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Q8N6F1

- CLD19_HUMAN

UniProt

Q8N6F1 - CLD19_HUMAN

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Protein

Claudin-19

Gene

CLDN19

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.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
Complete GO annotation...

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
Complete GO annotation...

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.
SMRiQ8N6F1. Positions 46-179.
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.
GeneTreeiENSGT00760000118928.
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

        10         20         30         40         50
MANSGLQLLG YFLALGGWVG IIASTALPQW KQSSYAGDAI ITAVGLYEGL
60 70 80 90 100
WMSCASQSTG QVQCKLYDSL LALDGHIQSA RALMVVAVLL GFVAMVLSVV
110 120 130 140 150
GMKCTRVGDS NPIAKGRVAI AGGALFILAG LCTLTAVSWY ATLVTQEFFN
160 170 180 190 200
PSTPVNARYE FGPALFVGWA SAGLAVLGGS FLCCTCPEPE RPNSSPQPYR
210 220
PGPSAAAREP VVKLPASAKG PLGV
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.
SMRi Q8N6F1. Positions 46-179.
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.
GeneTreei ENSGT00760000118928.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 119 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