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Q8N6F1 (CLD19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin-19
Gene names
Name:CLDN19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length224 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 By similarity.

Subcellular location

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the claudin family.

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Cellular componentCell junction
Cell membrane
Membrane
Tight junction
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Primary hypomagnesemia
   DomainTransmembrane
Transmembrane helix
   LigandMagnesium
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapical junction assembly

Inferred from electronic annotation. Source: Ensembl

calcium-independent cell-cell adhesion

Inferred from sequence or structural similarity. Source: UniProtKB

neuronal action potential propagation

Inferred from electronic annotation. Source: Ensembl

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentapical junction complex

Inferred from direct assay PubMed 16427635. Source: MGI

basolateral plasma membrane

Inferred from direct assay PubMed 16427635. Source: MGI

cytoplasm

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from electronic annotation. Source: Ensembl

tight junction

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionidentical protein binding

Inferred from sequence or structural similarity. Source: UniProtKB

structural molecule activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N6F1-1)

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.
Isoform 2 (identifier: Q8N6F1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     210-224: PVVKLPASAKGPLGV → YV
Isoform 3 (identifier: Q8N6F1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     131-224: LCTLTAVSWY...PASAKGPLGV → MNLAQPCSWA...GQGHWGIGWA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 224224Claudin-19
PRO_0000144781

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Potential
Topological domain29 – 8153Extracellular Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 11715Cytoplasmic Potential
Transmembrane118 – 13821Helical; Potential
Topological domain139 – 16022Extracellular Potential
Transmembrane161 – 18121Helical; Potential
Topological domain182 – 22443Cytoplasmic Potential

Natural variations

Alternative sequence131 – 22494LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3.
VSP_044839
Alternative sequence210 – 22415PVVKL…GPLGV → YV in isoform 2.
VSP_010342
Natural variant131L → F.
Corresponds to variant rs12065961 [ dbSNP | Ensembl ].
VAR_031238
Natural variant201G → D in HOMG5; perinuclear retention of the mutant protein. Ref.6
VAR_031239
Natural variant571Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. Ref.6
VAR_031240
Natural variant901L → P in HOMG5. Ref.6
VAR_031241

Experimental info

Sequence conflict461L → P in BAC04691. Ref.2
Isoform 3:
Sequence conflict1861R → C in BAH12918. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 24, 2004. Version 2.
Checksum: 60E1A21902415219

FASTA22423,229
        10         20         30         40         50         60 
MANSGLQLLG YFLALGGWVG IIASTALPQW KQSSYAGDAI ITAVGLYEGL WMSCASQSTG 

        70         80         90        100        110        120 
QVQCKLYDSL LALDGHIQSA RALMVVAVLL GFVAMVLSVV GMKCTRVGDS NPIAKGRVAI 

       130        140        150        160        170        180 
AGGALFILAG LCTLTAVSWY ATLVTQEFFN PSTPVNARYE FGPALFVGWA SAGLAVLGGS 

       190        200        210        220 
FLCCTCPEPE RPNSSPQPYR PGPSAAAREP VVKLPASAKG PLGV 

« Hide

Isoform 2 [UniParc].

Checksum: 8AE4544AA1CE6462
Show »

FASTA21122,077
Isoform 3 [UniParc].

Checksum: D87396823B61D780
Show »

FASTA21822,721

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement."
Konrad M., Schaller A., Seelow D., Pandey A.V., Waldegger S., Lesslauer A., Vitzthum H., Suzuki Y., Luk J.M., Becker C., Schlingmann K.P., Schmid M., Rodriguez-Soriano J., Ariceta G., Cano F., Enriquez R., Jueppner H., Bakkaloglu S.A. expand/collapse author list , Hediger M.A., Gallati S., Neuhauss S.C.F., Nuernberg P., Weber S.
Am. J. Hum. Genet. 79:949-957(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HOMG5 ASP-20; GLU-57 AND PRO-90.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001116867.1. NM_001123395.1.
NP_001172046.1. NM_001185117.1.
NP_683763.2. NM_148960.2.
UniGeneHs.496270.

3D structure databases

ProteinModelPortalQ8N6F1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127213. 1 interaction.
DIPDIP-48953N.
IntActQ8N6F1. 3 interactions.
MINTMINT-3040559.
STRING9606.ENSP00000296387.

Protein family/group databases

TCDB1.H.1.1.5. the claudin tight junction (claudin) family.

PTM databases

PhosphoSiteQ8N6F1.

Polymorphism databases

DMDM47606757.

Proteomic databases

PaxDbQ8N6F1.
PRIDEQ8N6F1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296387; ENSP00000296387; ENSG00000164007. [Q8N6F1-1]
ENST00000372539; ENSP00000361617; ENSG00000164007. [Q8N6F1-2]
ENST00000539749; ENSP00000443229; ENSG00000164007. [Q8N6F1-3]
GeneID149461.
KEGGhsa:149461.
UCSCuc001cht.1. human. [Q8N6F1-1]
uc001chu.2. human. [Q8N6F1-2]

Organism-specific databases

CTD149461.
GeneCardsGC01M043174.
HGNCHGNC:2040. CLDN19.
MIM248190. phenotype.
610036. gene.
neXtProtNX_Q8N6F1.
Orphanet2196. Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement.
PharmGKBPA26566.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40074.
HOGENOMHOG000220937.
HOVERGENHBG000643.
InParanoidQ8N6F1.
KOK06087.
OMALDVHIQT.
OrthoDBEOG76HQ2T.
PhylomeDBQ8N6F1.
TreeFamTF331936.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

BgeeQ8N6F1.
CleanExHS_CLDN19.
GenevestigatorQ8N6F1.

Family and domain databases

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

Other

GeneWikiCLDN19.
GenomeRNAi149461.
NextBio86156.
PROQ8N6F1.
SOURCESearch...

Entry information

Entry nameCLD19_HUMAN
AccessionPrimary (citable) accession number: Q8N6F1
Secondary accession number(s): B7Z5I2 expand/collapse secondary AC list , F5H5P9, Q5QT57, Q8N8X0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: May 24, 2004
Last modified: April 16, 2014
This is version 113 of the entry and version 2 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 1

Human chromosome 1: entries, gene names and cross-references to MIM