UniProtKB - Q15049 (MLC1_HUMAN)
Protein
Membrane protein MLC1
Gene
MLC1
Organism
Homo sapiens (Human)
Status
Functioni
Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.1 Publication
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- protein-containing complex binding Source: UniProtKB
GO - Biological processi
- caveolin-mediated endocytosis Source: UniProtKB
- cellular response to cholesterol Source: UniProtKB
- ion transport Source: UniProtKB-KW
- positive regulation of intracellular transport Source: UniProtKB
- protein transport Source: Ensembl
- regulation of response to osmotic stress Source: UniProtKB
- vesicle-mediated transport Source: UniProtKB
Keywordsi
Molecular function | Ion channel |
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q15049 |
Protein family/group databases
TCDBi | 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17082, MLC1 |
MIMi | 605908, gene |
neXtProti | NX_Q15049 |
VEuPathDBi | HostDB:ENSG00000100427.15 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
- perinuclear region 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Endosome
- early endosome Source: UniProtKB
- endosome Source: UniProtKB
- recycling endosome Source: UniProtKB
Lysosome
- lysosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: Ensembl
- basolateral plasma membrane Source: UniProtKB
- caveola Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- astrocyte end-foot Source: Ensembl
- cell-cell junction Source: Ensembl
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB
- integral component of membrane Source: UniProtKB
- membrane raft Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 52 – 72 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 82 – 100 | HelicalSequence analysisAdd BLAST | 19 | |
Transmembranei | 111 – 131 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 144 – 164 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 199 – 219 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 230 – 250 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 257 – 277 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 304 – 324 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017438 | 59 | G → E in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358242Ensembl. | 1 | |
Natural variantiVAR_067762 | 69 | S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875309Ensembl. | 1 | |
Natural variantiVAR_067763 | 80 | M → I in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875310Ensembl. | 1 | |
Natural variantiVAR_067764 | 84 | R → C in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875311Ensembl. | 1 | |
Natural variantiVAR_017439 | 92 | P → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908345Ensembl. | 1 | |
Natural variantiVAR_011699 | 93 | S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358245Ensembl. | 1 | |
Natural variantiVAR_011700 | 118 | T → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875316Ensembl. | 1 | |
Natural variantiVAR_067765 | 125 | C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant dbSNP:rs281875314Ensembl. | 1 | |
Natural variantiVAR_017440 | 141 | N → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908343Ensembl. | 1 | |
Natural variantiVAR_017441 | 141 | N → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908344Ensembl. | 1 | |
Natural variantiVAR_011701 | 212 | G → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875317Ensembl. | 1 | |
Natural variantiVAR_067766 | 245 | A → P in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875312Ensembl. | 1 | |
Natural variantiVAR_067767 | 246 | S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs281875315Ensembl. | 1 | |
Natural variantiVAR_011702 | 280 | S → L in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. 2 PublicationsCorresponds to variant dbSNP:rs121908341Ensembl. | 1 | |
Natural variantiVAR_067768 | 320 | T → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875313Ensembl. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 23209 |
GeneReviewsi | MLC1 |
MalaCardsi | MLC1 |
MIMi | 604004, phenotype |
OpenTargetsi | ENSG00000100427 |
Orphaneti | 2478, Megalencephalic leukoencephalopathy with subcortical cysts |
PharmGKBi | PA38199 |
Miscellaneous databases
Pharosi | Q15049, Tbio |
Genetic variation databases
BioMutai | MLC1 |
DMDMi | 20141590 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000096496 | 2 – 377 | Membrane protein MLC1Add BLAST | 376 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 177 | PhosphoserineBy similarity | 1 | |
Modified residuei | 179 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q15049 |
MassIVEi | Q15049 |
PaxDbi | Q15049 |
PeptideAtlasi | Q15049 |
PRIDEi | Q15049 |
ProteomicsDBi | 60401 [Q15049-1] 6749 |
PTM databases
iPTMneti | Q15049 |
PhosphoSitePlusi | Q15049 |
Expressioni
Tissue specificityi
Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.1 Publication
Gene expression databases
Bgeei | ENSG00000100427, Expressed in nucleus accumbens and 142 other tissues |
ExpressionAtlasi | Q15049, baseline and differential |
Genevisiblei | Q15049, HS |
Organism-specific databases
HPAi | ENSG00000100427, Tissue enhanced (bone marrow, brain) |
Interactioni
Subunit structurei
Interacts with ATP1B1.
Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.
1 PublicationBinary interactionsi
Hide detailsQ15049
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 116816, 26 interactors |
CORUMi | Q15049 |
IntActi | Q15049, 18 interactors |
MINTi | Q15049 |
STRINGi | 9606.ENSP00000310375 |
Miscellaneous databases
RNActi | Q15049, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 173 – 176 | Poly-Lys | 4 |
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QUF1, Eukaryota |
GeneTreei | ENSGT00390000015442 |
InParanoidi | Q15049 |
OMAi | MLLIQAC |
PhylomeDBi | Q15049 |
TreeFami | TF333109 |
Family and domain databases
InterProi | View protein in InterPro IPR033280, Membrane_MLC1 |
PANTHERi | PTHR17597, PTHR17597, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q15049-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA6PVC3 | A6PVC3_HUMAN | Membrane protein MLC1 | MLC1 | 223 | Annotation score: |
Sequence cautioni
The sequence BAA04947 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 25 | P → H in AAH28425 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017438 | 59 | G → E in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358242Ensembl. | 1 | |
Natural variantiVAR_067762 | 69 | S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875309Ensembl. | 1 | |
Natural variantiVAR_067763 | 80 | M → I in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875310Ensembl. | 1 | |
Natural variantiVAR_067764 | 84 | R → C in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875311Ensembl. | 1 | |
Natural variantiVAR_017439 | 92 | P → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908345Ensembl. | 1 | |
Natural variantiVAR_011699 | 93 | S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358245Ensembl. | 1 | |
Natural variantiVAR_011700 | 118 | T → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875316Ensembl. | 1 | |
Natural variantiVAR_067765 | 125 | C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant dbSNP:rs281875314Ensembl. | 1 | |
Natural variantiVAR_017440 | 141 | N → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908343Ensembl. | 1 | |
Natural variantiVAR_017441 | 141 | N → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908344Ensembl. | 1 | |
Natural variantiVAR_051186 | 171 | C → F. Corresponds to variant dbSNP:rs6010260EnsemblClinVar. | 1 | |
Natural variantiVAR_011701 | 212 | G → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875317Ensembl. | 1 | |
Natural variantiVAR_067766 | 245 | A → P in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875312Ensembl. | 1 | |
Natural variantiVAR_067767 | 246 | S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs281875315Ensembl. | 1 | |
Natural variantiVAR_011702 | 280 | S → L in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects the interaction with ATP1B1, TRPV4, AQP4 and HEPACAM. 2 PublicationsCorresponds to variant dbSNP:rs121908341Ensembl. | 1 | |
Natural variantiVAR_012731 | 309 | L → M in a pedigree affected by schizophrenia. 1 PublicationCorresponds to variant dbSNP:rs80358240Ensembl. | 1 | |
Natural variantiVAR_067768 | 320 | T → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875313Ensembl. | 1 | |
Natural variantiVAR_051187 | 344 | N → S. Corresponds to variant dbSNP:rs11568188EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055494 | 60 – 89 | Missing in isoform 2. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 No translation available. 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] XP_016884160.1, XM_017028671.1 |
Genome annotation databases
Ensembli | ENST00000311597; ENSP00000310375; ENSG00000100427 [Q15049-1] ENST00000395876; ENSP00000379216; ENSG00000100427 [Q15049-1] |
GeneIDi | 23209 |
KEGGi | hsa:23209 |
UCSCi | uc003bjg.2, human [Q15049-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Mendelian genes megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 No translation available. 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] XP_016884160.1, XM_017028671.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116816, 26 interactors |
CORUMi | Q15049 |
IntActi | Q15049, 18 interactors |
MINTi | Q15049 |
STRINGi | 9606.ENSP00000310375 |
Protein family/group databases
TCDBi | 9.B.129.1.1, the membrane protein mlc1 family |
PTM databases
iPTMneti | Q15049 |
PhosphoSitePlusi | Q15049 |
Genetic variation databases
BioMutai | MLC1 |
DMDMi | 20141590 |
Proteomic databases
EPDi | Q15049 |
MassIVEi | Q15049 |
PaxDbi | Q15049 |
PeptideAtlasi | Q15049 |
PRIDEi | Q15049 |
ProteomicsDBi | 60401 [Q15049-1] 6749 |
Protocols and materials databases
Antibodypediai | 297, 160 antibodies |
DNASUi | 23209 |
Genome annotation databases
Ensembli | ENST00000311597; ENSP00000310375; ENSG00000100427 [Q15049-1] ENST00000395876; ENSP00000379216; ENSG00000100427 [Q15049-1] |
GeneIDi | 23209 |
KEGGi | hsa:23209 |
UCSCi | uc003bjg.2, human [Q15049-1] |
Organism-specific databases
CTDi | 23209 |
DisGeNETi | 23209 |
GeneCardsi | MLC1 |
GeneReviewsi | MLC1 |
HGNCi | HGNC:17082, MLC1 |
HPAi | ENSG00000100427, Tissue enhanced (bone marrow, brain) |
MalaCardsi | MLC1 |
MIMi | 604004, phenotype 605908, gene |
neXtProti | NX_Q15049 |
OpenTargetsi | ENSG00000100427 |
Orphaneti | 2478, Megalencephalic leukoencephalopathy with subcortical cysts |
PharmGKBi | PA38199 |
VEuPathDBi | HostDB:ENSG00000100427.15 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QUF1, Eukaryota |
GeneTreei | ENSGT00390000015442 |
InParanoidi | Q15049 |
OMAi | MLLIQAC |
PhylomeDBi | Q15049 |
TreeFami | TF333109 |
Enzyme and pathway databases
PathwayCommonsi | Q15049 |
Miscellaneous databases
BioGRID-ORCSi | 23209, 4 hits in 874 CRISPR screens |
ChiTaRSi | MLC1, human |
GeneWikii | MLC1 |
GenomeRNAii | 23209 |
Pharosi | Q15049, Tbio |
PROi | PR:Q15049 |
RNActi | Q15049, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100427, Expressed in nucleus accumbens and 142 other tissues |
ExpressionAtlasi | Q15049, baseline and differential |
Genevisiblei | Q15049, HS |
Family and domain databases
InterProi | View protein in InterPro IPR033280, Membrane_MLC1 |
PANTHERi | PTHR17597, PTHR17597, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MLC1_HUMAN | |
Accessioni | Q15049Primary (citable) accession number: Q15049 Secondary accession number(s): B3KW61 Q9UGY8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 178 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot