Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9Y5I7

- CLD16_HUMAN

UniProt

Q9Y5I7 - CLD16_HUMAN

Protein

Claudin-16

Gene

CLDN16

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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. protein binding Source: IntAct
    4. structural molecule activity Source: InterPro

    GO - Biological processi

    1. calcium-independent cell-cell adhesion Source: UniProtKB
    2. cellular metal ion homeostasis Source: ProtInc
    3. excretion Source: ProtInc
    4. magnesium ion transport Source: GOC

    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

    GO - Cellular componenti

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

    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

    ArrayExpressiQ9Y5I7.
    BgeeiQ9Y5I7.
    CleanExiHS_CLDN16.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7373CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini95 – 15056ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini172 – 18514CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini207 – 23933ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini261 – 30545CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei74 – 9421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei151 – 17121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei240 – 26021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the claudin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG38970.
    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

    MTSRTPLLVT ACLYYSYCNS RHLQQGVRKS KRPVFSHCQV PETQKTDTRH    50
    LSGARAGVCP CCHPDGLLAT MRDLLQYIAC FFAFFSAGFL IVATWTDCWM 100
    VNADDSLEVS TKCRGLWWEC VTNAFDGIRT CDEYDSILAE HPLKLVVTRA 150
    LMITADILAG FGFLTLLLGL DCVKFLPDEP YIKVRICFVA GATLLIAGTP 200
    GIIGSVWYAV DVYVERSTLV LHNIFLGIQY KFGWSCWLGM AGSLGCFLAG 250
    AVLTCCLYLF KDVGPERNYP YSLRKAYSAA GVSMAKSYSA PRTETAKMYA 300
    VDTRV 305
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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.
    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

    ArrayExpressi Q9Y5I7.
    Bgeei Q9Y5I7.
    CleanExi HS_CLDN16.
    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

    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 1, 2014
    This is version 127 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