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Q15049

- MLC1_HUMAN

UniProt

Q15049 - MLC1_HUMAN

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Protein

Membrane protein MLC1

Gene

MLC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. protein complex binding Source: UniProtKB
  2. protein transporter activity Source: UniProtKB
  3. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ15049.
CleanExiHS_MLC1.
ExpressionAtlasiQ15049. baseline and differential.
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.
GeneTreeiENSGT00390000015442.
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

        10         20         30         40         50
MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK
60 70 80 90 100
TWVFSVLMGS CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV
110 120 130 140 150
SRRNANVIPN FQILFVSTFA VTTTCLIWFG CKLVLNPSAI NINFNLILLL
160 170 180 190 200
LLELLMAATV IIAARSSEED CKKKKGSMSD SANILDEVPF PARVLKSYSV
210 220 230 240 250
VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF PSAIASHVAA
260 270 280 290 300
ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS
310 320 330 340 350
YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL
360 370
AGEVARSPLK EFDKEKAWRA VVVQMAQ
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. [Q15049-1]
RefSeqiNP_055981.1. NM_015166.3. [Q15049-1]
NP_631941.1. NM_139202.2. [Q15049-1]
UniGeneiHs.517729.

Genome annotation databases

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

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. [Q15049-1 ]
RefSeqi NP_055981.1. NM_015166.3. [Q15049-1 ]
NP_631941.1. NM_139202.2. [Q15049-1 ]
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. [Q15049-1 ]

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.
GeneTreei ENSGT00390000015442.
HOGENOMi HOG000065767.
HOVERGENi HBG049239.
InParanoidi Q15049.
OMAi YSVIEVI.
OrthoDBi EOG7HTHH5.
PhylomeDBi Q15049.
TreeFami TF333109.

Miscellaneous databases

ChiTaRSi MLC1. human.
GeneWikii MLC1.
GenomeRNAii 23209.
NextBioi 35479888.
PROi Q15049.
SOURCEi Search...

Gene expression databases

Bgeei Q15049.
CleanExi HS_MLC1.
ExpressionAtlasi Q15049. baseline and differential.
Genevestigatori Q15049.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 131 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