UniProtKB - Q8N6F1 (CLD19_HUMAN)
Protein
Claudin-19
Gene
CLDN19
Organism
Homo sapiens (Human)
Status
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
- identical protein binding Source: UniProtKB
- structural molecule activity Source: InterPro
GO - Biological processi
- actin cytoskeleton reorganization Source: ARUK-UCL
- apical junction assembly Source: Ensembl
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
- negative regulation of cell migration Source: ARUK-UCL
- negative regulation of cell population proliferation Source: ARUK-UCL
- negative regulation of gene expression Source: ARUK-UCL
- negative regulation of wound healing Source: ARUK-UCL
- neuronal action potential propagation Source: Ensembl
- positive regulation of cell junction assembly Source: ARUK-UCL
- positive regulation of gene expression Source: ARUK-UCL
- positive regulation of protein phosphorylation Source: ARUK-UCL
- regulation of transepithelial transport Source: ARUK-UCL
- response to stimulus Source: UniProtKB-KW
- tight junction organization Source: Ensembl
- visual perception Source: UniProtKB-KW
Keywordsi
Biological process | Sensory transduction, Vision |
Ligand | Magnesium |
Enzyme and pathway databases
Reactomei | R-HSA-420029 Tight junction interactions |
Protein family/group databases
TCDBi | 1.H.1.1.5 the claudin tight junction (claudin1) family |
Names & Taxonomyi
Protein namesi | Recommended name: Claudin-19 |
Gene namesi | Name:CLDN19 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2040 CLDN19 |
MIMi | 610036 gene |
neXtProti | NX_Q8N6F1 |
Subcellular locationi
Plasma membrane
Other locations
Nucleus
- nucleus Source: Ensembl
Plasma Membrane
- basolateral plasma membrane Source: MGI
Other locations
- apical junction complex Source: MGI
- bicellular tight junction Source: MGI
- integral component of membrane Source: UniProtKB-KW
- perinuclear region of cytoplasm Source: ARUK-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 81 | ExtracellularSequence analysisAdd BLAST | 53 | |
Transmembranei | 82 – 102 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 103 – 117 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 118 – 138 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 139 – 160 | ExtracellularSequence analysisAdd BLAST | 22 | |
Transmembranei | 161 – 181 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 182 – 224 | CytoplasmicSequence analysisAdd BLAST | 43 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Tight junctionPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031239 | 20 | G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar. | 1 | |
Natural variantiVAR_031240 | 57 | Q → 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_031241 | 90 | L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary hypomagnesemiaOrganism-specific databases
DisGeNETi | 149461 |
MalaCardsi | CLDN19 |
MIMi | 248190 phenotype |
OpenTargetsi | ENSG00000164007 |
Orphaneti | 2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
PharmGKBi | PA26566 |
Miscellaneous databases
Pharosi | Q8N6F1 |
Polymorphism and mutation databases
BioMutai | CLDN19 |
DMDMi | 47606757 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144781 | 1 – 224 | Claudin-19Add BLAST | 224 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 54 ↔ 64 | By similarity |
Keywords - PTMi
Disulfide bondProteomic databases
MassIVEi | Q8N6F1 |
PaxDbi | Q8N6F1 |
PeptideAtlasi | Q8N6F1 |
PRIDEi | Q8N6F1 |
ProteomicsDBi | 26945 72162 [Q8N6F1-1] 72163 [Q8N6F1-2] |
PTM databases
PhosphoSitePlusi | Q8N6F1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000164007 Expressed in 160 organ(s), highest expression level in trigeminal ganglion |
Genevisiblei | Q8N6F1 HS |
Interactioni
Binary interactionsi
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 127213, 6 interactors |
DIPi | DIP-48953N |
IntActi | Q8N6F1, 59 interactors |
MINTi | Q8N6F1 |
STRINGi | 9606.ENSP00000296387 |
Family & Domainsi
Sequence similaritiesi
Belongs to the claudin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IG5H Eukaryota ENOG410Y143 LUCA |
GeneTreei | ENSGT00940000158624 |
HOGENOMi | HOG000220937 |
InParanoidi | Q8N6F1 |
KOi | K06087 |
OMAi | DNNPATK |
OrthoDBi | 1244077at2759 |
PhylomeDBi | Q8N6F1 |
TreeFami | TF331936 |
Family and domain databases
InterProi | View protein in InterPro IPR006187 Claudin IPR017974 Claudin_CS IPR004031 PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR12002 PTHR12002, 1 hit |
Pfami | View protein in Pfam PF00822 PMP22_Claudin, 1 hit |
PROSITEi | View protein in PROSITE PS01346 CLAUDIN, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8N6F1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 46 | L → P in BAC04691 (PubMed:14702039).Curated | 1 | ||
Isoform 3 (identifier: Q8N6F1-3) | |||||
Sequence conflicti | 186 | R → C in BAH12918 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031238 | 13 | L → F. Corresponds to variant dbSNP:rs12065961EnsemblClinVar. | 1 | |
Natural variantiVAR_031239 | 20 | G → D in HOMG5; perinuclear retention of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs118203979EnsemblClinVar. | 1 | |
Natural variantiVAR_031240 | 57 | Q → 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_031241 | 90 | L → P in HOMG5. 1 PublicationCorresponds to variant dbSNP:rs118203981EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044839 | 131 – 224 | LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3. 1 PublicationAdd BLAST | 94 | |
Alternative sequenceiVSP_010342 | 210 – 224 | PVVKL…GPLGV → YV in isoform 2. 2 PublicationsAdd BLAST | 15 |
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 |
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] |
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] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
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] |
3D structure databases
SMRi | Q8N6F1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 127213, 6 interactors |
DIPi | DIP-48953N |
IntActi | Q8N6F1, 59 interactors |
MINTi | Q8N6F1 |
STRINGi | 9606.ENSP00000296387 |
Protein family/group databases
TCDBi | 1.H.1.1.5 the claudin tight junction (claudin1) family |
PTM databases
PhosphoSitePlusi | Q8N6F1 |
Polymorphism and mutation databases
BioMutai | CLDN19 |
DMDMi | 47606757 |
Proteomic databases
MassIVEi | Q8N6F1 |
PaxDbi | Q8N6F1 |
PeptideAtlasi | Q8N6F1 |
PRIDEi | Q8N6F1 |
ProteomicsDBi | 26945 72162 [Q8N6F1-1] 72163 [Q8N6F1-2] |
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] |
Organism-specific databases
CTDi | 149461 |
DisGeNETi | 149461 |
GeneCardsi | CLDN19 |
HGNCi | HGNC:2040 CLDN19 |
MalaCardsi | CLDN19 |
MIMi | 248190 phenotype 610036 gene |
neXtProti | NX_Q8N6F1 |
OpenTargetsi | ENSG00000164007 |
Orphaneti | 2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
PharmGKBi | PA26566 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IG5H Eukaryota ENOG410Y143 LUCA |
GeneTreei | ENSGT00940000158624 |
HOGENOMi | HOG000220937 |
InParanoidi | Q8N6F1 |
KOi | K06087 |
OMAi | DNNPATK |
OrthoDBi | 1244077at2759 |
PhylomeDBi | Q8N6F1 |
TreeFami | TF331936 |
Enzyme and pathway databases
Reactomei | R-HSA-420029 Tight junction interactions |
Miscellaneous databases
GeneWikii | CLDN19 |
GenomeRNAii | 149461 |
Pharosi | Q8N6F1 |
PROi | PR:Q8N6F1 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164007 Expressed in 160 organ(s), highest expression level in trigeminal ganglion |
Genevisiblei | Q8N6F1 HS |
Family and domain databases
InterProi | View protein in InterPro IPR006187 Claudin IPR017974 Claudin_CS IPR004031 PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR12002 PTHR12002, 1 hit |
Pfami | View protein in Pfam PF00822 PMP22_Claudin, 1 hit |
PROSITEi | View protein in PROSITE PS01346 CLAUDIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CLD19_HUMAN | |
Accessioni | Q8N6F1Primary (citable) accession number: Q8N6F1 Secondary accession number(s): B7Z5I2 Q8N8X0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 17, 2003 |
Last sequence update: | May 24, 2004 | |
Last modified: | November 13, 2019 | |
This is version 157 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot