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Protein

Membrane protein MLC1

Gene

MLC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • protein complex binding Source: UniProtKB
  • protein transporter activity Source: UniProtKB
  • transporter activity 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 oligomerization Source: UniProtKB
  • regulation of response to osmotic stress Source: UniProtKB
  • transport Source: UniProtKB
  • vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100427-MONOMER.

Protein family/group databases

TCDBi9.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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:17082. MLC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei52 – 72HelicalSequence analysisAdd BLAST21
Transmembranei82 – 100HelicalSequence analysisAdd BLAST19
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Transmembranei304 – 324HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • basolateral plasma membrane Source: UniProtKB
  • caveola Source: UniProtKB
  • cell-cell junction Source: Ensembl
  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle Source: UniProtKB
  • early endosome Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • lysosome Source: UniProtKB
  • membrane raft Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • 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)4 Publications
The disease is caused by mutations 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.
See also OMIM:604004
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01743859G → E in MLC1. 1 PublicationCorresponds to variant rs80358242dbSNPEnsembl.1
Natural variantiVAR_06776269S → L in MLC1. 1 PublicationCorresponds to variant rs281875309dbSNPEnsembl.1
Natural variantiVAR_06776380M → I in MLC1. 1 PublicationCorresponds to variant rs281875310dbSNPEnsembl.1
Natural variantiVAR_06776484R → C in MLC1. 1 PublicationCorresponds to variant rs281875311dbSNPEnsembl.1
Natural variantiVAR_01743992P → S in MLC1. 1 PublicationCorresponds to variant rs121908345dbSNPEnsembl.1
Natural variantiVAR_01169993S → L in MLC1. 1 PublicationCorresponds to variant rs80358245dbSNPEnsembl.1
Natural variantiVAR_011700118T → R in MLC1. 1 PublicationCorresponds to variant rs281875316dbSNPEnsembl.1
Natural variantiVAR_067765125C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant rs281875314dbSNPEnsembl.1
Natural variantiVAR_017440141N → K in MLC1. 1 PublicationCorresponds to variant rs121908343dbSNPEnsembl.1
Natural variantiVAR_017441141N → S in MLC1. 1 PublicationCorresponds to variant rs121908344dbSNPEnsembl.1
Natural variantiVAR_011701212G → R in MLC1. 1 PublicationCorresponds to variant rs281875317dbSNPEnsembl.1
Natural variantiVAR_067766245A → P in MLC1. 1 PublicationCorresponds to variant rs281875312dbSNPEnsembl.1
Natural variantiVAR_067767246S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant rs281875315dbSNPEnsembl.1
Natural variantiVAR_011702280S → 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 rs121908341dbSNPEnsembl.1
Natural variantiVAR_067768320T → K in MLC1. 1 PublicationCorresponds to variant rs281875313dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23209.
MalaCardsiMLC1.
MIMi604004. phenotype.
OpenTargetsiENSG00000100427.
Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBiPA38199.

Polymorphism and mutation databases

BioMutaiMLC1.
DMDMi20141590.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000964962 – 377Membrane protein MLC1Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei177PhosphoserineBy similarity1
Modified residuei179PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15049.
PaxDbiQ15049.
PeptideAtlasiQ15049.
PRIDEiQ15049.

PTM databases

iPTMnetiQ15049.
PhosphoSitePlusiQ15049.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000100427.
CleanExiHS_MLC1.
ExpressionAtlasiQ15049. baseline and differential.
GenevisibleiQ15049. HS.

Organism-specific databases

HPAiHPA003040.
HPA067533.

Interactioni

Subunit structurei

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

GO - Molecular functioni

  • protein complex binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116816. 15 interactors.
IntActiQ15049. 5 interactors.
MINTiMINT-8417695.
STRINGi9606.ENSP00000310375.

Structurei

3D structure databases

ProteinModelPortaliQ15049.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi173 – 176Poly-Lys4

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGRJ. Eukaryota.
ENOG410YAP9. LUCA.
GeneTreeiENSGT00390000015442.
HOGENOMiHOG000065767.
HOVERGENiHBG049239.
InParanoidiQ15049.
KOiK20070.
OMAiFKDYPPA.
OrthoDBiEOG091G0AUD.
PhylomeDBiQ15049.
TreeFamiTF333109.

Family and domain databases

InterProiIPR033280. Membrane_MLC1.
[Graphical view]
PANTHERiPTHR17597. PTHR17597. 1 hit.
ProDomiPD492528. PD492528. 1 hit.
[Graphical view] [Entries sharing at least one domain]

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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25P → H in AAH28425 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01743859G → E in MLC1. 1 PublicationCorresponds to variant rs80358242dbSNPEnsembl.1
Natural variantiVAR_06776269S → L in MLC1. 1 PublicationCorresponds to variant rs281875309dbSNPEnsembl.1
Natural variantiVAR_06776380M → I in MLC1. 1 PublicationCorresponds to variant rs281875310dbSNPEnsembl.1
Natural variantiVAR_06776484R → C in MLC1. 1 PublicationCorresponds to variant rs281875311dbSNPEnsembl.1
Natural variantiVAR_01743992P → S in MLC1. 1 PublicationCorresponds to variant rs121908345dbSNPEnsembl.1
Natural variantiVAR_01169993S → L in MLC1. 1 PublicationCorresponds to variant rs80358245dbSNPEnsembl.1
Natural variantiVAR_011700118T → R in MLC1. 1 PublicationCorresponds to variant rs281875316dbSNPEnsembl.1
Natural variantiVAR_067765125C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant rs281875314dbSNPEnsembl.1
Natural variantiVAR_017440141N → K in MLC1. 1 PublicationCorresponds to variant rs121908343dbSNPEnsembl.1
Natural variantiVAR_017441141N → S in MLC1. 1 PublicationCorresponds to variant rs121908344dbSNPEnsembl.1
Natural variantiVAR_051186171C → F.Corresponds to variant rs6010260dbSNPEnsembl.1
Natural variantiVAR_011701212G → R in MLC1. 1 PublicationCorresponds to variant rs281875317dbSNPEnsembl.1
Natural variantiVAR_067766245A → P in MLC1. 1 PublicationCorresponds to variant rs281875312dbSNPEnsembl.1
Natural variantiVAR_067767246S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant rs281875315dbSNPEnsembl.1
Natural variantiVAR_011702280S → 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 rs121908341dbSNPEnsembl.1
Natural variantiVAR_012731309L → M in a pedigree affected by schizophrenia. 1 PublicationCorresponds to variant rs80358240dbSNPEnsembl.1
Natural variantiVAR_067768320T → K in MLC1. 1 PublicationCorresponds to variant rs281875313dbSNPEnsembl.1
Natural variantiVAR_051187344N → S.Corresponds to variant rs11568188dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05549460 – 89Missing in isoform 2. 1 PublicationAdd BLAST30

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. 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]
XP_016884160.1. XM_017028671.1. [Q15049-1]
UniGeneiHs.517729.

Genome annotation databases

EnsembliENST00000311597; ENSP00000310375; ENSG00000100427. [Q15049-1]
ENST00000395876; ENSP00000379216; ENSG00000100427. [Q15049-1]
GeneIDi23209.
KEGGihsa:23209.
UCSCiuc003bjg.2. human. [Q15049-1]

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:
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. 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]
XP_016884160.1. XM_017028671.1. [Q15049-1]
UniGeneiHs.517729.

3D structure databases

ProteinModelPortaliQ15049.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116816. 15 interactors.
IntActiQ15049. 5 interactors.
MINTiMINT-8417695.
STRINGi9606.ENSP00000310375.

Protein family/group databases

TCDBi9.B.129.1.1. the membrane protein mlc1 family.

PTM databases

iPTMnetiQ15049.
PhosphoSitePlusiQ15049.

Polymorphism and mutation databases

BioMutaiMLC1.
DMDMi20141590.

Proteomic databases

EPDiQ15049.
PaxDbiQ15049.
PeptideAtlasiQ15049.
PRIDEiQ15049.

Protocols and materials databases

DNASUi23209.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311597; ENSP00000310375; ENSG00000100427. [Q15049-1]
ENST00000395876; ENSP00000379216; ENSG00000100427. [Q15049-1]
GeneIDi23209.
KEGGihsa:23209.
UCSCiuc003bjg.2. human. [Q15049-1]

Organism-specific databases

CTDi23209.
DisGeNETi23209.
GeneCardsiMLC1.
GeneReviewsiMLC1.
HGNCiHGNC:17082. MLC1.
HPAiHPA003040.
HPA067533.
MalaCardsiMLC1.
MIMi604004. phenotype.
605908. gene.
neXtProtiNX_Q15049.
OpenTargetsiENSG00000100427.
Orphaneti2478. Megalencephalic leukoencephalopathy with subcortical cysts.
PharmGKBiPA38199.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGRJ. Eukaryota.
ENOG410YAP9. LUCA.
GeneTreeiENSGT00390000015442.
HOGENOMiHOG000065767.
HOVERGENiHBG049239.
InParanoidiQ15049.
KOiK20070.
OMAiFKDYPPA.
OrthoDBiEOG091G0AUD.
PhylomeDBiQ15049.
TreeFamiTF333109.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100427-MONOMER.

Miscellaneous databases

ChiTaRSiMLC1. human.
GeneWikiiMLC1.
GenomeRNAii23209.
PROiQ15049.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100427.
CleanExiHS_MLC1.
ExpressionAtlasiQ15049. baseline and differential.
GenevisibleiQ15049. HS.

Family and domain databases

InterProiIPR033280. Membrane_MLC1.
[Graphical view]
PANTHERiPTHR17597. PTHR17597. 1 hit.
ProDomiPD492528. PD492528. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

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: November 2, 2016
This is version 150 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.