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Entry version 170 (18 Sep 2019)
Sequence version 5 (23 Jan 2007)
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Protein

Membrane protein MLC1

Gene

MLC1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.129.1.1 the membrane protein mlc1 family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Membrane protein MLC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MLC1
Synonyms:KIAA0027, WKL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17082 MLC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605908 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15049

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
23209

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MLC1

MalaCards human disease database

More...
MalaCardsi
MLC1
MIMi604004 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100427

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2478 Megalencephalic leukoencephalopathy with subcortical cysts

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38199

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MLC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20141590

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000964962 – 377Membrane protein MLC1Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei177PhosphoserineBy similarity1
Modified residuei179PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15049

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q15049

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q15049

PeptideAtlas

More...
PeptideAtlasi
Q15049

PRoteomics IDEntifications database

More...
PRIDEi
Q15049

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60401 [Q15049-1]
6749

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15049

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q15049

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100427 Expressed in 127 organ(s), highest expression level in nucleus accumbens

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15049 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15049 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003040
HPA067533

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ATP1B1.

Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116816, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q15049

Protein interaction database and analysis system

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IntActi
Q15049, 5 interactors

Molecular INTeraction database

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MINTi
Q15049

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000310375

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi173 – 176Poly-Lys4

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IGRJ Eukaryota
ENOG410YAP9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015442

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000065767

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15049

KEGG Orthology (KO)

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KOi
K20070

Identification of Orthologs from Complete Genome Data

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OMAi
PPCFSHK

Database of Orthologous Groups

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OrthoDBi
856594at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15049

TreeFam database of animal gene trees

More...
TreeFami
TF333109

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033280 Membrane_MLC1

The PANTHER Classification System

More...
PANTHERi
PTHR17597 PTHR17597, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05549460 – 89Missing in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14083.1 [Q15049-1]

NCBI Reference Sequences

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RefSeqi
NP_055981.1, NM_015166.3 [Q15049-1]
NP_631941.1, NM_139202.2 [Q15049-1]
XP_016884160.1, XM_017028671.1 [Q15049-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311597; ENSP00000310375; ENSG00000100427 [Q15049-1]
ENST00000395876; ENSP00000379216; ENSG00000100427 [Q15049-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23209

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23209

UCSC genome browser

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UCSCi
uc003bjg.2 human [Q15049-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116816, 26 interactors
CORUMiQ15049
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
MassIVEiQ15049
PaxDbiQ15049
PeptideAtlasiQ15049
PRIDEiQ15049
ProteomicsDBi60401 [Q15049-1]
6749

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23209
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

Comparative Toxicogenomics Database

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CTDi
23209
DisGeNETi23209

GeneCards: human genes, protein and diseases

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GeneCardsi
MLC1
GeneReviewsiMLC1
HGNCiHGNC:17082 MLC1
HPAiHPA003040
HPA067533
MalaCardsiMLC1
MIMi604004 phenotype
605908 gene
neXtProtiNX_Q15049
OpenTargetsiENSG00000100427
Orphaneti2478 Megalencephalic leukoencephalopathy with subcortical cysts
PharmGKBiPA38199

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGRJ Eukaryota
ENOG410YAP9 LUCA
GeneTreeiENSGT00390000015442
HOGENOMiHOG000065767
InParanoidiQ15049
KOiK20070
OMAiPPCFSHK
OrthoDBi856594at2759
PhylomeDBiQ15049
TreeFamiTF333109

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MLC1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MLC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23209

Pharos

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Pharosi
Q15049

Protein Ontology

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PROi
PR:Q15049

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

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

Family and domain databases

InterProiView protein in InterPro
IPR033280 Membrane_MLC1
PANTHERiPTHR17597 PTHR17597, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMLC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15049
Secondary accession number(s): B3KW61
, B7Z659, Q5JZ83, Q8TAG4, Q96RP5, Q9UGY8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: September 18, 2019
This is version 170 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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