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Q15049 (MLC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Membrane protein MLC1
Gene names
Name:MLC1
Synonyms:KIAA0027, WKL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length377 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. Ref.10

Subunit structure

Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. Ref.10

Subcellular location

Membrane; Multi-pass membrane protein Potential. Cell membrane. Cytoplasmperinuclear region. Endoplasmic reticulum Ref.10.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14

Sequence caution

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

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Cytoplasm
Endoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcaveolin-mediated endocytosis

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to cholesterol

Inferred from sequence or structural similarity. Source: UniProtKB

ion transport

Inferred from electronic annotation. Source: UniProtKB-KW

positive regulation of intracellular transport

Inferred from direct assay PubMed 19931615. Source: UniProtKB

protein oligomerization

Inferred from direct assay PubMed 15367490. Source: UniProtKB

regulation of response to osmotic stress

Inferred from mutant phenotype Ref.10. Source: UniProtKB

transport

Non-traceable author statement Ref.11. Source: UniProtKB

vesicle-mediated transport

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

basolateral plasma membrane

Inferred from direct assay PubMed 18165104. Source: UniProtKB

caveola

Inferred from sequence or structural similarity. Source: UniProtKB

cell-cell junction

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay PubMed 15892299. Source: UniProtKB

cytoplasmic vesicle

Inferred from direct assay PubMed 15892299PubMed 19931615. Source: UniProtKB

early endosome

Inferred from sequence or structural similarity. Source: UniProtKB

endoplasmic reticulum

Inferred from direct assay PubMed 15367490Ref.10. Source: UniProtKB

endosome

Inferred from direct assay PubMed 18165104. Source: UniProtKB

integral component of membrane

Inferred from direct assay PubMed 17628813. Source: UniProtKB

lysosome

Inferred from sequence or structural similarity. Source: UniProtKB

membrane raft

Inferred from sequence or structural similarity. Source: UniProtKB

perinuclear region of cytoplasm

Inferred from direct assay PubMed 19931615Ref.10. Source: UniProtKB

plasma membrane

Inferred from direct assay PubMed 15367490PubMed 15892299Ref.10. Source: UniProtKB

recycling endosome

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 17628813PubMed 19931615Ref.10. Source: UniProtKB

protein complex binding

Inferred from direct assay PubMed 17628813. Source: UniProtKB

protein transporter activity

Inferred from sequence or structural similarity. Source: UniProtKB

transporter activity

Non-traceable author statement Ref.11. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.9
Chain2 – 377376Membrane protein MLC1
PRO_0000096496

Regions

Transmembrane52 – 7221Helical; Potential
Transmembrane82 – 10019Helical; Potential
Transmembrane111 – 13121Helical; Potential
Transmembrane144 – 16421Helical; Potential
Transmembrane199 – 21921Helical; Potential
Transmembrane230 – 25021Helical; Potential
Transmembrane257 – 27721Helical; Potential
Transmembrane304 – 32421Helical; Potential
Compositional bias173 – 1764Poly-Lys

Natural variations

Natural variant591G → E in MLC1. Ref.13
Corresponds to variant rs80358242 [ dbSNP | Ensembl ].
VAR_017438
Natural variant691S → L in MLC1. Ref.14
Corresponds to variant rs281875309 [ dbSNP | Ensembl ].
VAR_067762
Natural variant801M → I in MLC1. Ref.14
Corresponds to variant rs281875310 [ dbSNP | Ensembl ].
VAR_067763
Natural variant841R → C in MLC1. Ref.14
Corresponds to variant rs281875311 [ dbSNP | Ensembl ].
VAR_067764
Natural variant921P → S in MLC1. Ref.12
Corresponds to variant rs121908345 [ dbSNP | Ensembl ].
VAR_017439
Natural variant931S → L in MLC1. Ref.11
Corresponds to variant rs80358245 [ dbSNP | Ensembl ].
VAR_011699
Natural variant1181T → R in MLC1. Ref.11
Corresponds to variant rs281875316 [ dbSNP | Ensembl ].
VAR_011700
Natural variant1251C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. Ref.10 Ref.12
Corresponds to variant rs281875314 [ dbSNP | Ensembl ].
VAR_067765
Natural variant1411N → K in MLC1. Ref.12
Corresponds to variant rs121908343 [ dbSNP | Ensembl ].
VAR_017440
Natural variant1411N → S in MLC1. Ref.12
Corresponds to variant rs121908344 [ dbSNP | Ensembl ].
VAR_017441
Natural variant1711C → F.
Corresponds to variant rs6010260 [ dbSNP | Ensembl ].
VAR_051186
Natural variant2121G → R in MLC1. Ref.11
Corresponds to variant rs281875317 [ dbSNP | Ensembl ].
VAR_011701
Natural variant2451A → P in MLC1. Ref.14
Corresponds to variant rs281875312 [ dbSNP | Ensembl ].
VAR_067766
Natural variant2461S → R in MLC1; does not affect subcellular location. Ref.10 Ref.12
Corresponds to variant rs281875315 [ dbSNP | Ensembl ].
VAR_067767
Natural variant2801S → L in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. Ref.10 Ref.11
Corresponds to variant rs121908341 [ dbSNP | Ensembl ].
VAR_011702
Natural variant3091L → M in a pedigree affected by schizophrenia. Ref.1
Corresponds to variant rs80358240 [ dbSNP | Ensembl ].
VAR_012731
Natural variant3201T → K in MLC1. Ref.14
Corresponds to variant rs281875313 [ dbSNP | Ensembl ].
VAR_067768
Natural variant3441N → S.
Corresponds to variant rs11568188 [ dbSNP | Ensembl ].
VAR_051187

Experimental info

Sequence conflict251P → H in AAH28425. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Q15049 [UniParc].

Last modified January 23, 2007. Version 5.
Checksum: 9AF70B87D979F459

FASTA37741,141
        10         20         30         40         50         60 
MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK TWVFSVLMGS 

        70         80         90        100        110        120 
CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV SRRNANVIPN FQILFVSTFA 

       130        140        150        160        170        180 
VTTTCLIWFG CKLVLNPSAI NINFNLILLL LLELLMAATV IIAARSSEED CKKKKGSMSD 

       190        200        210        220        230        240 
SANILDEVPF PARVLKSYSV VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF 

       250        260        270        280        290        300 
PSAIASHVAA ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS 

       310        320        330        340        350        360 
YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL AGEVARSPLK 

       370 
EFDKEKAWRA VVVQMAQ 

« Hide

References

« Hide 'large scale' references
[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], 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].
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]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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. expand/collapse author list , 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].
Tissue: 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF319633 mRNA. Translation: AAK60119.1.
D25217 mRNA. Translation: BAA04947.3. Different initiation.
CR456460 mRNA. Translation: CAG30346.1.
AL022327 Genomic DNA. Translation: CAI42687.1.
AK124264 mRNA. Translation: BAG54023.1.
CH471138 Genomic DNA. Translation: EAW73490.1.
BC028425 mRNA. Translation: AAH28425.1.
CCDSCCDS14083.1.
RefSeqNP_055981.1. NM_015166.3.
NP_631941.1. NM_139202.2.
UniGeneHs.517729.

3D structure databases

ProteinModelPortalQ15049.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116816. 16 interactions.
IntActQ15049. 2 interactions.
MINTMINT-8417695.
STRING9606.ENSP00000310375.

Protein family/group databases

TCDB2.A.1.76.1. the major facilitator superfamily (mfs).
9.B.129.1.1. the membrane protein mlc1 family.

PTM databases

PhosphoSiteQ15049.

Polymorphism databases

DMDM20141590.

Proteomic databases

PaxDbQ15049.
PRIDEQ15049.

Protocols and materials databases

DNASU23209.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311597; ENSP00000310375; ENSG00000100427.
ENST00000395876; ENSP00000379216; ENSG00000100427.
GeneID23209.
KEGGhsa:23209.
UCSCuc003bjg.1. human.

Organism-specific databases

CTD23209.
GeneCardsGC22M050497.
GeneReviewsMLC1.
HGNCHGNC:17082. MLC1.
HPAHPA003040.
MIM604004. phenotype.
605908. gene.
neXtProtNX_Q15049.
Orphanet2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBPA38199.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG48054.
HOGENOMHOG000065767.
HOVERGENHBG049239.
InParanoidQ15049.
OMAYSVIEVI.
OrthoDBEOG7HTHH5.
PhylomeDBQ15049.
TreeFamTF333109.

Gene expression databases

ArrayExpressQ15049.
BgeeQ15049.
CleanExHS_MLC1.
GenevestigatorQ15049.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSMLC1. human.
GeneWikiMLC1.
GenomeRNAi23209.
NextBio44747.
PROQ15049.
SOURCESearch...

Entry information

Entry nameMLC1_HUMAN
AccessionPrimary (citable) accession number: Q15049
Secondary accession number(s): B3KW61 expand/collapse secondary AC list , Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 128 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM