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UniProtKB - Q15049 (MLC1_HUMAN)

Protein

Membrane protein MLC1

Gene

MLC1

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

Functioni

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

GO - Molecular functioni

  • protein-containing complex binding Source: UniProtKB
  • protein transporter activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100427.15
HGNCiHGNC:17082 MLC1
MIMi605908 gene
neXtProtiNX_Q15049

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)5 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 dbSNP:rs80358242EnsemblClinVar.1
Natural variantiVAR_06776269S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875309EnsemblClinVar.1
Natural variantiVAR_06776380M → I in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875310EnsemblClinVar.1
Natural variantiVAR_06776484R → C in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875311EnsemblClinVar.1
Natural variantiVAR_01743992P → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908345EnsemblClinVar.1
Natural variantiVAR_01169993S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358245EnsemblClinVar.1
Natural variantiVAR_011700118T → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875316EnsemblClinVar.1
Natural variantiVAR_067765125C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant dbSNP:rs281875314EnsemblClinVar.1
Natural variantiVAR_017440141N → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908343EnsemblClinVar.1
Natural variantiVAR_017441141N → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908344EnsemblClinVar.1
Natural variantiVAR_011701212G → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875317EnsemblClinVar.1
Natural variantiVAR_067766245A → P in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875312EnsemblClinVar.1
Natural variantiVAR_067767246S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs281875315EnsemblClinVar.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 dbSNP:rs121908341EnsemblClinVar.1
Natural variantiVAR_067768320T → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875313EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23209
GeneReviewsiMLC1
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
ProteomicsDBi60401

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 Expressed in 127 organ(s), highest expression level in nucleus accumbens
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

Protein-protein interaction databases

BioGridi116816, 25 interactors
IntActiQ15049, 5 interactors
MINTiQ15049
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
OMAiPPCFSHK
OrthoDBiEOG091G0AUD
PhylomeDBiQ15049
TreeFamiTF333109

Family and domain databases

InterProiView protein in InterPro
IPR033280 Membrane_MLC1
PANTHERiPTHR17597 PTHR17597, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD492528 PD492528, 1 hit

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

This 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 '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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6PVC3A6PVC3_HUMAN
Membrane protein MLC1
MLC1
223Annotation score:

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 dbSNP:rs80358242EnsemblClinVar.1
Natural variantiVAR_06776269S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875309EnsemblClinVar.1
Natural variantiVAR_06776380M → I in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875310EnsemblClinVar.1
Natural variantiVAR_06776484R → C in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875311EnsemblClinVar.1
Natural variantiVAR_01743992P → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908345EnsemblClinVar.1
Natural variantiVAR_01169993S → L in MLC1. 1 PublicationCorresponds to variant dbSNP:rs80358245EnsemblClinVar.1
Natural variantiVAR_011700118T → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875316EnsemblClinVar.1
Natural variantiVAR_067765125C → R in MLC1; accumulates in the cytoplasmic perinuclear region and endoplasmic reticulum; affects interaction with ATP1B1. 2 PublicationsCorresponds to variant dbSNP:rs281875314EnsemblClinVar.1
Natural variantiVAR_017440141N → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908343EnsemblClinVar.1
Natural variantiVAR_017441141N → S in MLC1. 1 PublicationCorresponds to variant dbSNP:rs121908344EnsemblClinVar.1
Natural variantiVAR_051186171C → F. Corresponds to variant dbSNP:rs6010260EnsemblClinVar.1
Natural variantiVAR_011701212G → R in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875317EnsemblClinVar.1
Natural variantiVAR_067766245A → P in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875312EnsemblClinVar.1
Natural variantiVAR_067767246S → R in MLC1; does not affect subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs281875315EnsemblClinVar.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 dbSNP:rs121908341EnsemblClinVar.1
Natural variantiVAR_012731309L → M in a pedigree affected by schizophrenia. 1 PublicationCorresponds to variant dbSNP:rs80358240EnsemblClinVar.1
Natural variantiVAR_067768320T → K in MLC1. 1 PublicationCorresponds to variant dbSNP:rs281875313EnsemblClinVar.1
Natural variantiVAR_051187344N → S. Corresponds to variant dbSNP:rs11568188EnsemblClinVar.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 No translation available.
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

Similar 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
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, 25 interactors
IntActiQ15049, 5 interactors
MINTiQ15049
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
ProteomicsDBi60401

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
EuPathDBiHostDB:ENSG00000100427.15
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
OMAiPPCFSHK
OrthoDBiEOG091G0AUD
PhylomeDBiQ15049
TreeFamiTF333109

Miscellaneous databases

ChiTaRSiMLC1 human
GeneWikiiMLC1
GenomeRNAii23209
PROiPR:Q15049
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100427 Expressed in 127 organ(s), highest expression level in nucleus accumbens
CleanExiHS_MLC1
ExpressionAtlasiQ15049 baseline and differential
GenevisibleiQ15049 HS

Family and domain databases

InterProiView protein in InterPro
IPR033280 Membrane_MLC1
PANTHERiPTHR17597 PTHR17597, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD492528 PD492528, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMLC1_HUMAN
AccessioniPrimary (citable) accession number: Q15049
Secondary accession number(s): B3KW61
, B7Z659, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 162 of the entry and version 5 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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