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Protein

Claudin-16

Gene

CLDN16

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
  • cellular metal ion homeostasis Source: ProtInc
  • excretion Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113946-MONOMER.
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

HGNCiHGNC:2037. CLDN16.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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 rs104893724dbSNPEnsembl.1
Natural variantiVAR_017228141H → D in HOMG3. 2 Publications1
Natural variantiVAR_017229145L → P in HOMG3. 2 PublicationsCorresponds to variant rs104893731dbSNPEnsembl.1
Natural variantiVAR_017230149R → L in HOMG3. 1 Publication1
Natural variantiVAR_017231151L → F in HOMG3. 2 PublicationsCorresponds to variant rs104893729dbSNPEnsembl.1
Natural variantiVAR_017232151L → P in HOMG3. 1 Publication1
Natural variantiVAR_017233151L → W in HOMG3. 2 PublicationsCorresponds to variant rs104893730dbSNPEnsembl.1
Natural variantiVAR_008174167L → P in HOMG3. 1 PublicationCorresponds to variant rs104893725dbSNPEnsembl.1
Natural variantiVAR_008175191G → R in HOMG3. 1 PublicationCorresponds to variant rs104893722dbSNPEnsembl.1
Natural variantiVAR_017234198G → A in HOMG3. 1 Publication1
Natural variantiVAR_008176198G → D in HOMG3. 2 PublicationsCorresponds to variant rs104893723dbSNPEnsembl.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 rs104893726dbSNPEnsembl.1
Natural variantiVAR_008178233G → D in HOMG3. 1 PublicationCorresponds to variant rs104893727dbSNPEnsembl.1
Natural variantiVAR_008179235S → F in HOMG3. 1 PublicationCorresponds to variant rs104893728dbSNPEnsembl.1
Natural variantiVAR_017237235S → P in HOMG3. 1 Publication1
Natural variantiVAR_008172239G → R in HOMG3. 3 PublicationsCorresponds to variant rs104893721dbSNPEnsembl.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.

PTM databases

iPTMnetiQ9Y5I7.
PhosphoSitePlusiQ9Y5I7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000113946.
CleanExiHS_CLDN16.
ExpressionAtlasiQ9Y5I7. baseline and differential.
GenevisibleiQ9Y5I7. HS.

Organism-specific databases

HPAiHPA056020.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Cldn14Q9Z0S33EBI-7774981,EBI-7774956From a different organism.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115925. 1 interactor.
DIPiDIP-48951N.
IntActiQ9Y5I7. 2 interactors.
MINTiMINT-8387823.
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.
OMAiYAVDTRV.
OrthoDBiEOG091G0MX2.
PhylomeDBiQ9Y5I7.
TreeFamiTF331936.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003927. Claudin16.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF56. PTHR12002:SF56. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01447. CLAUDIN16.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00817371M → R in HOMG3. 1 PublicationCorresponds to variant rs104893724dbSNPEnsembl.1
Natural variantiVAR_017228141H → D in HOMG3. 2 Publications1
Natural variantiVAR_017229145L → P in HOMG3. 2 PublicationsCorresponds to variant rs104893731dbSNPEnsembl.1
Natural variantiVAR_017230149R → L in HOMG3. 1 Publication1
Natural variantiVAR_017231151L → F in HOMG3. 2 PublicationsCorresponds to variant rs104893729dbSNPEnsembl.1
Natural variantiVAR_017232151L → P in HOMG3. 1 Publication1
Natural variantiVAR_017233151L → W in HOMG3. 2 PublicationsCorresponds to variant rs104893730dbSNPEnsembl.1
Natural variantiVAR_008174167L → P in HOMG3. 1 PublicationCorresponds to variant rs104893725dbSNPEnsembl.1
Natural variantiVAR_008175191G → R in HOMG3. 1 PublicationCorresponds to variant rs104893722dbSNPEnsembl.1
Natural variantiVAR_017234198G → A in HOMG3. 1 Publication1
Natural variantiVAR_008176198G → D in HOMG3. 2 PublicationsCorresponds to variant rs104893723dbSNPEnsembl.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 rs104893726dbSNPEnsembl.1
Natural variantiVAR_008178233G → D in HOMG3. 1 PublicationCorresponds to variant rs104893727dbSNPEnsembl.1
Natural variantiVAR_008179235S → F in HOMG3. 1 PublicationCorresponds to variant rs104893728dbSNPEnsembl.1
Natural variantiVAR_017237235S → P in HOMG3. 1 Publication1
Natural variantiVAR_008172239G → R in HOMG3. 3 PublicationsCorresponds to variant rs104893721dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9Y5I7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115925. 1 interactor.
DIPiDIP-48951N.
IntActiQ9Y5I7. 2 interactors.
MINTiMINT-8387823.
STRINGi9606.ENSP00000264734.

Protein family/group databases

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

PTM databases

iPTMnetiQ9Y5I7.
PhosphoSitePlusiQ9Y5I7.

Polymorphism and mutation databases

BioMutaiCLDN16.
DMDMi6685318.

Proteomic databases

PaxDbiQ9Y5I7.
PeptideAtlasiQ9Y5I7.
PRIDEiQ9Y5I7.

Protocols and materials databases

DNASUi10686.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10686.
DisGeNETi10686.
GeneCardsiCLDN16.
HGNCiHGNC:2037. CLDN16.
HPAiHPA056020.
MalaCardsiCLDN16.
MIMi248250. phenotype.
603959. gene.
neXtProtiNX_Q9Y5I7.
OpenTargetsiENSG00000113946.
Orphaneti31043. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement.
PharmGKBiPA26563.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113946-MONOMER.
ReactomeiR-HSA-420029. Tight junction interactions.

Miscellaneous databases

GeneWikiiCLDN16.
GenomeRNAii10686.
PROiQ9Y5I7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113946.
CleanExiHS_CLDN16.
ExpressionAtlasiQ9Y5I7. baseline and differential.
GenevisibleiQ9Y5I7. HS.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003927. Claudin16.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF56. PTHR12002:SF56. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01447. CLAUDIN16.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLD16_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5I7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 144 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.