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Q8N6F1

- CLD19_HUMAN

UniProt

Q8N6F1 - CLD19_HUMAN

Protein

Claudin-19

Gene

CLDN19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (24 May 2004)
      Previous versions | rss
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    Functioni

    Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.By similarity

    GO - Molecular functioni

    1. identical protein binding Source: UniProtKB
    2. structural molecule activity Source: Ensembl

    GO - Biological processi

    1. apical junction assembly Source: Ensembl
    2. calcium-independent cell-cell adhesion Source: UniProtKB
    3. neuronal action potential propagation Source: Ensembl
    4. response to stimulus Source: UniProtKB-KW
    5. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Magnesium

    Enzyme and pathway databases

    ReactomeiREACT_19373. Tight junction interactions.

    Protein family/group databases

    TCDBi1.H.1.1.5. the claudin tight junction (claudin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Claudin-19
    Gene namesi
    Name:CLDN19
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2040. CLDN19.

    Subcellular locationi

    GO - Cellular componenti

    1. apical junction complex Source: MGI
    2. basolateral plasma membrane Source: MGI
    3. cytoplasm Source: Ensembl
    4. integral component of membrane Source: UniProtKB-KW
    5. nucleus Source: Ensembl
    6. tight junction Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    Hypomagnesemia 5 (HOMG5) [MIM:248190]: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201G → D in HOMG5; perinuclear retention of the mutant protein. 1 Publication
    VAR_031239
    Natural varianti57 – 571Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 Publication
    VAR_031240
    Natural varianti90 – 901L → P in HOMG5. 1 Publication
    VAR_031241

    Keywords - Diseasei

    Disease mutation, Primary hypomagnesemia

    Organism-specific databases

    MIMi248190. phenotype.
    Orphaneti2196. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement.
    PharmGKBiPA26566.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 224224Claudin-19PRO_0000144781Add
    BLAST

    Proteomic databases

    PaxDbiQ8N6F1.
    PRIDEiQ8N6F1.

    PTM databases

    PhosphoSiteiQ8N6F1.

    Expressioni

    Gene expression databases

    BgeeiQ8N6F1.
    CleanExiHS_CLDN19.
    GenevestigatoriQ8N6F1.

    Interactioni

    Protein-protein interaction databases

    BioGridi127213. 1 interaction.
    DIPiDIP-48953N.
    IntActiQ8N6F1. 3 interactions.
    MINTiMINT-3040559.
    STRINGi9606.ENSP00000296387.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N6F1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 8153ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini103 – 11715CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini139 – 16022ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini182 – 22443CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei118 – 13821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the claudin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40074.
    HOGENOMiHOG000220937.
    HOVERGENiHBG000643.
    InParanoidiQ8N6F1.
    KOiK06087.
    OMAiLDVHIQT.
    OrthoDBiEOG76HQ2T.
    PhylomeDBiQ8N6F1.
    TreeFamiTF331936.

    Family and domain databases

    InterProiIPR006187. Claudin.
    IPR017974. Claudin_CS.
    IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view]
    PANTHERiPTHR12002. PTHR12002. 1 hit.
    PfamiPF00822. PMP22_Claudin. 1 hit.
    [Graphical view]
    PRINTSiPR01077. CLAUDIN.
    PROSITEiPS01346. CLAUDIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N6F1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MANSGLQLLG YFLALGGWVG IIASTALPQW KQSSYAGDAI ITAVGLYEGL    50
    WMSCASQSTG QVQCKLYDSL LALDGHIQSA RALMVVAVLL GFVAMVLSVV 100
    GMKCTRVGDS NPIAKGRVAI AGGALFILAG LCTLTAVSWY ATLVTQEFFN 150
    PSTPVNARYE FGPALFVGWA SAGLAVLGGS FLCCTCPEPE RPNSSPQPYR 200
    PGPSAAAREP VVKLPASAKG PLGV 224
    Length:224
    Mass (Da):23,229
    Last modified:May 24, 2004 - v2
    Checksum:i60E1A21902415219
    GO
    Isoform 2 (identifier: Q8N6F1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         210-224: PVVKLPASAKGPLGV → YV

    Show »
    Length:211
    Mass (Da):22,077
    Checksum:i8AE4544AA1CE6462
    GO
    Isoform 3 (identifier: Q8N6F1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         131-224: LCTLTAVSWY...PASAKGPLGV → MNLAQPCSWA...GQGHWGIGWA

    Note: No experimental confirmation available.Curated

    Show »
    Length:218
    Mass (Da):22,721
    Checksum:iD87396823B61D780
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 461L → P in BAC04691. (PubMed:14702039)Curated
    Isoform 3 (identifier: Q8N6F1-3)
    Sequence conflicti186 – 1861R → C in BAH12918. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131L → F.
    Corresponds to variant rs12065961 [ dbSNP | Ensembl ].
    VAR_031238
    Natural varianti20 – 201G → D in HOMG5; perinuclear retention of the mutant protein. 1 Publication
    VAR_031239
    Natural varianti57 – 571Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 Publication
    VAR_031240
    Natural varianti90 – 901L → P in HOMG5. 1 Publication
    VAR_031241

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei131 – 22494LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3. 1 PublicationVSP_044839Add
    BLAST
    Alternative sequencei210 – 22415PVVKL…GPLGV → YV in isoform 2. 2 PublicationsVSP_010342Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF497644 mRNA. Translation: AAQ07256.1.
    AK096063 mRNA. Translation: BAC04691.1.
    AK298992 mRNA. Translation: BAH12918.1.
    AC098484 Genomic DNA. No translation available.
    CH471059 Genomic DNA. Translation: EAX07147.1.
    BC030524 mRNA. Translation: AAH30524.1.
    CCDSiCCDS44125.1. [Q8N6F1-2]
    CCDS471.1. [Q8N6F1-1]
    CCDS53306.1. [Q8N6F1-3]
    RefSeqiNP_001116867.1. NM_001123395.1. [Q8N6F1-2]
    NP_001172046.1. NM_001185117.1. [Q8N6F1-3]
    NP_683763.2. NM_148960.2. [Q8N6F1-1]
    UniGeneiHs.496270.

    Genome annotation databases

    EnsembliENST00000296387; ENSP00000296387; ENSG00000164007. [Q8N6F1-1]
    ENST00000372539; ENSP00000361617; ENSG00000164007. [Q8N6F1-2]
    ENST00000539749; ENSP00000443229; ENSG00000164007. [Q8N6F1-3]
    GeneIDi149461.
    KEGGihsa:149461.
    UCSCiuc001cht.1. human. [Q8N6F1-1]
    uc001chu.2. human. [Q8N6F1-2]

    Polymorphism databases

    DMDMi47606757.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF497644 mRNA. Translation: AAQ07256.1 .
    AK096063 mRNA. Translation: BAC04691.1 .
    AK298992 mRNA. Translation: BAH12918.1 .
    AC098484 Genomic DNA. No translation available.
    CH471059 Genomic DNA. Translation: EAX07147.1 .
    BC030524 mRNA. Translation: AAH30524.1 .
    CCDSi CCDS44125.1. [Q8N6F1-2 ]
    CCDS471.1. [Q8N6F1-1 ]
    CCDS53306.1. [Q8N6F1-3 ]
    RefSeqi NP_001116867.1. NM_001123395.1. [Q8N6F1-2 ]
    NP_001172046.1. NM_001185117.1. [Q8N6F1-3 ]
    NP_683763.2. NM_148960.2. [Q8N6F1-1 ]
    UniGenei Hs.496270.

    3D structure databases

    ProteinModelPortali Q8N6F1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127213. 1 interaction.
    DIPi DIP-48953N.
    IntActi Q8N6F1. 3 interactions.
    MINTi MINT-3040559.
    STRINGi 9606.ENSP00000296387.

    Protein family/group databases

    TCDBi 1.H.1.1.5. the claudin tight junction (claudin) family.

    PTM databases

    PhosphoSitei Q8N6F1.

    Polymorphism databases

    DMDMi 47606757.

    Proteomic databases

    PaxDbi Q8N6F1.
    PRIDEi Q8N6F1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296387 ; ENSP00000296387 ; ENSG00000164007 . [Q8N6F1-1 ]
    ENST00000372539 ; ENSP00000361617 ; ENSG00000164007 . [Q8N6F1-2 ]
    ENST00000539749 ; ENSP00000443229 ; ENSG00000164007 . [Q8N6F1-3 ]
    GeneIDi 149461.
    KEGGi hsa:149461.
    UCSCi uc001cht.1. human. [Q8N6F1-1 ]
    uc001chu.2. human. [Q8N6F1-2 ]

    Organism-specific databases

    CTDi 149461.
    GeneCardsi GC01M043174.
    HGNCi HGNC:2040. CLDN19.
    MIMi 248190. phenotype.
    610036. gene.
    neXtProti NX_Q8N6F1.
    Orphaneti 2196. Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement.
    PharmGKBi PA26566.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40074.
    HOGENOMi HOG000220937.
    HOVERGENi HBG000643.
    InParanoidi Q8N6F1.
    KOi K06087.
    OMAi LDVHIQT.
    OrthoDBi EOG76HQ2T.
    PhylomeDBi Q8N6F1.
    TreeFami TF331936.

    Enzyme and pathway databases

    Reactomei REACT_19373. Tight junction interactions.

    Miscellaneous databases

    GeneWikii CLDN19.
    GenomeRNAii 149461.
    NextBioi 86156.
    PROi Q8N6F1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8N6F1.
    CleanExi HS_CLDN19.
    Genevestigatori Q8N6F1.

    Family and domain databases

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

    Publicationsi

    1. "Human claudin-19."
      Morita K.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
      Tissue: Kidney.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Lung and Spleen.
    6. Cited for: VARIANTS HOMG5 ASP-20; GLU-57 AND PRO-90.

    Entry informationi

    Entry nameiCLD19_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6F1
    Secondary accession number(s): B7Z5I2
    , F5H5P9, Q5QT57, Q8N8X0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 17, 2003
    Last sequence update: May 24, 2004
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 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 1
      Human chromosome 1: 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