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Protein

Chloride channel protein 1

Gene

CLCN1

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

Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction.9 Publications

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei189ChlorideBy similarity1
Binding sitei484Chloride; via amide nitrogenBy similarity1
Binding sitei578ChlorideBy similarity1

<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

  • protein homodimerization activity Source: UniProtKB
  • voltage-gated chloride channel activity Source: UniProtKB

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 functionChloride channel, Ion channel, Voltage-gated channel
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

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TCDBi
2.A.49.2.1 the chloride carrier/channel (clc) 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:
Chloride channel protein 1
Short name:
ClC-1
Alternative name(s):
Chloride channel protein, skeletal muscle
<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:CLCN1
Synonyms:CLC1
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000188037.10

Human Gene Nomenclature Database

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HGNCi
HGNC:2019 CLCN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
118425 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P35523

<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; 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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 118CytoplasmicCuratedAdd BLAST118
<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>Transmembranei119 – 150Helical1 PublicationAdd BLAST32
Topological domaini151 – 158ExtracellularCurated8
Transmembranei159 – 179Helical1 PublicationAdd BLAST21
Topological domaini180 – 183CytoplasmicCurated4
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei184 – 195Helical1 PublicationAdd BLAST12
Topological domaini196 – 208CytoplasmicCuratedAdd BLAST13
Transmembranei209 – 228Helical1 PublicationAdd BLAST20
Transmembranei229 – 246Helical1 PublicationAdd BLAST18
Topological domaini247 – 268CytoplasmicCuratedAdd BLAST22
Intramembranei269 – 290Helical1 PublicationAdd BLAST22
Topological domaini291 – 301CytoplasmicCuratedAdd BLAST11
Transmembranei302 – 321Helical1 PublicationAdd BLAST20
Topological domaini322 – 347ExtracellularCuratedAdd BLAST26
Transmembranei348 – 376Helical1 PublicationAdd BLAST29
Topological domaini377 – 390CytoplasmicCuratedAdd BLAST14
Transmembranei391 – 408Helical1 PublicationAdd BLAST18
Topological domaini409 – 414ExtracellularCurated6
Intramembranei415 – 426Helical1 PublicationAdd BLAST12
Topological domaini427 – 457ExtracellularCuratedAdd BLAST31
Transmembranei458 – 478Helical1 PublicationAdd BLAST21
Transmembranei479 – 498Helical1 PublicationAdd BLAST20
Topological domaini499 – 521ExtracellularCuratedAdd BLAST23
Intramembranei522 – 554Helical1 PublicationAdd BLAST33
Topological domaini555 – 557ExtracellularCurated3
Transmembranei558 – 578Helical1 PublicationAdd BLAST21
Topological domaini579 – 988CytoplasmicCuratedAdd BLAST410

Keywords - Cellular componenti

Cell membrane, 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

Myotonia congenita, autosomal dominant (MCAD)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).
See also OMIM:160800
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_075591128M → V in MCAD. 1 PublicationCorresponds to variant dbSNP:rs80356699EnsemblClinVar.1
Natural variantiVAR_075597193E → K in MCAD. 1 PublicationCorresponds to variant dbSNP:rs80356686EnsemblClinVar.1
Natural variantiVAR_075599198L → P in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication1
Natural variantiVAR_001594286V → A in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs80356689EnsemblClinVar.1
Natural variantiVAR_001595290I → M in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs80356690EnsemblClinVar.1
Natural variantiVAR_001598307F → S in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs80356701EnsemblClinVar.1
Natural variantiVAR_001600317R → Q in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel. 2 PublicationsCorresponds to variant dbSNP:rs80356702EnsemblClinVar.1
Natural variantiVAR_077244480P → H in MCAD; decreased protein abundance. 1 Publication1
Natural variantiVAR_001607480P → L in MCAD; loss of chloride transport; changed chloride channel activity; changed gating of the channel; dominant effect. 3 PublicationsCorresponds to variant dbSNP:rs80356694EnsemblClinVar.1
Natural variantiVAR_075605484F → L in MCAD; reduced chloride transport; changed calcium channel activity; changed channel gating; no dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs1312002847Ensembl.1
Natural variantiVAR_079520950E → K in MCAD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201506176Ensembl.1
Myotonia congenita, autosomal recessive (MCAR)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).
See also OMIM:255700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07558843Q → R in MCAR; decreased chloride transport; decreased localization to the plasma membrane; dominant negative effect on chloride transport and localization to the plasma membrane; no significant effect on chloride channel activity; no effect on homodimerization. 1 Publication1
Natural variantiVAR_07558970S → L in MCAR; unknown pathological significance; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs769312894Ensembl.1
Natural variantiVAR_07559082T → A in MCAR; unknown pathological significance; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs772100356Ensembl.1
Natural variantiVAR_001582105R → C in MCAR; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs201509501Ensembl.1
Natural variantiVAR_001584136D → G in MCAR. 1 Publication1
Natural variantiVAR_075592137Y → D in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs748639603EnsemblClinVar.1
Natural variantiVAR_001585150Y → C in MCAR. 1 Publication1
Natural variantiVAR_075594160Q → H in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs771532474Ensembl.1
Natural variantiVAR_075595164W → R in MCAR; altered chloride channel activity. 1 Publication1
Natural variantiVAR_001587165V → G in MCAR. 1
Natural variantiVAR_001588167F → L in MCAR; no effect on chloride transport. 3 PublicationsCorresponds to variant dbSNP:rs149729531EnsemblClinVar.1
Natural variantiVAR_075596190G → S in MCAR; loss of chloride channel activity. 3 PublicationsCorresponds to variant dbSNP:rs797045032EnsemblClinVar.1
Natural variantiVAR_075598197I → R in MCAR; changed chloride channel activity. 1 Publication1
Natural variantiVAR_001591236V → L in MCAR; loss of chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication1
Natural variantiVAR_001592261Y → C in MCAR. 1 PublicationCorresponds to variant dbSNP:rs200621976Ensembl.1
Natural variantiVAR_075600270G → V in MCAR; decreased chloride channel activity. 1 Publication1
Natural variantiVAR_075601277C → R in MCAR; reduced chloride transport; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs757109632Ensembl.1
Natural variantiVAR_075602277C → Y in MCAR; reduced chloride transport; changed calcium channel activity; changed gating of the channel; no effect on protein abundance. 1 Publication1
Natural variantiVAR_001593285G → E in MCAR; loss of chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs150885084EnsemblClinVar.1
Natural variantiVAR_001596291E → K in MCAR; loss of calcium channel activity; no dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs121912805EnsemblClinVar.1
Natural variantiVAR_001601327V → I in MCAR. Corresponds to variant dbSNP:rs774396430EnsemblClinVar.1
Natural variantiVAR_001602329I → T in MCAR. 1
Natural variantiVAR_075603412Q → P in MCAR; loss of chloride transport; decreased localization to the plasma membrane; loss of homodimerization; might be degraded. 1 PublicationCorresponds to variant dbSNP:rs1279658001Ensembl.1
Natural variantiVAR_001604413F → C in MCAR. 1 PublicationCorresponds to variant dbSNP:rs121912799EnsemblClinVar.1
Natural variantiVAR_001605415A → V in MCAR. 1 Publication1
Natural variantiVAR_075604453R → W in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs376026619EnsemblClinVar.1
Natural variantiVAR_001608482G → R in MCAR. Corresponds to variant dbSNP:rs746125212EnsemblClinVar.1
Natural variantiVAR_001609485M → V in MCAR. 1 PublicationCorresponds to variant dbSNP:rs146457619EnsemblClinVar.1
Natural variantiVAR_001610496R → S in MCAR; loss of chloride channel activity; recessive. 2 PublicationsCorresponds to variant dbSNP:rs121912801EnsemblClinVar.1
Natural variantiVAR_075606499G → R in MCAR; reduced chloride transport; changed calcium channel activity; changed channel gating. 1 PublicationCorresponds to variant dbSNP:rs121912807EnsemblClinVar.1
Natural variantiVAR_075607527I → T in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075608533T → I in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075609536V → L in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_001613563V → I in MCAR. 1 Publication1
Natural variantiVAR_075611628L → P in MCAR; unknown pathological significance; no effect on calcium channel activity. 1 Publication1
Natural variantiVAR_075612640V → G in MCAR; reduced calcium channel activity. 1 Publication1
Natural variantiVAR_001614708F → L in MCAR. 1 Publication1
Natural variantiVAR_075613845G → S in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs755433272Ensembl.1
Natural variantiVAR_075614855G → E in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075615932P → L in MCAR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356706EnsemblClinVar.1
Natural variantiVAR_075616947V → E in MCAR; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi290I → C, E, F, G, K, L, Q, T, V or Y: Changed chloride channel activity; changed gating of the channel. 1 Publication1
Mutagenesisi291E → D: No effect on calcium channel activity. 1 Publication1
Mutagenesisi291E → L: Loss of calcium channel activity. 1 Publication1
Mutagenesisi496R → K: Changed gating of the channel. 1 Publication1
Mutagenesisi499G → K or E: Changed gating of the channel. 1 Publication1
Mutagenesisi499G → Q: No effect on gating of the channel. 1 Publication1
Mutagenesisi500E → Q: No effect on channel function. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1180

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

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GeneReviewsi
CLCN1

MalaCards human disease database

More...
MalaCardsi
CLCN1
MIMi160800 phenotype
255700 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188037

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

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Orphaneti
614 Thomsen and Becker disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26546

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLCN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033468

<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 ‘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_00000944291 – 988Chloride channel protein 1Add BLAST988

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 residuei886PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P35523

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

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PaxDbi
P35523

PeptideAtlas

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PeptideAtlasi
P35523

PRoteomics IDEntifications database

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PRIDEi
P35523

ProteomicsDB human proteome resource

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ProteomicsDBi
55076

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P35523

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

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PhosphoSitePlusi
P35523

<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

Predominantly expressed in skeletal muscles.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000188037 Expressed in 74 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

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CleanExi
HS_CLCN1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P35523 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P35523 HS

<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

Homodimer.1 Publication2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107594, 10 interactors

Protein interaction database and analysis system

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IntActi
P35523, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000339867

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P35523

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1988
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P35523

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P35523

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini609 – 668CBS 1PROSITE-ProRule annotationAdd BLAST60
Domaini821 – 876CBS 2PROSITE-ProRule annotationAdd BLAST56

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi188 – 192Selectivity filter part_1By similarity5
Motifi230 – 234Selectivity filter part_2By similarity5
Motifi482 – 486Selectivity filter part_3By similarity5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0476 Eukaryota
COG0038 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157383

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231297

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005332

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P35523

KEGG Orthology (KO)

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KOi
K05010

Identification of Orthologs from Complete Genome Data

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OMAi
HISKYNI

Database of Orthologous Groups

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OrthoDBi
EOG091G01RJ

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P35523

TreeFam database of animal gene trees

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TreeFami
TF352264

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.3080.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
IPR002243 Cl_channel-1

Pfam protein domain database

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Pfami
View protein in Pfam
PF00654 Voltage_CLC, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00762 CLCHANNEL
PR01112 CLCHANNEL1

Superfamily database of structural and functional annotation

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SUPFAMi
SSF81340 SSF81340, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51371 CBS, 2 hits

<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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P35523-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA
60 70 80 90 100
GPRHNVHPTQ IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ
110 120 130 140 150
DCIHRLGQVV RRKLGEDGIF LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY
160 170 180 190 200
AQMQPSLPLQ FLVWVTFPLV LILFSALFCH LISPQAVGSG IPEMKTILRG
210 220 230 240 250
VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM
260 270 280 290 300
SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR
310 320 330 340 350
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA
360 370 380 390 400
FAAIGICCGL LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV
410 420 430 440 450
IASFTFPPGM GQFMAGELMP REAISTLFDN NTWVKHAGDP ESLGQSAVWI
460 470 480 490 500
HPRVNVVIII FLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE
510 520 530 540 550
IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT
560 570 580 590 600
GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK
610 620 630 640 650
YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG
660 670 680 690 700
SVERSELQAL LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA
710 720 730 740 750
PPGRPESFAF VDEDEDEDLS GKSELPPSLA LHPSTTAPLS PEEPNGPLPG
760 770 780 790 800
HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR PTKKKTTQDS TDLVDNMSPE
810 820 830 840 850
EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL FSLLGLHLAY
860 870 880 890 900
VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP
910 920 930 940 950
PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE
960 970 980
LEELELVESP GLEEELADIL QGPSLRSTDE EDEDELIL
Length:988
Mass (Da):108,626
Last modified:November 2, 2010 - v3
<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:iCA838BCD2AF3CA68
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0N6H7C0N6_HUMAN
Chloride channel protein 1
CLCN1
76Annotation 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>
H7C1F4H7C1F4_HUMAN
Chloride channel protein 1
CLCN1
102Annotation 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>

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 conflicti697L → P in CAA80996 (PubMed:8112288).Curated1
Sequence conflicti697L → P in CAA81103 (PubMed:8112288).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07558843Q → R in MCAR; decreased chloride transport; decreased localization to the plasma membrane; dominant negative effect on chloride transport and localization to the plasma membrane; no significant effect on chloride channel activity; no effect on homodimerization. 1 Publication1
Natural variantiVAR_07558970S → L in MCAR; unknown pathological significance; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs769312894Ensembl.1
Natural variantiVAR_07559082T → A in MCAR; unknown pathological significance; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs772100356Ensembl.1
Natural variantiVAR_001582105R → C in MCAR; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs201509501Ensembl.1
Natural variantiVAR_001583118G → W2 PublicationsCorresponds to variant dbSNP:rs10282312Ensembl.1
Natural variantiVAR_075591128M → V in MCAD. 1 PublicationCorresponds to variant dbSNP:rs80356699EnsemblClinVar.1
Natural variantiVAR_001584136D → G in MCAR. 1 Publication1
Natural variantiVAR_075592137Y → D in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs748639603EnsemblClinVar.1
Natural variantiVAR_001585150Y → C in MCAR. 1 Publication1
Natural variantiVAR_075593154Q → R Polymorphism; no effect on chloride transport. 1 PublicationCorresponds to variant dbSNP:rs111482384EnsemblClinVar.1
Natural variantiVAR_075594160Q → H in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs771532474Ensembl.1
Natural variantiVAR_001586161F → V in MCAD and MCAR. 1 Publication1
Natural variantiVAR_075595164W → R in MCAR; altered chloride channel activity. 1 Publication1
Natural variantiVAR_001587165V → G in MCAR. 1
Natural variantiVAR_001588167F → L in MCAR; no effect on chloride transport. 3 PublicationsCorresponds to variant dbSNP:rs149729531EnsemblClinVar.1
Natural variantiVAR_075596190G → S in MCAR; loss of chloride channel activity. 3 PublicationsCorresponds to variant dbSNP:rs797045032EnsemblClinVar.1
Natural variantiVAR_075597193E → K in MCAD. 1 PublicationCorresponds to variant dbSNP:rs80356686EnsemblClinVar.1
Natural variantiVAR_075598197I → R in MCAR; changed chloride channel activity. 1 Publication1
Natural variantiVAR_075599198L → P in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication1
Natural variantiVAR_001589200G → R in MCAD and MCAR. 1 Publication1
Natural variantiVAR_001590230G → E in MCAD and MCAR; changed ion selectivity; loss of chloride transport; mild dominant effect. 3 PublicationsCorresponds to variant dbSNP:rs80356700EnsemblClinVar.1
Natural variantiVAR_001591236V → L in MCAR; loss of chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication1
Natural variantiVAR_001592261Y → C in MCAR. 1 PublicationCorresponds to variant dbSNP:rs200621976Ensembl.1
Natural variantiVAR_075600270G → V in MCAR; decreased chloride channel activity. 1 Publication1
Natural variantiVAR_075601277C → R in MCAR; reduced chloride transport; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs757109632Ensembl.1
Natural variantiVAR_075602277C → Y in MCAR; reduced chloride transport; changed calcium channel activity; changed gating of the channel; no effect on protein abundance. 1 Publication1
Natural variantiVAR_001593285G → E in MCAR; loss of chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs150885084EnsemblClinVar.1
Natural variantiVAR_001594286V → A in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs80356689EnsemblClinVar.1
Natural variantiVAR_001595290I → M in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs80356690EnsemblClinVar.1
Natural variantiVAR_001596291E → K in MCAR; loss of calcium channel activity; no dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs121912805EnsemblClinVar.1
Natural variantiVAR_001597300R → Q Polymorphism; no effect on chloride transport. 2 PublicationsCorresponds to variant dbSNP:rs118066140EnsemblClinVar.1
Natural variantiVAR_001598307F → S in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs80356701EnsemblClinVar.1
Natural variantiVAR_001599313A → T in MCAD and MCAR. 1 PublicationCorresponds to variant dbSNP:rs80356692EnsemblClinVar.1
Natural variantiVAR_001600317R → Q in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel. 2 PublicationsCorresponds to variant dbSNP:rs80356702EnsemblClinVar.1
Natural variantiVAR_001601327V → I in MCAR. Corresponds to variant dbSNP:rs774396430EnsemblClinVar.1
Natural variantiVAR_001602329I → T in MCAR. 1
Natural variantiVAR_001603338R → Q in MCAD and MCAR. 1 PublicationCorresponds to variant dbSNP:rs80356703EnsemblClinVar.1
Natural variantiVAR_075603412Q → P in MCAR; loss of chloride transport; decreased localization to the plasma membrane; loss of homodimerization; might be degraded. 1 PublicationCorresponds to variant dbSNP:rs1279658001Ensembl.1
Natural variantiVAR_001604413F → C in MCAR. 1 PublicationCorresponds to variant dbSNP:rs121912799EnsemblClinVar.1
Natural variantiVAR_001605415A → V in MCAR. 1 Publication1
Natural variantiVAR_001606437A → T Polymorphism. 1 PublicationCorresponds to variant dbSNP:rs41276054EnsemblClinVar.1
Natural variantiVAR_075604453R → W in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs376026619EnsemblClinVar.1
Natural variantiVAR_077244480P → H in MCAD; decreased protein abundance. 1 Publication1
Natural variantiVAR_001607480P → L in MCAD; loss of chloride transport; changed chloride channel activity; changed gating of the channel; dominant effect. 3 PublicationsCorresponds to variant dbSNP:rs80356694EnsemblClinVar.1
Natural variantiVAR_001608482G → R in MCAR. Corresponds to variant dbSNP:rs746125212EnsemblClinVar.1
Natural variantiVAR_075605484F → L in MCAD; reduced chloride transport; changed calcium channel activity; changed channel gating; no dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs1312002847Ensembl.1
Natural variantiVAR_001609485M → V in MCAR. 1 PublicationCorresponds to variant dbSNP:rs146457619EnsemblClinVar.1
Natural variantiVAR_001610496R → S in MCAR; loss of chloride channel activity; recessive. 2 PublicationsCorresponds to variant dbSNP:rs121912801EnsemblClinVar.1
Natural variantiVAR_075606499G → R in MCAR; reduced chloride transport; changed calcium channel activity; changed channel gating. 1 PublicationCorresponds to variant dbSNP:rs121912807EnsemblClinVar.1
Natural variantiVAR_075607527I → T in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075608533T → I in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075609536V → L in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_036300548E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs546411827Ensembl.1
Natural variantiVAR_001611552Q → R in MCAD and MCAR; also found in myotonia levior; reduced chloride transport; changed calcium channel activity; changed channel gating; weak dominant negative effect. 3 PublicationsCorresponds to variant dbSNP:rs80356696EnsemblClinVar.1
Natural variantiVAR_001612556I → N in MCAD and MCAR; mild form; reduced chloride transport; changed chloride channel activity; changed gating of the channel; partial dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs80356697EnsemblClinVar.1
Natural variantiVAR_001613563V → I in MCAR. 1 Publication1
Natural variantiVAR_075610614K → N Polymorphism. 1 PublicationCorresponds to variant dbSNP:rs140205115EnsemblClinVar.1
Natural variantiVAR_075611628L → P in MCAR; unknown pathological significance; no effect on calcium channel activity. 1 Publication1
Natural variantiVAR_075612640V → G in MCAR; reduced calcium channel activity. 1 Publication1
Natural variantiVAR_001614708F → L in MCAR. 1 Publication1
Natural variantiVAR_047779727P → L. Corresponds to variant dbSNP:rs13438232EnsemblClinVar.1
Natural variantiVAR_075613845G → S in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs755433272Ensembl.1
Natural variantiVAR_075614855G → E in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_075615932P → L in MCAR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356706EnsemblClinVar.1
Natural variantiVAR_075616947V → E in MCAR; unknown pathological significance. 1 Publication1
Natural variantiVAR_079520950E → K in MCAD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201506176Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z25587 Genomic DNA Translation: CAA80996.1
Z25884 mRNA Translation: CAA81103.1
CH236959 Genomic DNA Translation: EAL23786.1
BC112156 mRNA Translation: AAI12157.1
BC113495 mRNA Translation: AAI13496.1
M97820 mRNA No translation available.
L08261 Genomic DNA No translation available.
L08262 Genomic DNA No translation available.
L08263 Genomic DNA No translation available.
L08264 Genomic DNA No translation available.
L08265 Genomic DNA No translation available.
Z25753
, Z25754, Z25755, Z25756, Z25757, Z25758, Z25759, Z25760, Z25761, Z25762, Z25763, Z25764, Z25765, Z25766, Z25767, Z25752 Genomic DNA Translation: CAB56792.1
Z25768, Z25872 Genomic DNA Translation: CAB56814.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5881.1

Protein sequence database of the Protein Information Resource

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PIRi
S37078

NCBI Reference Sequences

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RefSeqi
NP_000074.2, NM_000083.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.121483

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000343257; ENSP00000339867; ENSG00000188037

Database of genes from NCBI RefSeq genomes

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GeneIDi
1180

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1180

UCSC genome browser

More...
UCSCi
uc003wcr.2 human

Keywords - Coding sequence diversityi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z25587 Genomic DNA Translation: CAA80996.1
Z25884 mRNA Translation: CAA81103.1
CH236959 Genomic DNA Translation: EAL23786.1
BC112156 mRNA Translation: AAI12157.1
BC113495 mRNA Translation: AAI13496.1
M97820 mRNA No translation available.
L08261 Genomic DNA No translation available.
L08262 Genomic DNA No translation available.
L08263 Genomic DNA No translation available.
L08264 Genomic DNA No translation available.
L08265 Genomic DNA No translation available.
Z25753
, Z25754, Z25755, Z25756, Z25757, Z25758, Z25759, Z25760, Z25761, Z25762, Z25763, Z25764, Z25765, Z25766, Z25767, Z25752 Genomic DNA Translation: CAB56792.1
Z25768, Z25872 Genomic DNA Translation: CAB56814.1
CCDSiCCDS5881.1
PIRiS37078
RefSeqiNP_000074.2, NM_000083.2
UniGeneiHs.121483

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6COYelectron microscopy3.36A/B1-988[»]
6COZelectron microscopy3.36A/B1-988[»]
ProteinModelPortaliP35523
SMRiP35523
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107594, 10 interactors
IntActiP35523, 4 interactors
STRINGi9606.ENSP00000339867

Chemistry databases

BindingDBiP35523

Protein family/group databases

TCDBi2.A.49.2.1 the chloride carrier/channel (clc) family

PTM databases

iPTMnetiP35523
PhosphoSitePlusiP35523

Polymorphism and mutation databases

BioMutaiCLCN1
DMDMi311033468

Proteomic databases

EPDiP35523
PaxDbiP35523
PeptideAtlasiP35523
PRIDEiP35523
ProteomicsDBi55076

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1180
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343257; ENSP00000339867; ENSG00000188037
GeneIDi1180
KEGGihsa:1180
UCSCiuc003wcr.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1180
DisGeNETi1180
EuPathDBiHostDB:ENSG00000188037.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CLCN1
GeneReviewsiCLCN1
HGNCiHGNC:2019 CLCN1
MalaCardsiCLCN1
MIMi118425 gene
160800 phenotype
255700 phenotype
neXtProtiNX_P35523
OpenTargetsiENSG00000188037
Orphaneti614 Thomsen and Becker disease
PharmGKBiPA26546

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000157383
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP35523
KOiK05010
OMAiHISKYNI
OrthoDBiEOG091G01RJ
PhylomeDBiP35523
TreeFamiTF352264

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

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

More...
ChiTaRSi
CLCN1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CLCN1

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

More...
GenomeRNAii
1180

Protein Ontology

More...
PROi
PR:P35523

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188037 Expressed in 74 organ(s), highest expression level in muscle of leg
CleanExiHS_CLCN1
ExpressionAtlasiP35523 baseline and differential
GenevisibleiP35523 HS

Family and domain databases

Gene3Di1.10.3080.10, 1 hit
InterProiView protein in InterPro
IPR000644 CBS_dom
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
IPR002243 Cl_channel-1
PfamiView protein in Pfam
PF00654 Voltage_CLC, 1 hit
PRINTSiPR00762 CLCHANNEL
PR01112 CLCHANNEL1
SUPFAMiSSF81340 SSF81340, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCLCN1_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: P35523
Secondary accession number(s): A4D2H5, Q2M202
<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: June 1, 1994
Last sequence update: November 2, 2010
Last modified: December 5, 2018
This is version 183 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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