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Q15049

- MLC1_HUMAN

UniProt

Q15049 - MLC1_HUMAN

Protein

Membrane protein MLC1

Gene

MLC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 5 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein complex binding Source: UniProtKB
    3. protein transporter activity Source: UniProtKB
    4. transporter activity Source: UniProtKB

    GO - Biological processi

    1. caveolin-mediated endocytosis Source: UniProtKB
    2. cellular response to cholesterol Source: UniProtKB
    3. ion transport Source: UniProtKB-KW
    4. positive regulation of intracellular transport Source: UniProtKB
    5. protein oligomerization Source: UniProtKB
    6. regulation of response to osmotic stress Source: UniProtKB
    7. transport Source: UniProtKB
    8. vesicle-mediated transport Source: UniProtKB

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Protein family/group databases

    TCDBi2.A.1.76.1. the major facilitator superfamily (mfs).
    9.B.129.1.1. the membrane protein mlc1 family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane protein MLC1
    Gene namesi
    Name:MLC1
    Synonyms:KIAA0027, WKL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:17082. MLC1.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Cell membrane 1 Publication. Cytoplasmperinuclear region 1 Publication. Endoplasmic reticulum 1 Publication

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basolateral plasma membrane Source: UniProtKB
    3. caveola Source: UniProtKB
    4. cell-cell junction Source: Ensembl
    5. cytoplasm Source: UniProtKB
    6. cytoplasmic vesicle Source: UniProtKB
    7. early endosome Source: UniProtKB
    8. endoplasmic reticulum Source: UniProtKB
    9. endosome Source: UniProtKB
    10. integral component of membrane Source: UniProtKB
    11. lysosome Source: UniProtKB
    12. membrane raft Source: UniProtKB
    13. perinuclear region of cytoplasm Source: UniProtKB
    14. plasma membrane Source: UniProtKB
    15. recycling endosome Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]: A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591G → E in MLC1. 1 Publication
    Corresponds to variant rs80358242 [ dbSNP | Ensembl ].
    VAR_017438
    Natural varianti69 – 691S → L in MLC1. 1 Publication
    Corresponds to variant rs281875309 [ dbSNP | Ensembl ].
    VAR_067762
    Natural varianti80 – 801M → I in MLC1. 1 Publication
    Corresponds to variant rs281875310 [ dbSNP | Ensembl ].
    VAR_067763
    Natural varianti84 – 841R → C in MLC1. 1 Publication
    Corresponds to variant rs281875311 [ dbSNP | Ensembl ].
    VAR_067764
    Natural varianti92 – 921P → S in MLC1. 1 Publication
    Corresponds to variant rs121908345 [ dbSNP | Ensembl ].
    VAR_017439
    Natural varianti93 – 931S → L in MLC1. 1 Publication
    Corresponds to variant rs80358245 [ dbSNP | Ensembl ].
    VAR_011699
    Natural varianti118 – 1181T → R in MLC1. 1 Publication
    Corresponds to variant rs281875316 [ dbSNP | Ensembl ].
    VAR_011700
    Natural varianti125 – 1251C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 1 Publication
    Corresponds to variant rs281875314 [ dbSNP | Ensembl ].
    VAR_067765
    Natural varianti141 – 1411N → K in MLC1. 1 Publication
    Corresponds to variant rs121908343 [ dbSNP | Ensembl ].
    VAR_017440
    Natural varianti141 – 1411N → S in MLC1. 1 Publication
    Corresponds to variant rs121908344 [ dbSNP | Ensembl ].
    VAR_017441
    Natural varianti212 – 2121G → R in MLC1. 1 Publication
    Corresponds to variant rs281875317 [ dbSNP | Ensembl ].
    VAR_011701
    Natural varianti245 – 2451A → P in MLC1. 1 Publication
    Corresponds to variant rs281875312 [ dbSNP | Ensembl ].
    VAR_067766
    Natural varianti246 – 2461S → R in MLC1; does not affect subcellular location. 1 Publication
    Corresponds to variant rs281875315 [ dbSNP | Ensembl ].
    VAR_067767
    Natural varianti280 – 2801S → L in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. 1 Publication
    Corresponds to variant rs121908341 [ dbSNP | Ensembl ].
    VAR_011702
    Natural varianti320 – 3201T → K in MLC1. 1 Publication
    Corresponds to variant rs281875313 [ dbSNP | Ensembl ].
    VAR_067768

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi604004. phenotype.
    Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
    PharmGKBiPA38199.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 377376Membrane protein MLC1PRO_0000096496Add
    BLAST

    Proteomic databases

    PaxDbiQ15049.
    PRIDEiQ15049.

    PTM databases

    PhosphoSiteiQ15049.

    Expressioni

    Tissue specificityi

    Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.1 Publication

    Gene expression databases

    ArrayExpressiQ15049.
    BgeeiQ15049.
    CleanExiHS_MLC1.
    GenevestigatoriQ15049.

    Organism-specific databases

    HPAiHPA003040.

    Interactioni

    Subunit structurei

    Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.1 Publication

    Protein-protein interaction databases

    BioGridi116816. 16 interactions.
    IntActiQ15049. 2 interactions.
    MINTiMINT-8417695.
    STRINGi9606.ENSP00000310375.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15049.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei52 – 7221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10019HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei144 – 16421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei199 – 21921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei230 – 25021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei257 – 27721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei304 – 32421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi173 – 1764Poly-Lys

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG48054.
    HOGENOMiHOG000065767.
    HOVERGENiHBG049239.
    InParanoidiQ15049.
    OMAiYSVIEVI.
    OrthoDBiEOG7HTHH5.
    PhylomeDBiQ15049.
    TreeFamiTF333109.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15049-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK    50
    TWVFSVLMGS CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV 100
    SRRNANVIPN FQILFVSTFA VTTTCLIWFG CKLVLNPSAI NINFNLILLL 150
    LLELLMAATV IIAARSSEED CKKKKGSMSD SANILDEVPF PARVLKSYSV 200
    VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF PSAIASHVAA 250
    ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS 300
    YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL 350
    AGEVARSPLK EFDKEKAWRA VVVQMAQ 377
    Length:377
    Mass (Da):41,141
    Last modified:January 23, 2007 - v5
    Checksum:i9AF70B87D979F459
    GO
    Isoform 2 (identifier: Q15049-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         60-89: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:347
    Mass (Da):37,974
    Checksum:i43E1FC124A1918F2
    GO

    Sequence cautioni

    The sequence BAA04947.3 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 251P → H in AAH28425. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591G → E in MLC1. 1 Publication
    Corresponds to variant rs80358242 [ dbSNP | Ensembl ].
    VAR_017438
    Natural varianti69 – 691S → L in MLC1. 1 Publication
    Corresponds to variant rs281875309 [ dbSNP | Ensembl ].
    VAR_067762
    Natural varianti80 – 801M → I in MLC1. 1 Publication
    Corresponds to variant rs281875310 [ dbSNP | Ensembl ].
    VAR_067763
    Natural varianti84 – 841R → C in MLC1. 1 Publication
    Corresponds to variant rs281875311 [ dbSNP | Ensembl ].
    VAR_067764
    Natural varianti92 – 921P → S in MLC1. 1 Publication
    Corresponds to variant rs121908345 [ dbSNP | Ensembl ].
    VAR_017439
    Natural varianti93 – 931S → L in MLC1. 1 Publication
    Corresponds to variant rs80358245 [ dbSNP | Ensembl ].
    VAR_011699
    Natural varianti118 – 1181T → R in MLC1. 1 Publication
    Corresponds to variant rs281875316 [ dbSNP | Ensembl ].
    VAR_011700
    Natural varianti125 – 1251C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 1 Publication
    Corresponds to variant rs281875314 [ dbSNP | Ensembl ].
    VAR_067765
    Natural varianti141 – 1411N → K in MLC1. 1 Publication
    Corresponds to variant rs121908343 [ dbSNP | Ensembl ].
    VAR_017440
    Natural varianti141 – 1411N → S in MLC1. 1 Publication
    Corresponds to variant rs121908344 [ dbSNP | Ensembl ].
    VAR_017441
    Natural varianti171 – 1711C → F.
    Corresponds to variant rs6010260 [ dbSNP | Ensembl ].
    VAR_051186
    Natural varianti212 – 2121G → R in MLC1. 1 Publication
    Corresponds to variant rs281875317 [ dbSNP | Ensembl ].
    VAR_011701
    Natural varianti245 – 2451A → P in MLC1. 1 Publication
    Corresponds to variant rs281875312 [ dbSNP | Ensembl ].
    VAR_067766
    Natural varianti246 – 2461S → R in MLC1; does not affect subcellular location. 1 Publication
    Corresponds to variant rs281875315 [ dbSNP | Ensembl ].
    VAR_067767
    Natural varianti280 – 2801S → L in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. 1 Publication
    Corresponds to variant rs121908341 [ dbSNP | Ensembl ].
    VAR_011702
    Natural varianti309 – 3091L → M in a pedigree affected by schizophrenia. 1 Publication
    Corresponds to variant rs80358240 [ dbSNP | Ensembl ].
    VAR_012731
    Natural varianti320 – 3201T → K in MLC1. 1 Publication
    Corresponds to variant rs281875313 [ dbSNP | Ensembl ].
    VAR_067768
    Natural varianti344 – 3441N → S.
    Corresponds to variant rs11568188 [ dbSNP | Ensembl ].
    VAR_051187

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei60 – 8930Missing in isoform 2. 1 PublicationVSP_055494Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF319633 mRNA. Translation: AAK60119.1.
    D25217 mRNA. Translation: BAA04947.3. Different initiation.
    CR456460 mRNA. Translation: CAG30346.1.
    AK124264 mRNA. Translation: BAG54023.1.
    AK299841 mRNA. Translation: BAH13145.1.
    AL022327 Genomic DNA. Translation: CAI42687.1.
    CH471138 Genomic DNA. Translation: EAW73490.1.
    BC028425 mRNA. Translation: AAH28425.1.
    CCDSiCCDS14083.1.
    RefSeqiNP_055981.1. NM_015166.3.
    NP_631941.1. NM_139202.2.
    UniGeneiHs.517729.

    Genome annotation databases

    EnsembliENST00000311597; ENSP00000310375; ENSG00000100427. [Q15049-1]
    ENST00000395876; ENSP00000379216; ENSG00000100427. [Q15049-1]
    GeneIDi23209.
    KEGGihsa:23209.
    UCSCiuc003bjg.1. human.

    Polymorphism databases

    DMDMi20141590.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mendelian genes megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF319633 mRNA. Translation: AAK60119.1 .
    D25217 mRNA. Translation: BAA04947.3 . Different initiation.
    CR456460 mRNA. Translation: CAG30346.1 .
    AK124264 mRNA. Translation: BAG54023.1 .
    AK299841 mRNA. Translation: BAH13145.1 .
    AL022327 Genomic DNA. Translation: CAI42687.1 .
    CH471138 Genomic DNA. Translation: EAW73490.1 .
    BC028425 mRNA. Translation: AAH28425.1 .
    CCDSi CCDS14083.1.
    RefSeqi NP_055981.1. NM_015166.3.
    NP_631941.1. NM_139202.2.
    UniGenei Hs.517729.

    3D structure databases

    ProteinModelPortali Q15049.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116816. 16 interactions.
    IntActi Q15049. 2 interactions.
    MINTi MINT-8417695.
    STRINGi 9606.ENSP00000310375.

    Protein family/group databases

    TCDBi 2.A.1.76.1. the major facilitator superfamily (mfs).
    9.B.129.1.1. the membrane protein mlc1 family.

    PTM databases

    PhosphoSitei Q15049.

    Polymorphism databases

    DMDMi 20141590.

    Proteomic databases

    PaxDbi Q15049.
    PRIDEi Q15049.

    Protocols and materials databases

    DNASUi 23209.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311597 ; ENSP00000310375 ; ENSG00000100427 . [Q15049-1 ]
    ENST00000395876 ; ENSP00000379216 ; ENSG00000100427 . [Q15049-1 ]
    GeneIDi 23209.
    KEGGi hsa:23209.
    UCSCi uc003bjg.1. human.

    Organism-specific databases

    CTDi 23209.
    GeneCardsi GC22M050497.
    GeneReviewsi MLC1.
    HGNCi HGNC:17082. MLC1.
    HPAi HPA003040.
    MIMi 604004. phenotype.
    605908. gene.
    neXtProti NX_Q15049.
    Orphaneti 2478. Megalencephalic leukoencephalopathy with subcortical cysts.
    PharmGKBi PA38199.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG48054.
    HOGENOMi HOG000065767.
    HOVERGENi HBG049239.
    InParanoidi Q15049.
    OMAi YSVIEVI.
    OrthoDBi EOG7HTHH5.
    PhylomeDBi Q15049.
    TreeFami TF333109.

    Miscellaneous databases

    ChiTaRSi MLC1. human.
    GeneWikii MLC1.
    GenomeRNAii 23209.
    NextBioi 44747.
    PROi Q15049.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15049.
    Bgeei Q15049.
    CleanExi HS_MLC1.
    Genevestigatori Q15049.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree."
      Meyer J., Huberth A., Ortega G., Syagailo Y.V., Jatzke S., Moessner R., Strom T.M., Ulzheimer-Teuber I., Stoeber G., Schmitt A., Lesch K.P.
      Mol. Psychiatry 6:302-306(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT MET-309.
      Tissue: Hippocampus.
    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., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
      DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Bone marrow.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Kidney.
    6. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    9. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
      Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-14.
      Tissue: Platelet.
    10. "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., Brignone M.S., Molinari P., Visentin S., De Nuccio C., Macchia G., Aiello C., Bertini E., Aloisi F., Petrucci T.C., Ambrosini E.
      Hum. Mol. Genet. 21:2166-2180(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH ATP1B1, CHARACTERIZATION OF VARIANTS MLC1 ARG-125; ARG-246 AND LEU-280.
    11. "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts."
      Leegwater P.A.J., Yuan B.Q., van der Steen J., Mulders J., Koenst A.A.M., Ilja Boor P.K., Mejaski-Bosnjak V., van der Maarel S.M., Frants R.R., Oudejans C.B.M., Schutgens R.B.H., Pronk J.C., van der Knapp M.S.
      Am. J. Hum. Genet. 68:831-838(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLC1 LEU-93; ARG-118; ARG-212 AND LEU-280.
    12. "Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts."
      Leegwater P.A.J., Boor P.K.I., Yuan B.Q., van der Steen J., Visser A., Konst A.A.M., Oudejans C.B.M., Schutgens R.B.H., Pronk J.C., van der Knaap M.S.
      Hum. Genet. 110:279-283(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLC1 SER-92; ARG-125; LYS-141; SER-141 AND ARG-246.
    13. "Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews."
      Ben-Zeev B., Levy-Nissenbaum E., Lahat H., Anikster Y., Shinar Y., Brand N., Gross-Tzur V., MacGregor D., Sidi R., Kleta R., Frydman M., Pras E.
      Hum. Genet. 111:214-218(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLC1 GLU-59.
    14. "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1."
      Ilja Boor P.K., de Groot K., Mejaski-Bosnjak V., Brenner C., van der Knaap M.S., Scheper G.C., Pronk J.C.
      Hum. Mutat. 27:505-512(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MLC1 LEU-69; ILE-80; CYS-84; PRO-245 AND LYS-320.

    Entry informationi

    Entry nameiMLC1_HUMAN
    AccessioniPrimary (citable) accession number: Q15049
    Secondary accession number(s): B3KW61
    , B7Z659, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 130 of the entry and version 5 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3