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Protein

Claudin-19

Gene

CLDN19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Biological processSensory transduction, Vision
LigandMagnesium

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions

Protein family/group databases

TCDBi1.H.1.1.5 the claudin tight junction (claudin1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-19
Gene namesi
Name:CLDN19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000164007.10
HGNCiHGNC:2040 CLDN19
MIMi610036 gene
neXtProtiNX_Q8N6F1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 117CytoplasmicSequence analysisAdd BLAST15
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 160ExtracellularSequence analysisAdd BLAST22
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Topological domaini182 – 224CytoplasmicSequence analysisAdd BLAST43

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Hypomagnesemia 5, renal, with or without ocular involvement (HOMG5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:248190
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03123920G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar.1
Natural variantiVAR_03124057Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 PublicationCorresponds to variant dbSNP:rs118203980EnsemblClinVar.1
Natural variantiVAR_03124190L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary hypomagnesemia

Organism-specific databases

DisGeNETi149461
MalaCardsiCLDN19
MIMi248190 phenotype
OpenTargetsiENSG00000164007
Orphaneti2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
PharmGKBiPA26566

Polymorphism and mutation databases

BioMutaiCLDN19
DMDMi47606757

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447811 – 224Claudin-19Add BLAST224

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi54 ↔ 64By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ8N6F1
PeptideAtlasiQ8N6F1
PRIDEiQ8N6F1
ProteomicsDBi72162
72163 [Q8N6F1-2]

PTM databases

PhosphoSitePlusiQ8N6F1

Expressioni

Gene expression databases

BgeeiENSG00000164007 Expressed in 160 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_CLDN19
GenevisibleiQ8N6F1 HS

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi127213, 4 interactors
DIPiDIP-48953N
IntActiQ8N6F1, 59 interactors
MINTiQ8N6F1
STRINGi9606.ENSP00000296387

Structurei

3D structure databases

ProteinModelPortaliQ8N6F1
SMRiQ8N6F1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG5H Eukaryota
ENOG410Y143 LUCA
GeneTreeiENSGT00760000118928
HOGENOMiHOG000220937
HOVERGENiHBG000643
InParanoidiQ8N6F1
KOiK06087
OMAiARFEFGP
OrthoDBiEOG091G0MX2
PhylomeDBiQ8N6F1
TreeFamiTF331936

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
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)DescriptionActionsGraphical viewLength
Sequence conflicti46L → P in BAC04691 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q8N6F1-3)
Sequence conflicti186R → C in BAH12918 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03123813L → F. Corresponds to variant dbSNP:rs12065961EnsemblClinVar.1
Natural variantiVAR_03123920G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar.1
Natural variantiVAR_03124057Q → E in HOMG5; the mutant protein inserts correctly into the cell membrane although subsequent analyzes suggested that dimer formation was disrupted. 1 PublicationCorresponds to variant dbSNP:rs118203980EnsemblClinVar.1
Natural variantiVAR_03124190L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044839131 – 224LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_010342210 – 224PVVKL…GPLGV → YV in isoform 2. 2 PublicationsAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ8N6F1
SMRiQ8N6F1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127213, 4 interactors
DIPiDIP-48953N
IntActiQ8N6F1, 59 interactors
MINTiQ8N6F1
STRINGi9606.ENSP00000296387

Protein family/group databases

TCDBi1.H.1.1.5 the claudin tight junction (claudin1) family

PTM databases

PhosphoSitePlusiQ8N6F1

Polymorphism and mutation databases

BioMutaiCLDN19
DMDMi47606757

Proteomic databases

PaxDbiQ8N6F1
PeptideAtlasiQ8N6F1
PRIDEiQ8N6F1
ProteomicsDBi72162
72163 [Q8N6F1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi149461
DisGeNETi149461
EuPathDBiHostDB:ENSG00000164007.10
GeneCardsiCLDN19
HGNCiHGNC:2040 CLDN19
MalaCardsiCLDN19
MIMi248190 phenotype
610036 gene
neXtProtiNX_Q8N6F1
OpenTargetsiENSG00000164007
Orphaneti2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
PharmGKBiPA26566
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG5H Eukaryota
ENOG410Y143 LUCA
GeneTreeiENSGT00760000118928
HOGENOMiHOG000220937
HOVERGENiHBG000643
InParanoidiQ8N6F1
KOiK06087
OMAiARFEFGP
OrthoDBiEOG091G0MX2
PhylomeDBiQ8N6F1
TreeFamiTF331936

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions

Miscellaneous databases

GeneWikiiCLDN19
GenomeRNAii149461
PROiPR:Q8N6F1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164007 Expressed in 160 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_CLDN19
GenevisibleiQ8N6F1 HS

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCLD19_HUMAN
AccessioniPrimary (citable) accession number: Q8N6F1
Secondary accession number(s): B7Z5I2
, F5H5P9, Q5QT57, Q8N8X0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: May 24, 2004
Last modified: November 7, 2018
This is version 148 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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