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Entry version 202 (18 Sep 2019)
Sequence version 2 (11 Jan 2001)
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Protein

H(+)/Cl(-) exchange transporter 7

Gene

CLCN7

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

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.2 Publications

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei204ChlorideBy similarity1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei247Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transportBy similarity1
Sitei314Mediates proton transfer from the protein to the inner aqueous phaseBy similarity1
Binding sitei514Chloride; via amide nitrogenBy similarity1
Binding sitei602ChlorideBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi658 – 660ATPBy similarity3
Nucleotide bindingi783 – 786ATPBy similarity4

<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

Biological processAntiport, Ion transport, Transport
LigandATP-binding, Chloride, Nucleotide-binding

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

More...
TCDBi
2.A.49.3.3 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:
H(+)/Cl(-) exchange transporter 7
Alternative name(s):
Chloride channel 7 alpha subunit
Chloride channel protein 7
Short name:
ClC-7
<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:CLCN7
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2025 CLCN7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602727 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51798

<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 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 – 126CytoplasmicBy similarityAdd BLAST126
<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>Transmembranei127 – 159HelicalBy similarityAdd BLAST33
Transmembranei174 – 197HelicalBy similarityAdd BLAST24
<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>Intramembranei206 – 213HelicalBy similarity8
Transmembranei223 – 241HelicalBy similarityAdd BLAST19
Transmembranei247 – 264HelicalBy similarityAdd BLAST18
Intramembranei288 – 300HelicalBy similarityAdd BLAST13
Intramembranei304 – 312HelicalBy similarity9
Transmembranei322 – 341HelicalBy similarityAdd BLAST20
Transmembranei375 – 405HelicalBy similarityAdd BLAST31
Transmembranei410 – 432HelicalBy similarityAdd BLAST23
Transmembranei487 – 507HelicalBy similarityAdd BLAST21
Transmembranei512 – 535HelicalBy similarityAdd BLAST24
Intramembranei545 – 559HelicalBy similarityAdd BLAST15
Intramembranei560 – 562Note=Loop between two helicesBy similarity3
Intramembranei563 – 574HelicalBy similarityAdd BLAST12
Intramembranei575 – 578Note=Loop between two helicesBy similarity4
Transmembranei579 – 597HelicalBy similarityAdd BLAST19
Topological domaini598 – 805CytoplasmicBy similarityAdd BLAST208

Keywords - Cellular componenti

Lysosome, 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

Osteopetrosis, autosomal recessive 4 (OPTB4)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
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_064637132L → P in OPTB4. 1 Publication1
Natural variantiVAR_064638214N → S in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs367567630EnsemblClinVar.1
Natural variantiVAR_075577224L → R in OPTB4; unknown pathological significance. 1 Publication1
Natural variantiVAR_064639227Missing in OPTB4. 1 Publication1
Natural variantiVAR_020998240G → R in OPTB4. 2 PublicationsCorresponds to variant dbSNP:rs1360480518Ensembl.1
Natural variantiVAR_020999249P → R in OPTB4. 1 Publication1
Natural variantiVAR_037427261I → F in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs121434436EnsemblClinVar.1
Natural variantiVAR_075580299A → V in OPTB4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs977932714Ensembl.1
Natural variantiVAR_021001332M → V in OPTB4. 1 Publication1
Natural variantiVAR_064641403R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs765444328Ensembl.1
Natural variantiVAR_064642521G → R in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs368190250Ensembl.1
Natural variantiVAR_064643526R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs139329533Ensembl.1
Natural variantiVAR_021004526R → W in OPTB4. 2 PublicationsCorresponds to variant dbSNP:rs1233085260Ensembl.1
Natural variantiVAR_064644549L → P in OPTB4. 1 Publication1
Natural variantiVAR_021005614L → P in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1064794323EnsemblClinVar.1
Natural variantiVAR_064645651L → P in OPTB4. 1 Publication1
Natural variantiVAR_021007744S → F in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1320932332Ensembl.1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant dbSNP:rs121434433EnsemblClinVar.1
Natural variantiVAR_064647762R → W in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1490598538Ensembl.1
Natural variantiVAR_017839766L → P in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs121434434EnsemblClinVar.1
Natural variantiVAR_064648767R → P in OPTB4. 1 Publication1
Natural variantiVAR_021008767R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs772579858Ensembl.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant dbSNP:rs121434435EnsemblClinVar.1
Osteopetrosis, autosomal dominant 2 (OPTA2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075576213L → F in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_020997215G → R in OPTA2. 2 PublicationsCorresponds to variant dbSNP:rs397515539EnsemblClinVar.1
Natural variantiVAR_021000286R → Q in OPTA2. 2 PublicationsCorresponds to variant dbSNP:rs760956030EnsemblClinVar.1
Natural variantiVAR_075578286R → W in OPTA2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1291061962Ensembl.1
Natural variantiVAR_075579290S → Y in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064640318F → L in OPTA2. 1 Publication1
Natural variantiVAR_075581326R → G in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075582347G → R in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075583473S → N in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021003490L → F in OPTA2. 1 Publication1
Natural variantiVAR_075584564L → P in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021006677G → V in OPTA2. 1 Publication1
Natural variantiVAR_064646758F → L in OPTA2. 1 PublicationCorresponds to variant dbSNP:rs760740877Ensembl.1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant dbSNP:rs121434433EnsemblClinVar.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant dbSNP:rs121434435EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
1186

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

More...
GeneReviewsi
CLCN7

MalaCards human disease database

More...
MalaCardsi
CLCN7
MIMi166600 phenotype
611490 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103249

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

More...
Orphaneti
53 Albers-Schoenberg osteopetrosis
667 Autosomal recessive malignant osteopetrosis
210110 Intermediate osteopetrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26552

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P51798

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
706

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLCN7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12644301

<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_00000944521 – 805H(+)/Cl(-) exchange transporter 7Add BLAST805

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 residuei9PhosphoserineBy similarity1
Modified residuei60PhosphoserineCombined sources1
Modified residuei801PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51798

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51798

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P51798

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P51798

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

More...
PaxDbi
P51798

PeptideAtlas

More...
PeptideAtlasi
P51798

PRoteomics IDEntifications database

More...
PRIDEi
P51798

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19628
56398 [P51798-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51798

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

More...
PhosphoSitePlusi
P51798

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P51798

<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

Brain, testis, muscle and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103249 Expressed in 230 organ(s), highest expression level in left adrenal gland cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P51798 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P51798 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043019
HPA043586

<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

Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107600, 50 interactors

Protein interaction database and analysis system

More...
IntActi
P51798, 54 interactors

Molecular INTeraction database

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MINTi
P51798

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000372193

<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>Domaini631 – 695CBS 1PROSITE-ProRule annotationAdd BLAST65
Domaini741 – 799CBS 2PROSITE-ProRule annotationAdd BLAST59

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>Motifi203 – 207Selectivity filter part_1By similarity5
Motifi245 – 249Selectivity filter part_2By similarity5
Motifi512 – 516Selectivity 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
KOG0474 Eukaryota
COG0038 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158458

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231081

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51798

KEGG Orthology (KO)

More...
KOi
K05016

Database of Orthologous Groups

More...
OrthoDBi
1221585at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51798

TreeFam database of animal gene trees

More...
TreeFami
TF313867

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.3080.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
IPR002249 Cl_channel-7

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00571 CBS, 2 hits
PF00654 Voltage_CLC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00762 CLCHANNEL
PR01118 CLCHANNEL7

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00116 CBS, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81340 SSF81340, 1 hit

PROSITE; a protein domain and family database

More...
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>. 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.

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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51798-1) [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
MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR
60 70 80 90 100
SALFRVGHMS SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD
110 120 130 140 150
NSENQLFLEE ERRINHTAFR TVEIKRWVIC ALIGILTGLV ACFIDIVVEN
160 170 180 190 200
LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA TLNAAFVLVG SVIVAFIEPV
210 220 230 240 250
AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG GLAVGKEGPM
260 270 280 290 300
IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA
310 320 330 340 350
FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW
360 370 380 390 400
DLSSPGLINF GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT
410 420 430 440 450
MFRIRYIHRP CLQVIEAVLV AAVTATVAFV LIYSSRDCQP LQGGSMSYPL
460 470 480 490 500
QLFCADGEYN SMAAAFFNTP EKSVVSLFHD PPGSYNPLTL GLFTLVYFFL
510 520 530 540 550
ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI WADPGKYALM
560 570 580 590 600
GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG
610 620 630 640 650
LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV
660 670 680 690 700
LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG
710 720 730 740 750
LVQRRLRLKD FRDAYPRFPP IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ
760 770 780 790 800
EASLPRVFKL FRALGLRHLV VVDNRNQVVG LVTRKDLARY RLGKRGLEEL

SLAQT
Length:805
Mass (Da):88,679
Last modified:January 11, 2001 - v2
<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:iE56BC0B4ADE1C695
GO
Isoform 2 (identifier: P51798-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-71: Missing.

Note: No experimental confirmation available.
Show »
Length:781
Mass (Da):86,026
Checksum:i21BA4E8E144A260C
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y2M6H0Y2M6_HUMAN
Chloride channel 7, isoform CRA_c
CLCN7 hCG_42716
901Annotation score:

Annotation score:2 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>
I3L470I3L470_HUMAN
H(+)/Cl(-) exchange transporter 7
CLCN7
216Annotation 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>
H3BNG8H3BNG8_HUMAN
H(+)/Cl(-) exchange transporter 7
CLCN7
118Annotation 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 conflicti74D → V in BAF84825 (PubMed:14702039).Curated1
Sequence conflicti267T → S in CAA91556 (PubMed:8543009).Curated1
Sequence conflicti279F → L in CAA91556 (PubMed:8543009).Curated1
Sequence conflicti279F → L in CAA05083 (PubMed:9565675).Curated1
Sequence conflicti324T → A in BAF84825 (PubMed:14702039).Curated1
Sequence conflicti348N → S in BAG51745 (PubMed:14702039).Curated1
Sequence conflicti415I → V in BAG51745 (PubMed:14702039).Curated1
Sequence conflicti710D → G in BAG51745 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064637132L → P in OPTB4. 1 Publication1
Natural variantiVAR_075576213L → F in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064638214N → S in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs367567630EnsemblClinVar.1
Natural variantiVAR_020997215G → R in OPTA2. 2 PublicationsCorresponds to variant dbSNP:rs397515539EnsemblClinVar.1
Natural variantiVAR_075577224L → R in OPTB4; unknown pathological significance. 1 Publication1
Natural variantiVAR_064639227Missing in OPTB4. 1 Publication1
Natural variantiVAR_020998240G → R in OPTB4. 2 PublicationsCorresponds to variant dbSNP:rs1360480518Ensembl.1
Natural variantiVAR_020999249P → R in OPTB4. 1 Publication1
Natural variantiVAR_037427261I → F in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs121434436EnsemblClinVar.1
Natural variantiVAR_021000286R → Q in OPTA2. 2 PublicationsCorresponds to variant dbSNP:rs760956030EnsemblClinVar.1
Natural variantiVAR_075578286R → W in OPTA2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1291061962Ensembl.1
Natural variantiVAR_075579290S → Y in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075580299A → V in OPTB4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs977932714Ensembl.1
Natural variantiVAR_064640318F → L in OPTA2. 1 Publication1
Natural variantiVAR_075581326R → G in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021001332M → V in OPTB4. 1 Publication1
Natural variantiVAR_075582347G → R in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064641403R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs765444328Ensembl.1
Natural variantiVAR_021002418V → M1 PublicationCorresponds to variant dbSNP:rs12926089EnsemblClinVar.1
Natural variantiVAR_075583473S → N in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021003490L → F in OPTA2. 1 Publication1
Natural variantiVAR_064642521G → R in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs368190250Ensembl.1
Natural variantiVAR_064643526R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs139329533Ensembl.1
Natural variantiVAR_021004526R → W in OPTB4. 2 PublicationsCorresponds to variant dbSNP:rs1233085260Ensembl.1
Natural variantiVAR_064644549L → P in OPTB4. 1 Publication1
Natural variantiVAR_075584564L → P in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021005614L → P in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1064794323EnsemblClinVar.1
Natural variantiVAR_064645651L → P in OPTB4. 1 Publication1
Natural variantiVAR_021006677G → V in OPTA2. 1 Publication1
Natural variantiVAR_021007744S → F in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1320932332Ensembl.1
Natural variantiVAR_064646758F → L in OPTA2. 1 PublicationCorresponds to variant dbSNP:rs760740877Ensembl.1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant dbSNP:rs121434433EnsemblClinVar.1
Natural variantiVAR_064647762R → W in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs1490598538Ensembl.1
Natural variantiVAR_017839766L → P in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs121434434EnsemblClinVar.1
Natural variantiVAR_064648767R → P in OPTB4. 1 Publication1
Natural variantiVAR_021008767R → Q in OPTB4. 1 PublicationCorresponds to variant dbSNP:rs772579858Ensembl.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant dbSNP:rs121434435EnsemblClinVar.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_04569848 – 71Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF224741 mRNA Translation: AAF34711.1
AK056551 mRNA Translation: BAG51745.1
AK291404 mRNA Translation: BAF84093.1
AK292136 mRNA Translation: BAF84825.1
AL031600 Genomic DNA No translation available.
AL031705 Genomic DNA No translation available.
BC012737 mRNA Translation: AAH12737.1
Z67743 mRNA Translation: CAA91556.1
AJ001910 Genomic DNA Translation: CAA05083.1
U88844 mRNA Translation: AAB48530.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32361.1 [P51798-1]
CCDS45378.1 [P51798-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S68427

NCBI Reference Sequences

More...
RefSeqi
NP_001107803.1, NM_001114331.2 [P51798-2]
NP_001278.1, NM_001287.5 [P51798-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000382745; ENSP00000372193; ENSG00000103249 [P51798-1]
ENST00000448525; ENSP00000410907; ENSG00000103249 [P51798-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1186

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1186

UCSC genome browser

More...
UCSCi
uc002clv.4 human [P51798-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF224741 mRNA Translation: AAF34711.1
AK056551 mRNA Translation: BAG51745.1
AK291404 mRNA Translation: BAF84093.1
AK292136 mRNA Translation: BAF84825.1
AL031600 Genomic DNA No translation available.
AL031705 Genomic DNA No translation available.
BC012737 mRNA Translation: AAH12737.1
Z67743 mRNA Translation: CAA91556.1
AJ001910 Genomic DNA Translation: CAA05083.1
U88844 mRNA Translation: AAB48530.1
CCDSiCCDS32361.1 [P51798-1]
CCDS45378.1 [P51798-2]
PIRiS68427
RefSeqiNP_001107803.1, NM_001114331.2 [P51798-2]
NP_001278.1, NM_001287.5 [P51798-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi107600, 50 interactors
IntActiP51798, 54 interactors
MINTiP51798
STRINGi9606.ENSP00000372193

Chemistry databases

GuidetoPHARMACOLOGYi706

Protein family/group databases

TCDBi2.A.49.3.3 the chloride carrier/channel (clc) family

PTM databases

iPTMnetiP51798
PhosphoSitePlusiP51798
SwissPalmiP51798

Polymorphism and mutation databases

BioMutaiCLCN7
DMDMi12644301

Proteomic databases

EPDiP51798
jPOSTiP51798
MassIVEiP51798
MaxQBiP51798
PaxDbiP51798
PeptideAtlasiP51798
PRIDEiP51798
ProteomicsDBi19628
56398 [P51798-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1186

Genome annotation databases

EnsembliENST00000382745; ENSP00000372193; ENSG00000103249 [P51798-1]
ENST00000448525; ENSP00000410907; ENSG00000103249 [P51798-2]
GeneIDi1186
KEGGihsa:1186
UCSCiuc002clv.4 human [P51798-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1186
DisGeNETi1186

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CLCN7
GeneReviewsiCLCN7
HGNCiHGNC:2025 CLCN7
HPAiHPA043019
HPA043586
MalaCardsiCLCN7
MIMi166600 phenotype
602727 gene
611490 phenotype
neXtProtiNX_P51798
OpenTargetsiENSG00000103249
Orphaneti53 Albers-Schoenberg osteopetrosis
667 Autosomal recessive malignant osteopetrosis
210110 Intermediate osteopetrosis
PharmGKBiPA26552

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0474 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000158458
HOGENOMiHOG000231081
InParanoidiP51798
KOiK05016
OrthoDBi1221585at2759
PhylomeDBiP51798
TreeFamiTF313867

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
CLCN7 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CLCN7

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

More...
GenomeRNAii
1186
PharosiP51798

Protein Ontology

More...
PROi
PR:P51798

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103249 Expressed in 230 organ(s), highest expression level in left adrenal gland cortex
ExpressionAtlasiP51798 baseline and differential
GenevisibleiP51798 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
IPR002249 Cl_channel-7
PfamiView protein in Pfam
PF00571 CBS, 2 hits
PF00654 Voltage_CLC, 1 hit
PRINTSiPR00762 CLCHANNEL
PR01118 CLCHANNEL7
SMARTiView protein in SMART
SM00116 CBS, 2 hits
SUPFAMiSSF81340 SSF81340, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiCLCN7_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: P51798
Secondary accession number(s): A6NEJ7
, A8K5T9, A8K7X1, B3KPN3, E9PDB9, Q9NYX5
<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: October 1, 1996
Last sequence update: January 11, 2001
Last modified: September 18, 2019
This is version 202 of the entry and version 2 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, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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