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Protein

Claudin-16

Gene

CLDN16

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processIon transport, Transport
LigandMagnesium

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions

Protein family/group databases

TCDBi1.H.1.1.1 the claudin tight junction (claudin1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-16
Alternative name(s):
Paracellin-1
Short name:
PCLN-1
Gene namesi
Name:CLDN16
Synonyms:PCLN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000113946.3
HGNCiHGNC:2037 CLDN16
MIMi603959 gene
neXtProtiNX_Q9Y5I7

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 73CytoplasmicSequence analysisAdd BLAST73
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Topological domaini95 – 150ExtracellularSequence analysisAdd BLAST56
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21
Topological domaini172 – 185CytoplasmicSequence analysisAdd BLAST14
Transmembranei186 – 206HelicalSequence analysisAdd BLAST21
Topological domaini207 – 239ExtracellularSequence analysisAdd BLAST33
Transmembranei240 – 260HelicalSequence analysisAdd BLAST21
Topological domaini261 – 305CytoplasmicSequence analysisAdd BLAST45

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Hypomagnesemia 3 (HOMG3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia.
See also OMIM:248250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00817371M → R in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893724EnsemblClinVar.1
Natural variantiVAR_017228141H → D in HOMG3. 2 Publications1
Natural variantiVAR_017229145L → P in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893731EnsemblClinVar.1
Natural variantiVAR_017230149R → L in HOMG3. 1 Publication1
Natural variantiVAR_017231151L → F in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893729EnsemblClinVar.1
Natural variantiVAR_017232151L → P in HOMG3. 1 Publication1
Natural variantiVAR_017233151L → W in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893730EnsemblClinVar.1
Natural variantiVAR_008174167L → P in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893725EnsemblClinVar.1
Natural variantiVAR_008175191G → R in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893722EnsemblClinVar.1
Natural variantiVAR_017234198G → A in HOMG3. 1 Publication1
Natural variantiVAR_008176198G → D in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893723EnsemblClinVar.1
Natural variantiVAR_017235209A → T in HOMG3. 1 Publication1
Natural variantiVAR_017236216R → T in HOMG3. 1 Publication1
Natural variantiVAR_008177232F → C in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893726EnsemblClinVar.1
Natural variantiVAR_008178233G → D in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893727EnsemblClinVar.1
Natural variantiVAR_008179235S → F in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893728EnsemblClinVar.1
Natural variantiVAR_017237235S → P in HOMG3. 1 Publication1
Natural variantiVAR_008172239G → R in HOMG3. 3 PublicationsCorresponds to variant dbSNP:rs104893721EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary hypomagnesemia

Organism-specific databases

DisGeNETi10686
MalaCardsiCLDN16
MIMi248250 phenotype
OpenTargetsiENSG00000113946
Orphaneti31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
PharmGKBiPA26563

Polymorphism and mutation databases

BioMutaiCLDN16
DMDMi6685318

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447741 – 305Claudin-16Add BLAST305

Proteomic databases

PaxDbiQ9Y5I7
PeptideAtlasiQ9Y5I7
PRIDEiQ9Y5I7
ProteomicsDBi86416

PTM databases

iPTMnetiQ9Y5I7
PhosphoSitePlusiQ9Y5I7

Expressioni

Tissue specificityi

Kidney-specific, including the thick ascending limb of Henle (TAL).

Gene expression databases

BgeeiENSG00000113946 Expressed in 74 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CLDN16
ExpressionAtlasiQ9Y5I7 baseline and differential
GenevisibleiQ9Y5I7 HS

Organism-specific databases

HPAiHPA056020

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Cldn14Q9Z0S33EBI-7774981,EBI-7774956From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115925, 1 interactor
DIPiDIP-48951N
IntActiQ9Y5I7, 3 interactors
MINTiQ9Y5I7
STRINGi9606.ENSP00000264734

Structurei

3D structure databases

ProteinModelPortaliQ9Y5I7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEIE Eukaryota
ENOG410XP0E LUCA
GeneTreeiENSGT00730000111162
HOGENOMiHOG000111787
HOVERGENiHBG050987
InParanoidiQ9Y5I7
KOiK06087
OMAiVSTKCRG
OrthoDBiEOG091G0MX2
PhylomeDBiQ9Y5I7
TreeFamiTF331936

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR003927 Claudin16
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PTHR12002:SF56 PTHR12002:SF56, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01447 CLAUDIN16
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

Q9Y5I7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTSRTPLLVT ACLYYSYCNS RHLQQGVRKS KRPVFSHCQV PETQKTDTRH
60 70 80 90 100
LSGARAGVCP CCHPDGLLAT MRDLLQYIAC FFAFFSAGFL IVATWTDCWM
110 120 130 140 150
VNADDSLEVS TKCRGLWWEC VTNAFDGIRT CDEYDSILAE HPLKLVVTRA
160 170 180 190 200
LMITADILAG FGFLTLLLGL DCVKFLPDEP YIKVRICFVA GATLLIAGTP
210 220 230 240 250
GIIGSVWYAV DVYVERSTLV LHNIFLGIQY KFGWSCWLGM AGSLGCFLAG
260 270 280 290 300
AVLTCCLYLF KDVGPERNYP YSLRKAYSAA GVSMAKSYSA PRTETAKMYA

VDTRV
Length:305
Mass (Da):33,836
Last modified:November 1, 1999 - v1
Checksum:i2A85A19A39727329
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0SDD8A0SDD8_HUMAN
Claudin-16
CLDN16
119Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00817371M → R in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893724EnsemblClinVar.1
Natural variantiVAR_017228141H → D in HOMG3. 2 Publications1
Natural variantiVAR_017229145L → P in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893731EnsemblClinVar.1
Natural variantiVAR_017230149R → L in HOMG3. 1 Publication1
Natural variantiVAR_017231151L → F in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893729EnsemblClinVar.1
Natural variantiVAR_017232151L → P in HOMG3. 1 Publication1
Natural variantiVAR_017233151L → W in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893730EnsemblClinVar.1
Natural variantiVAR_008174167L → P in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893725EnsemblClinVar.1
Natural variantiVAR_008175191G → R in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893722EnsemblClinVar.1
Natural variantiVAR_017234198G → A in HOMG3. 1 Publication1
Natural variantiVAR_008176198G → D in HOMG3. 2 PublicationsCorresponds to variant dbSNP:rs104893723EnsemblClinVar.1
Natural variantiVAR_017235209A → T in HOMG3. 1 Publication1
Natural variantiVAR_017236216R → T in HOMG3. 1 Publication1
Natural variantiVAR_008177232F → C in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893726EnsemblClinVar.1
Natural variantiVAR_008178233G → D in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893727EnsemblClinVar.1
Natural variantiVAR_008179235S → F in HOMG3. 1 PublicationCorresponds to variant dbSNP:rs104893728EnsemblClinVar.1
Natural variantiVAR_017237235S → P in HOMG3. 1 Publication1
Natural variantiVAR_008172239G → R in HOMG3. 3 PublicationsCorresponds to variant dbSNP:rs104893721EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152101 mRNA Translation: AAD43096.1
BC069662 mRNA Translation: AAH69662.1
BC069682 mRNA Translation: AAH69682.1
BC069759 mRNA Translation: AAH69759.1
BC069777 mRNA Translation: AAH69777.1
CCDSiCCDS3296.1
RefSeqiNP_006571.1, NM_006580.3
UniGeneiHs.251391

Genome annotation databases

EnsembliENST00000264734; ENSP00000264734; ENSG00000113946
GeneIDi10686
KEGGihsa:10686
UCSCiuc003fsi.3 human

Similar proteinsi

Entry informationi

Entry nameiCLD16_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5I7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: September 12, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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