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Q9Y5I7

- CLD16_HUMAN

UniProt

Q9Y5I7 - CLD16_HUMAN

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Protein

Claudin-16

Gene

CLDN16

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. identical protein binding Source: UniProtKB
  2. magnesium ion transmembrane transporter activity Source: ProtInc
  3. structural molecule activity Source: InterPro

GO - Biological processi

  1. calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
  2. cellular metal ion homeostasis Source: ProtInc
  3. excretion Source: ProtInc
  4. magnesium ion transport Source: GOC
Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

ReactomeiREACT_19373. Tight junction interactions.

Protein family/group databases

TCDBi1.H.1.1.1. the claudin tight junction (claudin) 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:2037. CLDN16.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7373CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei74 – 9421HelicalSequence AnalysisAdd
BLAST
Topological domaini95 – 15056ExtracellularSequence AnalysisAdd
BLAST
Transmembranei151 – 17121HelicalSequence AnalysisAdd
BLAST
Topological domaini172 – 18514CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei186 – 20621HelicalSequence AnalysisAdd
BLAST
Topological domaini207 – 23933ExtracellularSequence AnalysisAdd
BLAST
Transmembranei240 – 26021HelicalSequence AnalysisAdd
BLAST
Topological domaini261 – 30545CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
  3. tight junction Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Hypomagnesemia 3 (HOMG3) [MIM:248250]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711M → R in HOMG3. 1 Publication
VAR_008173
Natural varianti141 – 1411H → D in HOMG3. 2 Publications
VAR_017228
Natural varianti145 – 1451L → P in HOMG3. 2 Publications
VAR_017229
Natural varianti149 – 1491R → L in HOMG3. 1 Publication
VAR_017230
Natural varianti151 – 1511L → F in HOMG3. 2 Publications
VAR_017231
Natural varianti151 – 1511L → P in HOMG3. 1 Publication
VAR_017232
Natural varianti151 – 1511L → W in HOMG3. 2 Publications
VAR_017233
Natural varianti167 – 1671L → P in HOMG3. 1 Publication
VAR_008174
Natural varianti191 – 1911G → R in HOMG3. 1 Publication
VAR_008175
Natural varianti198 – 1981G → A in HOMG3. 1 Publication
VAR_017234
Natural varianti198 – 1981G → D in HOMG3. 2 Publications
VAR_008176
Natural varianti209 – 2091A → T in HOMG3. 1 Publication
VAR_017235
Natural varianti216 – 2161R → T in HOMG3. 1 Publication
VAR_017236
Natural varianti232 – 2321F → C in HOMG3. 1 Publication
VAR_008177
Natural varianti233 – 2331G → D in HOMG3. 1 Publication
VAR_008178
Natural varianti235 – 2351S → F in HOMG3. 1 Publication
VAR_008179
Natural varianti235 – 2351S → P in HOMG3. 1 Publication
VAR_017237
Natural varianti239 – 2391G → R in HOMG3. 3 Publications
VAR_008172

Keywords - Diseasei

Disease mutation, Primary hypomagnesemia

Organism-specific databases

MIMi248250. phenotype.
Orphaneti31043. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement.
PharmGKBiPA26563.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 305305Claudin-16PRO_0000144774Add
BLAST

Proteomic databases

PaxDbiQ9Y5I7.
PRIDEiQ9Y5I7.

PTM databases

PhosphoSiteiQ9Y5I7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9Y5I7.
CleanExiHS_CLDN16.
ExpressionAtlasiQ9Y5I7. baseline and differential.
GenevestigatoriQ9Y5I7.

Organism-specific databases

HPAiHPA018040.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi115925. 1 interaction.
DIPiDIP-48951N.
IntActiQ9Y5I7. 2 interactions.
MINTiMINT-8387823.
STRINGi9606.ENSP00000264734.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5I7.
SMRiQ9Y5I7. Positions 107-250.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG38970.
GeneTreeiENSGT00730000111162.
HOGENOMiHOG000111787.
HOVERGENiHBG050987.
InParanoidiQ9Y5I7.
KOiK06087.
OMAiYAVDTRV.
OrthoDBiEOG76HQ2T.
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]
PRINTSiPR01077. CLAUDIN.
PR01447. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711M → R in HOMG3. 1 Publication
VAR_008173
Natural varianti141 – 1411H → D in HOMG3. 2 Publications
VAR_017228
Natural varianti145 – 1451L → P in HOMG3. 2 Publications
VAR_017229
Natural varianti149 – 1491R → L in HOMG3. 1 Publication
VAR_017230
Natural varianti151 – 1511L → F in HOMG3. 2 Publications
VAR_017231
Natural varianti151 – 1511L → P in HOMG3. 1 Publication
VAR_017232
Natural varianti151 – 1511L → W in HOMG3. 2 Publications
VAR_017233
Natural varianti167 – 1671L → P in HOMG3. 1 Publication
VAR_008174
Natural varianti191 – 1911G → R in HOMG3. 1 Publication
VAR_008175
Natural varianti198 – 1981G → A in HOMG3. 1 Publication
VAR_017234
Natural varianti198 – 1981G → D in HOMG3. 2 Publications
VAR_008176
Natural varianti209 – 2091A → T in HOMG3. 1 Publication
VAR_017235
Natural varianti216 – 2161R → T in HOMG3. 1 Publication
VAR_017236
Natural varianti232 – 2321F → C in HOMG3. 1 Publication
VAR_008177
Natural varianti233 – 2331G → D in HOMG3. 1 Publication
VAR_008178
Natural varianti235 – 2351S → F in HOMG3. 1 Publication
VAR_008179
Natural varianti235 – 2351S → P in HOMG3. 1 Publication
VAR_017237
Natural varianti239 – 2391G → R in HOMG3. 3 Publications
VAR_008172

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.

Polymorphism databases

DMDMi6685318.

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 .
CCDSi CCDS3296.1.
RefSeqi NP_006571.1. NM_006580.3.
UniGenei Hs.251391.

3D structure databases

ProteinModelPortali Q9Y5I7.
SMRi Q9Y5I7. Positions 107-250.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115925. 1 interaction.
DIPi DIP-48951N.
IntActi Q9Y5I7. 2 interactions.
MINTi MINT-8387823.
STRINGi 9606.ENSP00000264734.

Protein family/group databases

TCDBi 1.H.1.1.1. the claudin tight junction (claudin) family.

PTM databases

PhosphoSitei Q9Y5I7.

Polymorphism databases

DMDMi 6685318.

Proteomic databases

PaxDbi Q9Y5I7.
PRIDEi Q9Y5I7.

Protocols and materials databases

DNASUi 10686.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264734 ; ENSP00000264734 ; ENSG00000113946 .
GeneIDi 10686.
KEGGi hsa:10686.
UCSCi uc003fsi.3. human.

Organism-specific databases

CTDi 10686.
GeneCardsi GC03P190040.
HGNCi HGNC:2037. CLDN16.
HPAi HPA018040.
MIMi 248250. phenotype.
603959. gene.
neXtProti NX_Q9Y5I7.
Orphaneti 31043. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement.
PharmGKBi PA26563.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG38970.
GeneTreei ENSGT00730000111162.
HOGENOMi HOG000111787.
HOVERGENi HBG050987.
InParanoidi Q9Y5I7.
KOi K06087.
OMAi YAVDTRV.
OrthoDBi EOG76HQ2T.
PhylomeDBi Q9Y5I7.
TreeFami TF331936.

Enzyme and pathway databases

Reactomei REACT_19373. Tight junction interactions.

Miscellaneous databases

GeneWikii CLDN16.
GenomeRNAii 10686.
NextBioi 40621.
PROi Q9Y5I7.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5I7.
CleanExi HS_CLDN16.
ExpressionAtlasi Q9Y5I7. baseline and differential.
Genevestigatori Q9Y5I7.

Family and domain databases

InterProi IPR006187. Claudin.
IPR003927. Claudin16.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view ]
PANTHERi PTHR12002. PTHR12002. 1 hit.
PTHR12002:SF56. PTHR12002:SF56. 1 hit.
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01077. CLAUDIN.
PR01447. CLAUDIN16.
PROSITEi PS01346. CLAUDIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS HOMG3 ARG-71; PRO-167; ARG-191; ASP-198; CYS-232; ASP-233; PHE-235 AND ARG-239.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene."
    Weber S., Hoffmann K., Jeck N., Saar K., Boeswald M., Kuwertz-Broeking E., Meij I.I., Knoers N.V., Cochat P., Sulakova T., Bonzel K.E., Soergel M., Manz F., Schaerer K., Seyberth H.W., Reis A., Konrad M.
    Eur. J. Hum. Genet. 8:414-422(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HOMG3 ASP-141; PRO-145; PHE-151; PRO-151; TRP-151; ASP-198 AND ARG-239.
  4. "Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis."
    Weber S., Schneider L., Peters M., Misselwitz J., Roennefarth G., Boeswald M., Bonzel K.E., Seeman T., Sulakova T., Kuwertz-Broeking E., Gregoric A., Palcoux J.-B., Tasic V., Manz F., Schaerer K., Seyberth H.W., Konrad M.
    J. Am. Soc. Nephrol. 12:1872-1881(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HOMG3 ASP-141; PRO-145; LEU-149; PHE-151; TRP-151; ALA-198; THR-209; THR-216; PRO-235 AND ARG-239.

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: October 29, 2014
This is version 128 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

External Data

Dasty 3