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UniProtKB - Q9NZA1 (CLIC5_HUMAN)

Entry version 177 (18 Sep 2019)
Sequence version 3 (25 Nov 2008)
Previous versions | rss
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Protein

Chloride intracellular channel protein 5

Gene

CLIC5

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

Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity).By similarity4 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processHearing, Ion transport, Sensory transduction, Transport, Vision
LigandChloride

<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 intracellular channel protein 5
<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:CLIC5
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13517 CLIC5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607293 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NZA1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei193 – 213Helical; Note=After insertion into the membraneSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Golgi apparatus, 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

Deafness, autosomal recessive, 103 (DFNB103)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia.
Related information in OMIM

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		53405

MalaCards human disease database

More...MalaCardsi		CLIC5
MIMi616042 phenotype

Open Targets

More...OpenTargetsi		ENSG00000112782

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

More...Orphaneti		90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26592

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CLIC5

Domain mapping of disease mutations (DMDM)

More...DMDMi		215274174

<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_00001442141 – 410Chloride intracellular channel protein 5Add BLAST410

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NZA1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NZA1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NZA1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NZA1

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

More...PaxDbi		Q9NZA1

PeptideAtlas

More...PeptideAtlasi		Q9NZA1

PRoteomics IDEntifications database

More...PRIDEi		Q9NZA1

ProteomicsDB human proteome resource

More...ProteomicsDBi		72834
83343 [Q9NZA1-1]
83344 [Q9NZA1-2]

2D gel databases

USC-OGP 2-DE database

More...OGPi		Q9NZA1

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NZA1

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

More...PhosphoSitePlusi		Q9NZA1

<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

Widely expressed in both fetal and adult human tissues (PubMed:24781754). Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112782 Expressed in 209 organ(s), highest expression level in renal glomerulus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NZA1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NZA1 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA074371

<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

Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1.

Interacts with AKAP9.

2 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		119781, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NZA1

Protein interaction database and analysis system

More...IntActi		Q9NZA1, 9 interactors

Molecular INTeraction database

More...MINTi		Q9NZA1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000185206

<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

3D structure databases

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

More...SMRi		Q9NZA1

Database of comparative protein structure models

More...ModBasei		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>Domaini260 – 400GST C-terminalAdd BLAST141

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).By similarity

<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

Belongs to the chloride channel CLIC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1422 Eukaryota
ENOG410ZRK6 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156406

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000065740

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NZA1

KEGG Orthology (KO)

More...KOi		K05025

Identification of Orthologs from Complete Genome Data

More...OMAi		GAICKAG

Database of Orthologous Groups

More...OrthoDBi		974249at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NZA1

TreeFam database of animal gene trees

More...TreeFami		TF315438

Family and domain databases

Conserved Domains Database

More...CDDi		cd10297 GST_C_CLIC5, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002946 CLIC
IPR030264 CLIC-5
IPR042069 CLIC5_C_GST
IPR010987 Glutathione-S-Trfase_C-like
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR004045 Glutathione_S-Trfase_N
IPR036249 Thioredoxin-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR45476:SF4 PTHR45476:SF4, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13417 GST_N_3, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01263 INTCLCHANNEL

Structure-Function Linkage Database

More...SFLDi		SFLDS00019 Glutathione_Transferase_(cytos, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47616 SSF47616, 1 hit
SSF52833 SSF52833, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00862 O-ClC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50405 GST_CTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9NZA1-1) [UniParc]FASTAAdd to basket
Also known as: CLIC5B

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
MNDEDYSTIY DTIQNERTYE VPDQPEENES PHYDDVHEYL RPENDLYATQ 
        60         70         80         90        100
LNTHEYDFVS VYTIKGEETS LASVQSEDRG YLLPDEIYSE LQEAHPGEPQ 
       110        120        130        140        150
EDRGISMEGL YSSTQDQQLC AAELQENGSV MKEDLPSPSS FTIQHSKAFS 
       160        170        180        190        200
TTKYSCYSDA EGLEEKEGAH MNPEIYLFVK AGIDGESIGN CPFSQRLFMI 
       210        220        230        240        250
LWLKGVVFNV TTVDLKRKPA DLHNLAPGTH PPFLTFNGDV KTDVNKIEEF 
       260        270        280        290        300
LEETLTPEKY PKLAAKHRES NTAGIDIFSK FSAYIKNTKQ QNNAALERGL 
       310        320        330        340        350
TKALKKLDDY LNTPLPEEID ANTCGEDKGS RRKFLDGDEL TLADCNLLPK 
       360        370        380        390        400
LHVVKIVAKK YRNYDIPAEM TGLWRYLKNA YARDEFTNTC AADSEIELAY 
       410
ADVAKRLSRS
Length:410
Mass (Da):46,503
Last modified:November 25, 2008 - 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:iE26D307775F8354C
GO
Isoform 1 (identifier: Q9NZA1-2) [UniParc]FASTAAdd to basket
Also known as: CLIC5A

The sequence of this isoform differs from the canonical sequence as follows:
     1-159: Missing.
     160-180: AEGLEEKEGAHMNPEIYLFVK → MTDSATANGDDRDPEIELFVK

Show »
Length:251
Mass (Da):28,179
Checksum:i1E8658EB7687C60D
GO
Isoform 3 (identifier: Q9NZA1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MNDEDYSTIYDTIQNER → MTDSATANGDDRDPEIE
     18-176: Missing.
     356-410: IVAKKYRNYDIPAEMTGLWRYLKNAYARDEFTNTCAADSEIELAYADVAKRLSRS → EQVPLKGMI

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):22,830
Checksum:i5F6C595B3B4842F2
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
A0A2R8Y615A0A2R8Y615_HUMAN
Chloride intracellular channel prot...
CLIC5
242Annotation 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>
A0A2R8Y4M1A0A2R8Y4M1_HUMAN
Chloride intracellular channel prot...
CLIC5
200Annotation 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>
A0A2R8YGW2A0A2R8YGW2_HUMAN
Chloride intracellular channel prot...
CLIC5
222Annotation 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 conflicti201L → F in AAK52083 (PubMed:12163479).Curated1
Isoform 1 (identifier: Q9NZA1-2)
Sequence conflicti12R → S in AAF66928 (PubMed:10793131).Curated1

Natural variant

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_059208114T → A. Corresponds to variant dbSNP:rs723580EnsemblClinVar.1
Natural variantiVAR_047541257P → H. Corresponds to variant dbSNP:rs35822882EnsemblClinVar.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_0008691 – 159Missing in isoform 1. 3 PublicationsAdd BLAST159
Alternative sequenceiVSP_0448891 – 17MNDED…IQNER → MTDSATANGDDRDPEIE in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_04489018 – 176Missing in isoform 3. 1 PublicationAdd BLAST159
Alternative sequenceiVSP_000870160 – 180AEGLE…YLFVK → MTDSATANGDDRDPEIELFV K in isoform 1. 3 PublicationsAdd BLAST21
Alternative sequenceiVSP_044891356 – 410IVAKK…RLSRS → EQVPLKGMI in isoform 3. 1 PublicationAdd BLAST55

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
AF216941 mRNA Translation: AAF66928.1
AY032602 mRNA Translation: AAK52083.1
AK075163 mRNA Translation: BAC11444.1
AK097048 mRNA Translation: BAG53413.1
AK075144 mRNA Translation: BAC11432.1
AL050336 Genomic DNA No translation available.
AL357057 Genomic DNA No translation available.
AL355522 Genomic DNA No translation available.
AL591211 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04286.1
CH471081 Genomic DNA Translation: EAX04287.1
BC035968 mRNA Translation: AAH35968.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47438.1 [Q9NZA1-1]
CCDS4914.1 [Q9NZA1-2]
CCDS59022.1 [Q9NZA1-3]

NCBI Reference Sequences

More...RefSeqi		NP_001107558.1, NM_001114086.1 [Q9NZA1-1]
NP_001242952.1, NM_001256023.1 [Q9NZA1-3]
NP_058625.2, NM_016929.4 [Q9NZA1-2]
XP_016866442.1, XM_017010953.1 [Q9NZA1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000185206; ENSP00000185206; ENSG00000112782 [Q9NZA1-1]
ENST00000339561; ENSP00000344165; ENSG00000112782 [Q9NZA1-2]
ENST00000544153; ENSP00000439195; ENSG00000112782 [Q9NZA1-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		53405

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:53405

UCSC genome browser

More...UCSCi		uc003oxu.5 human [Q9NZA1-1]

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
AF216941 mRNA Translation: AAF66928.1
AY032602 mRNA Translation: AAK52083.1
AK075163 mRNA Translation: BAC11444.1
AK097048 mRNA Translation: BAG53413.1
AK075144 mRNA Translation: BAC11432.1
AL050336 Genomic DNA No translation available.
AL357057 Genomic DNA No translation available.
AL355522 Genomic DNA No translation available.
AL591211 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04286.1
CH471081 Genomic DNA Translation: EAX04287.1
BC035968 mRNA Translation: AAH35968.1
CCDSiCCDS47438.1 [Q9NZA1-1]
CCDS4914.1 [Q9NZA1-2]
CCDS59022.1 [Q9NZA1-3]
RefSeqiNP_001107558.1, NM_001114086.1 [Q9NZA1-1]
NP_001242952.1, NM_001256023.1 [Q9NZA1-3]
NP_058625.2, NM_016929.4 [Q9NZA1-2]
XP_016866442.1, XM_017010953.1 [Q9NZA1-1]

3D structure databases

SMRiQ9NZA1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119781, 7 interactors
CORUMiQ9NZA1
IntActiQ9NZA1, 9 interactors
MINTiQ9NZA1
STRINGi9606.ENSP00000185206

PTM databases

iPTMnetiQ9NZA1
PhosphoSitePlusiQ9NZA1

Polymorphism and mutation databases

BioMutaiCLIC5
DMDMi215274174

2D gel databases

OGPiQ9NZA1

Proteomic databases

EPDiQ9NZA1
jPOSTiQ9NZA1
MassIVEiQ9NZA1
MaxQBiQ9NZA1
PaxDbiQ9NZA1
PeptideAtlasiQ9NZA1
PRIDEiQ9NZA1
ProteomicsDBi72834
83343 [Q9NZA1-1]
83344 [Q9NZA1-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		53405
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000185206; ENSP00000185206; ENSG00000112782 [Q9NZA1-1]
ENST00000339561; ENSP00000344165; ENSG00000112782 [Q9NZA1-2]
ENST00000544153; ENSP00000439195; ENSG00000112782 [Q9NZA1-3]
GeneIDi53405
KEGGihsa:53405
UCSCiuc003oxu.5 human [Q9NZA1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		53405
DisGeNETi53405

GeneCards: human genes, protein and diseases

More...GeneCardsi		CLIC5
HGNCiHGNC:13517 CLIC5
HPAiHPA074371
MalaCardsiCLIC5
MIMi607293 gene
616042 phenotype
neXtProtiNX_Q9NZA1
OpenTargetsiENSG00000112782
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA26592

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1422 Eukaryota
ENOG410ZRK6 LUCA
GeneTreeiENSGT00940000156406
HOGENOMiHOG000065740
InParanoidiQ9NZA1
KOiK05025
OMAiGAICKAG
OrthoDBi974249at2759
PhylomeDBiQ9NZA1
TreeFamiTF315438

Miscellaneous databases

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

More...ChiTaRSi		CLIC5 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CLIC5

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

More...GenomeRNAii		53405

Pharos

More...Pharosi		Q9NZA1

Protein Ontology

More...PROi		PR:Q9NZA1

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112782 Expressed in 209 organ(s), highest expression level in renal glomerulus
ExpressionAtlasiQ9NZA1 baseline and differential
GenevisibleiQ9NZA1 HS

Family and domain databases

CDDicd10297 GST_C_CLIC5, 1 hit
InterProiView protein in InterPro
IPR002946 CLIC
IPR030264 CLIC-5
IPR042069 CLIC5_C_GST
IPR010987 Glutathione-S-Trfase_C-like
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR004045 Glutathione_S-Trfase_N
IPR036249 Thioredoxin-like_sf
PANTHERiPTHR45476:SF4 PTHR45476:SF4, 1 hit
PfamiView protein in Pfam
PF13417 GST_N_3, 1 hit
PRINTSiPR01263 INTCLCHANNEL
SFLDiSFLDS00019 Glutathione_Transferase_(cytos, 1 hit
SUPFAMiSSF47616 SSF47616, 1 hit
SSF52833 SSF52833, 1 hit
TIGRFAMsiTIGR00862 O-ClC, 1 hit
PROSITEiView protein in PROSITE
PS50405 GST_CTER, 1 hit

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 nameiCLIC5_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: Q9NZA1
Secondary accession number(s): B3KUF1
, Q5T4Z0, Q8NBY3, Q96JT5, Q9BWZ0
<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: March 27, 2002
Last sequence update: November 25, 2008
Last modified: September 18, 2019
This is version 177 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

Complete proteome, Reference proteome

Documents

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