UniProtKB - P56750 (CLD17_HUMAN)
Protein
Claudin-17
Gene
CLDN17
Organism
Homo sapiens (Human)
Status
Functioni
Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability.1 Publication
GO - Molecular functioni
- chloride channel activity Source: UniProtKB-KW
- identical protein binding Source: UniProtKB
- structural molecule activity Source: InterPro
GO - Biological processi
- bicellular tight junction assembly Source: GO_Central
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
- cell adhesion Source: GO_Central
Keywordsi
Molecular function | Chloride channel, Ion channel |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | P56750 |
Reactomei | R-HSA-420029, Tight junction interactions |
Protein family/group databases
TCDBi | 1.H.1.1.13, the claudin tight junction (claudin1) family |
Names & Taxonomyi
Protein namesi | Recommended name: Claudin-17 |
Gene namesi | Name:CLDN17 ORF Names:UNQ758/PRO1489 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000156282.4 |
HGNCi | HGNC:2038, CLDN17 |
MIMi | 617005, gene |
neXtProti | NX_P56750 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Other locations
- tight junction 1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- bicellular tight junction Source: UniProtKB
- chloride channel complex Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 81 | ExtracellularSequence analysisAdd BLAST | 53 | |
Transmembranei | 82 – 102 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 103 – 124 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 125 – 145 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 146 – 164 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 165 – 185 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 186 – 224 | CytoplasmicSequence analysisAdd BLAST | 39 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Tight junctionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 31 | R → E: Decreased transepithelial resistance and anion selectivity. Higher permeability to chloride, sodium and also to larger anions, including pyruvate, nitrate, and thiocyanate. 1 Publication | 1 | |
Mutagenesisi | 44 | E → A: Decreased transepithelial resistance and anion selectivity. 1 Publication | 1 | |
Mutagenesisi | 45 | R → A: Decreased transepithelial resistance, no effect on anion selectivity. 1 Publication | 1 | |
Mutagenesisi | 48 | E → K or Q: Decreased transepithelial resistance and anion selectivity. Higher permeability to chloride, sodium and also to larger anions, including pyruvate, nitrate, and thiocyanate. 1 Publication | 1 | |
Mutagenesisi | 56 | R → A: No effect on transepithelial resistance, nor on anion selectivity. Elevated permeabilities not only for chloride, but also for sodium and the larger anions, including pyruvate, nitrate and thiocyanate. 1 Publication | 1 | |
Mutagenesisi | 56 | R → T: Decreased anion selectivity. Increased permeabilities not only for chloride, but also for sodium and thiocyanate. No effect on transepithelial resistance. 1 Publication | 1 | |
Mutagenesisi | 59 | R → A: No effect on transepithelial resistance, nor on anion selectivity. Increased permeability for thiocyanate. 1 Publication | 1 | |
Mutagenesisi | 61 | R → A: Decreased anion selectivity. No effect on transepithelial resistance. 1 Publication | 1 | |
Mutagenesisi | 65 | K → A: Reduced channel formation ability. Increased transepithelial resistance. Loss of anion selectivity in favor of cation selectivity. 1 Publication | 1 | |
Mutagenesisi | 65 | K → E: No effect on channel formation ability. Loss of anion selectivity in favor of cation selectivity. No effect on transepithelial resistance. 1 Publication | 1 | |
Mutagenesisi | 65 | K → R: Strongly reduced channel formation ability. Increased transepithelial resistance. Loss of anion selectivity in favor of cation selectivity. 1 Publication | 1 | |
Mutagenesisi | 68 | S → E: Increased transepithelial resistance. Loss of anion selectivity in favor of cation (sodium) selectivity. 1 Publication | 1 | |
Mutagenesisi | 149 | Y → A: Increased transepithelial resistance. No effect on localization to cell-cell junctions. 1 Publication | 1 | |
Mutagenesisi | 154 | H → A: Loss of anion selectivity. Strongly increased permeabilities not only for chloride, but also for sodium and the larger anions, including pyruvate, nitrate and thiocyanate. No effect on localization to cell-cell junctions. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 26285 |
OpenTargetsi | ENSG00000156282 |
PharmGKBi | PA26564 |
Miscellaneous databases
Pharosi | P56750, Tdark |
Polymorphism and mutation databases
BioMutai | CLDN17 |
DMDMi | 6685309 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144777 | 1 – 224 | Claudin-17Add BLAST | 224 |
Proteomic databases
MassIVEi | P56750 |
PaxDbi | P56750 |
PeptideAtlasi | P56750 |
PRIDEi | P56750 |
ProteomicsDBi | 56946 |
PTM databases
iPTMneti | P56750 |
PhosphoSitePlusi | P56750 |
Expressioni
Tissue specificityi
In the kidney, expressed in the proximal tubule and in the Henle's loop. In the distal convoluted tubule, not expressed in all tubules. Not detected in the collecting duct (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000156282, Expressed in mouth mucosa and 48 other tissues |
Genevisiblei | P56750, HS |
Organism-specific databases
HPAi | ENSG00000156282, Group enriched (esophagus, salivary gland, tongue, vagina) |
Interactioni
Subunit structurei
Interacts with OCLN (PubMed:20375010).
1 PublicationGO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 117667, 3 interactors |
IntActi | P56750, 2 interactors |
STRINGi | 9606.ENSP00000286808 |
Miscellaneous databases
RNActi | P56750, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the claudin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502RTNJ, Eukaryota |
GeneTreei | ENSGT00940000162550 |
HOGENOMi | CLU_076370_1_2_1 |
InParanoidi | P56750 |
OMAi | VCWTANI |
OrthoDBi | 1314055at2759 |
PhylomeDBi | P56750 |
TreeFami | TF331936 |
Family and domain databases
InterProi | View protein in InterPro IPR006187, Claudin IPR017974, Claudin_CS IPR004031, PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR12002, PTHR12002, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PROSITEi | View protein in PROSITE PS01346, CLAUDIN, 1 hit |
i Sequence
Sequence statusi: Complete.
P56750-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAFYPLQIAG LVLGFLGMVG TLATTLLPQW RVSAFVGSNI IVFERLWEGL
60 70 80 90 100
WMNCIRQARV RLQCKFYSSL LALPPALETA RALMCVAVAL SLIALLIGIC
110 120 130 140 150
GMKQVQCTGS NERAKAYLLG TSGVLFILTG IFVLIPVSWT ANIIIRDFYN
160 170 180 190 200
PAIHIGQKRE LGAALFLGWA SAAVLFIGGG LLCGFCCCNR KKQGYRYPVP
210 220
GYRVPHTDKR RNTTMLSKTS TSYV
Sequence cautioni
The sequence AAQ88461 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033774 | 82 | A → T. Corresponds to variant dbSNP:rs35531957Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ250712 Genomic DNA Translation: CAB60616.1 AY358094 mRNA Translation: AAQ88461.1 Frameshift. AP001707 Genomic DNA Translation: BAA95566.1 BC101503 mRNA Translation: AAI01504.1 BC101505 mRNA Translation: AAI01506.1 |
CCDSi | CCDS13586.1 |
RefSeqi | NP_036263.1, NM_012131.2 |
Genome annotation databases
Ensembli | ENST00000286808; ENSP00000286808; ENSG00000156282 |
GeneIDi | 26285 |
KEGGi | hsa:26285 |
UCSCi | uc011acv.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ250712 Genomic DNA Translation: CAB60616.1 AY358094 mRNA Translation: AAQ88461.1 Frameshift. AP001707 Genomic DNA Translation: BAA95566.1 BC101503 mRNA Translation: AAI01504.1 BC101505 mRNA Translation: AAI01506.1 |
CCDSi | CCDS13586.1 |
RefSeqi | NP_036263.1, NM_012131.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117667, 3 interactors |
IntActi | P56750, 2 interactors |
STRINGi | 9606.ENSP00000286808 |
Protein family/group databases
TCDBi | 1.H.1.1.13, the claudin tight junction (claudin1) family |
PTM databases
iPTMneti | P56750 |
PhosphoSitePlusi | P56750 |
Polymorphism and mutation databases
BioMutai | CLDN17 |
DMDMi | 6685309 |
Proteomic databases
MassIVEi | P56750 |
PaxDbi | P56750 |
PeptideAtlasi | P56750 |
PRIDEi | P56750 |
ProteomicsDBi | 56946 |
Protocols and materials databases
Antibodypediai | 6585, 123 antibodies |
Genome annotation databases
Ensembli | ENST00000286808; ENSP00000286808; ENSG00000156282 |
GeneIDi | 26285 |
KEGGi | hsa:26285 |
UCSCi | uc011acv.3, human |
Organism-specific databases
CTDi | 26285 |
DisGeNETi | 26285 |
EuPathDBi | HostDB:ENSG00000156282.4 |
GeneCardsi | CLDN17 |
HGNCi | HGNC:2038, CLDN17 |
HPAi | ENSG00000156282, Group enriched (esophagus, salivary gland, tongue, vagina) |
MIMi | 617005, gene |
neXtProti | NX_P56750 |
OpenTargetsi | ENSG00000156282 |
PharmGKBi | PA26564 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RTNJ, Eukaryota |
GeneTreei | ENSGT00940000162550 |
HOGENOMi | CLU_076370_1_2_1 |
InParanoidi | P56750 |
OMAi | VCWTANI |
OrthoDBi | 1314055at2759 |
PhylomeDBi | P56750 |
TreeFami | TF331936 |
Enzyme and pathway databases
PathwayCommonsi | P56750 |
Reactomei | R-HSA-420029, Tight junction interactions |
Miscellaneous databases
BioGRID-ORCSi | 26285, 3 hits in 836 CRISPR screens |
GeneWikii | CLDN17 |
GenomeRNAii | 26285 |
Pharosi | P56750, Tdark |
PROi | PR:P56750 |
RNActi | P56750, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000156282, Expressed in mouth mucosa and 48 other tissues |
Genevisiblei | P56750, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006187, Claudin IPR017974, Claudin_CS IPR004031, PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR12002, PTHR12002, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PROSITEi | View protein in PROSITE PS01346, CLAUDIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CLD17_HUMAN | |
Accessioni | P56750Primary (citable) accession number: P56750 Secondary accession number(s): Q3MJB5, Q6UY37 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | May 30, 2000 | |
Last modified: | December 2, 2020 | |
This is version 144 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations