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Q9Y5I7 (CLD16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin-16
Alternative name(s):
Paracellin-1
Short name=PCLN-1
Gene names
Name:CLDN16
Synonyms:PCLN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length305 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell junctiontight junction. Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.4

Sequence similarities

Belongs to the claudin family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Cldn14Q9Z0S33EBI-7774981,EBI-7774956From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 305305Claudin-16
PRO_0000144774

Regions

Topological domain1 – 7373Cytoplasmic Potential
Transmembrane74 – 9421Helical; Potential
Topological domain95 – 15056Extracellular Potential
Transmembrane151 – 17121Helical; Potential
Topological domain172 – 18514Cytoplasmic Potential
Transmembrane186 – 20621Helical; Potential
Topological domain207 – 23933Extracellular Potential
Transmembrane240 – 26021Helical; Potential
Topological domain261 – 30545Cytoplasmic Potential

Natural variations

Natural variant711M → R in HOMG3. Ref.1
VAR_008173
Natural variant1411H → D in HOMG3. Ref.3 Ref.4
VAR_017228
Natural variant1451L → P in HOMG3. Ref.3 Ref.4
VAR_017229
Natural variant1491R → L in HOMG3. Ref.4
VAR_017230
Natural variant1511L → F in HOMG3. Ref.3 Ref.4
VAR_017231
Natural variant1511L → P in HOMG3. Ref.3
VAR_017232
Natural variant1511L → W in HOMG3. Ref.3 Ref.4
VAR_017233
Natural variant1671L → P in HOMG3. Ref.1
VAR_008174
Natural variant1911G → R in HOMG3. Ref.1
VAR_008175
Natural variant1981G → A in HOMG3. Ref.4
VAR_017234
Natural variant1981G → D in HOMG3. Ref.1 Ref.3
VAR_008176
Natural variant2091A → T in HOMG3. Ref.4
VAR_017235
Natural variant2161R → T in HOMG3. Ref.4
VAR_017236
Natural variant2321F → C in HOMG3. Ref.1
VAR_008177
Natural variant2331G → D in HOMG3. Ref.1
VAR_008178
Natural variant2351S → F in HOMG3. Ref.1
VAR_008179
Natural variant2351S → P in HOMG3. Ref.4
VAR_017237
Natural variant2391G → R in HOMG3. Ref.1 Ref.3 Ref.4
VAR_008172

Sequences

Sequence LengthMass (Da)Tools
Q9Y5I7 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 2A85A19A39727329

FASTA30533,836
        10         20         30         40         50         60 
MTSRTPLLVT ACLYYSYCNS RHLQQGVRKS KRPVFSHCQV PETQKTDTRH LSGARAGVCP 

        70         80         90        100        110        120 
CCHPDGLLAT MRDLLQYIAC FFAFFSAGFL IVATWTDCWM VNADDSLEVS TKCRGLWWEC 

       130        140        150        160        170        180 
VTNAFDGIRT CDEYDSILAE HPLKLVVTRA LMITADILAG FGFLTLLLGL DCVKFLPDEP 

       190        200        210        220        230        240 
YIKVRICFVA GATLLIAGTP GIIGSVWYAV DVYVERSTLV LHNIFLGIQY KFGWSCWLGM 

       250        260        270        280        290        300 
AGSLGCFLAG AVLTCCLYLF KDVGPERNYP YSLRKAYSAA GVSMAKSYSA PRTETAKMYA 


VDTRV 

« Hide

References

« Hide 'large scale' references
[1]"Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption."
Simon D.B., Lu Y., Choate K.A., Velazquez H., Al-Sabban E., Praga M., Casari G., Bettinelli A., Colussi G., Rodriguez-Soriano J., McCredie D., Milford D., Sanjad S., Lifton R.P.
Science 285:103-106(1999) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3296.1.
RefSeqNP_006571.1. NM_006580.3.
UniGeneHs.251391.

3D structure databases

ProteinModelPortalQ9Y5I7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115925. 1 interaction.
DIPDIP-48951N.
IntActQ9Y5I7. 2 interactions.
MINTMINT-8387823.
STRING9606.ENSP00000264734.

Protein family/group databases

TCDB1.H.1.1.1. the claudin tight junction (claudin) family.

PTM databases

PhosphoSiteQ9Y5I7.

Polymorphism databases

DMDM6685318.

Proteomic databases

PaxDbQ9Y5I7.
PRIDEQ9Y5I7.

Protocols and materials databases

DNASU10686.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264734; ENSP00000264734; ENSG00000113946.
GeneID10686.
KEGGhsa:10686.
UCSCuc003fsi.3. human.

Organism-specific databases

CTD10686.
GeneCardsGC03P190040.
HGNCHGNC:2037. CLDN16.
HPAHPA018040.
MIM248250. phenotype.
603959. gene.
neXtProtNX_Q9Y5I7.
Orphanet31043. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement.
PharmGKBPA26563.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG38970.
HOGENOMHOG000111787.
HOVERGENHBG050987.
InParanoidQ9Y5I7.
KOK06087.
OMAYAVDTRV.
OrthoDBEOG76HQ2T.
PhylomeDBQ9Y5I7.
TreeFamTF331936.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

ArrayExpressQ9Y5I7.
BgeeQ9Y5I7.
CleanExHS_CLDN16.
GenevestigatorQ9Y5I7.

Family and domain databases

InterProIPR006187. Claudin.
IPR003927. Claudin16.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF56. PTHR12002:SF56. 1 hit.
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01077. CLAUDIN.
PR01447. CLAUDIN16.
PROSITEPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCLDN16.
GenomeRNAi10686.
NextBio40621.
PROQ9Y5I7.
SOURCESearch...

Entry information

Entry nameCLD16_HUMAN
AccessionPrimary (citable) accession number: Q9Y5I7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM