards; MLC1; -.
DR GeneReviews; MLC1; -.
DR HGNC; HGNC:17082; MLC1.
DR HPA; ENSG00000100427; Group enriched (brain, choroid plexus).
DR MalaCards; MLC1; -.
DR MIM; 604004; phenotype.
DR MIM; 605908; gene.
DR neXtProt; NX_Q15049; -.
DR OpenTargets; ENSG00000100427; -.
DR Orphanet; 2478; Megalencephalic leukoencephalopathy with subcortical cysts.
DR PharmGKB; PA38199; -.
DR VEuPathDB; HostDB:ENSG00000100427; -.
DR eggNOG; ENOG502QUF1; Eukaryota.
DR GeneTree; ENSGT00390000015442; -.
DR InParanoid; Q15049; -.
DR OMA; FSYKTWI; -.
DR PhylomeDB; Q15049; -.
DR TreeFam; TF333109; -.
DR PathwayCommons; Q15049; -.
DR SignaLink; Q15049; -.
DR BioGRID-ORCS; 23209; 12 hits in 1070 CRISPR screens.
DR ChiTaRS; MLC1; human.
DR GeneWiki; MLC1; -.
DR GenomeRNAi; 23209; -.
DR Pharos; Q15049; Tbio.
DR PRO; PR:Q15049; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q15049; protein.
DR Bgee; ENSG00000100427; Expressed in nucleus accumbens and 119 other tissues.
DR ExpressionAtlas; Q15049; baseline and differential.
DR Genevisible; Q15049; HS.
DR GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
DR GO; GO:0005901; C:caveola; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0031410; C:cytoplasmic vesicle; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005769; C:early endosome; ISS:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005768; C:endosome; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IDA:UniProtKB.
DR GO; GO:0005764; C:lysosome; ISS:UniProtKB.
DR GO; GO:0045121; C:membrane raft; ISS:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0055037; C:recycling endosome; ISS:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:UniProtKB.
DR GO; GO:0044877; F:protein-containing complex binding; IDA:UniProtKB.
DR GO; GO:0072584; P:caveolin-mediated endocytosis; ISS:UniProtKB.
DR GO; GO:0071397; P:cellular response to cholesterol; ISS:UniProtKB.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR GO; GO:0032388; P:positive regulation of intracellular transport; IDA:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:Ensembl.
DR GO; GO:0047484; P:regulation of response to osmotic stress; IMP:UniProtKB.
DR GO; GO:0016192; P:vesicle-mediated transport; ISS:UniProtKB.
DR InterPro; IPR033280; Membrane_MLC1.
DR PANTHER; PTHR17597; PTHR17597; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Direct protein sequencing;
KW Disease variant; Endoplasmic reticulum; Ion channel; Ion transport;
KW Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:12665801"
FT CHAIN 2..377
FT /note="Membrane protein MLC1"
FT /id="PRO_0000096496"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 82..100
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 144..164
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 199..219
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 230..250
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 257..277
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 304..324
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..20
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 177
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8VHK5"
FT MOD_RES 179
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8VHK5"
FT VAR_SEQ 60..89
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055494"
FT VARIANT 59
FT /note="G -> E (in MLC1; dbSNP:rs80358242)"
FT /evidence="ECO:0000269|PubMed:12189496"
FT /id="VAR_017438"
FT VARIANT 69
FT /note="S -> L (in MLC1; dbSNP:rs281875309)"
FT /evidence="ECO:0000269|PubMed:16652334"
FT /id="VAR_067762"
FT VARIANT 80
FT /note="M -> I (in MLC1; dbSNP:rs281875310)"
FT /evidence="ECO:0000269|PubMed:16652334"
FT /id="VAR_067763"
FT VARIANT 84
FT /note="R -> C (in MLC1; dbSNP:rs281875311)"
FT /evidence="ECO:0000269|PubMed:16652334"
FT /id="VAR_067764"
FT VARIANT 92
FT /note="P -> S (in MLC1; dbSNP:rs121908345)"
FT /evidence="ECO:0000269|PubMed:11935341"
FT /id="VAR_017439"
FT VARIANT 93
FT /note="S -> L (in MLC1; dbSNP:rs80358245)"
FT /evidence="ECO:0000269|PubMed:11254442"
FT /id="VAR_011699"
FT VARIANT 118
FT /note="T -> R (in MLC1; dbSNP:rs281875316)"
FT /evidence="ECO:0000269|PubMed:11254442"
FT /id="VAR_011700"
FT VARIANT 125
FT /note="C -> R (in MLC1; accumulates in the cytoplasmic
FT perinuclear region and endoplasmic reticulum; affects
FT interaction with ATP1B1; dbSNP:rs281875314)"
FT /evidence="ECO:0000269|PubMed:11935341,
FT ECO:0000269|PubMed:22328087"
FT /id="VAR_067765"
FT VARIANT 141
FT /note="N -> K (in MLC1; dbSNP:rs121908343)"
FT /evidence="ECO:0000269|PubMed:11935341"
FT /id="VAR_017440"
FT VARIANT 141
FT /note="N -> S (in MLC1; dbSNP:rs121908344)"
FT /evidence="ECO:0000269|PubMed:11935341"
FT /id="VAR_017441"
FT VARIANT 171
FT /note="C -> F (in dbSNP:rs6010260)"
FT /id="VAR_051186"
FT VARIANT 212
FT /note="G -> R (in MLC1; dbSNP:rs281875317)"
FT /evidence="ECO:0000269|PubMed:11254442"
FT /id="VAR_011701"
FT VARIANT 245
FT /note="A -> P (in MLC1; dbSNP:rs281875312)"
FT /evidence="ECO:0000269|PubMed:16652334"
FT /id="VAR_067766"
FT VARIANT 246
FT /note="S -> R (in MLC1; does not affect subcellular
FT location; dbSNP:rs281875315)"
FT /evidence="ECO:0000269|PubMed:11935341,
FT ECO:0000269|PubMed:22328087"
FT /id="VAR_067767"
FT VARIANT 280
FT /note="S -> L (in MLC1; accumulates in the cytoplasmic
FT perinuclear region and endoplasmic reticulum; affects the
FT interaction with ATP1B1, TRPV4, AQP4 and HEPACAM;
FT dbSNP:rs121908341)"
FT /evidence="ECO:0000269|PubMed:11254442,
FT ECO:0000269|PubMed:22328087"
FT /id="VAR_011702"
FT VARIANT 309
FT /note="L -> M (in a pedigree affected by schizophrenia;
FT dbSNP:rs80358240)"
FT /evidence="ECO:0000269|PubMed:11326298"
FT /id="VAR_012731"
FT VARIANT 320
FT /note="T -> K (in MLC1; dbSNP:rs281875313)"
FT /evidence="ECO:0000269|PubMed:16652334"
FT /id="VAR_067768"
FT VARIANT 344
FT /note="N -> S (in dbSNP:rs11568188)"
FT /id="VAR_051187"
FT CONFLICT 25
FT /note="P -> H (in Ref. 8; AAH28425)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 377 AA; 41141 MW; 9AF70B87D979F459 CRC64;
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
