Q8N6F1 (CLD19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Claudin-19

Gene names

Name:

CLDN19

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	224 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › tight 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 process	Sensory transduction Vision
Cellular component	Cell junction Cell membrane Membrane Tight junction
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Primary hypomagnesemia
Domain	Transmembrane Transmembrane helix
Ligand	Magnesium
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apical junction assembly Inferred from electronic annotation. Source: Compara calcium-independent cell-cell adhesion Inferred from sequence or structural similarity. Source: UniProtKB neuronal action potential propagation Inferred from electronic annotation. Source: Compara response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	basolateral plasma membrane Inferred from direct assay PubMed 16427635. Source: MGI cytoplasm Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: Compara tight junction Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	identical protein binding Inferred from sequence or structural similarity. Source: UniProtKB structural molecule activity Inferred from electronic annotation. Source: Compara
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 224	224	Claudin-19		PRO_0000144781
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Helical; Potential
	Topological domain	29 – 81	53	Extracellular Potential
	Transmembrane	82 – 102	21	Helical; Potential
	Topological domain	103 – 117	15	Cytoplasmic Potential
	Transmembrane	118 – 138	21	Helical; Potential
	Topological domain	139 – 160	22	Extracellular Potential
	Transmembrane	161 – 181	21	Helical; Potential
	Topological domain	182 – 224	43	Cytoplasmic Potential
Natural variations
	Alternative sequence	131 – 224	94	LCTLT…GPLGV → MNLAQPCSWAGPQLAWPCWA APSSAAHARSQRDPTAAHSP IGLDPLLLPESTSELRLPWP APHPVAPLPSIQPASQHPGQ GHWGIGWA in isoform 3.		VSP_044839
	Alternative sequence	210 – 224	15	PVVKL…GPLGV → YV in isoform 2.		VSP_010342
	Natural variant	13	1	L → F. Corresponds to variant rs12065961 [ dbSNP | Ensembl ].		VAR_031238
	Natural variant	20	1	G → D in HOMG5; perinuclear retention of the mutant protein. Ref.6		VAR_031239
	Natural variant	57	1	Q → 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 variant	90	1	L → P in HOMG5. Ref.6		VAR_031241
Experimental info
	Sequence conflict	46	1	L → P in BAC04691. Ref.2
Isoform 3:
	Sequence conflict	186	1	R → C in BAH12918. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 24, 2004. Version 2. Checksum: 60E1A21902415219	FASTA	224	23,229
	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
	Isoform 2 [UniParc]. Checksum: 8AE4544AA1CE6462	FASTA	211	22,077
	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 FLCCTCPEPE RPNSSPQPYR PGPSAAAREY V
	Isoform 3 [UniParc]. Checksum: D87396823B61D780	FASTA	218	22,721
	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 MNLAQPCSWA GPQLAWPCWA APSSAAHARS QRDPTAAHSP IGLDPLLLPE 190 200 210 STSELRLPWP APHPVAPLPS IQPASQHPGQ GHWGIGWA

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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. , 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.
IPI	IPI00412494. IPI00412495. IPI00922261.
RefSeq	NP_001116867.1. NM_001123395.1. NP_001172046.1. NM_001185117.1. NP_683763.2. NM_148960.2.
UniGene	Hs.496270.
3D structure databases
ProteinModelPortal	Q8N6F1.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48953N.
STRING	9606.ENSP00000296387.
Protein family/group databases
TCDB	1.H.1.1.5. claudin tight junction (Claudin) family.
PTM databases
PhosphoSite	Q8N6F1.
Polymorphism databases
DMDM	47606757.
Proteomic databases
PaxDb	Q8N6F1.
PRIDE	Q8N6F1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296387; ENSP00000296387; ENSG00000164007. ENST00000372539; ENSP00000361617; ENSG00000164007. ENST00000539749; ENSP00000443229; ENSG00000164007.
GeneID	149461.
KEGG	hsa:149461.
UCSC	uc001cht.1. human. uc001chu.2. human.
Organism-specific databases
CTD	149461.
GeneCards	GC01M043174.
HGNC	HGNC:2040. CLDN19.
MIM	248190. phenotype. 610036. gene.
neXtProt	NX_Q8N6F1.
Orphanet	2196. Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement.
PharmGKB	PA26566.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40074.
HOGENOM	HOG000220937.
HOVERGEN	HBG000643.
InParanoid	Q8N6F1.
KO	K06087.
OMA	LDVHIQT.
OrthoDB	EOG4G7C0B.
PhylomeDB	Q8N6F1.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
ArrayExpress	Q8N6F1.
Bgee	Q8N6F1.
CleanEx	HS_CLDN19.
Genevestigator	Q8N6F1.
GermOnline	ENSG00000164007. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR017974. Claudin_CS. IPR004031. PMP22/EMP/MP20/Claudin. [Graphical view]
PANTHER	PTHR12002. PTHR12002. 1 hit.
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
PRINTS	PR01077. CLAUDIN.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	149461.
NextBio	86156.
SOURCE	Search...

Entry information

Entry name

CLD19_HUMAN

Accession

Primary (citable) accession number: Q8N6F1
Secondary accession number(s): B7Z5I2 , F5H5P9, Q5QT57, Q8N8X0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	May 24, 2004
Last modified:	May 1, 2013
This is version 103 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.