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Claudin-5 (Transmembrane protein deleted in VCFS) (TMDVCF)

 CLD5_HUMAN              Reviewed;         218 AA.
O00501; B3KS11; Q53XW2; Q8WUW3;
30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
01-JUL-1997, sequence version 1.
27-SEP-2017, entry version 147.
RecName: Full=Claudin-5;
AltName: Full=Transmembrane protein deleted in VCFS;
Short=TMDVCF;
Name=CLDN5; Synonyms=AWAL, TMVCF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=9192844; DOI=10.1006/geno.1997.4734;
Sirotkin H., Morrow B., St Jore B., Puech A., Das Gupta R.,
Patanjali S., Skoultchi A., Weissman S.M., Kucherlapati R.;
"Identification, characterization, and precise mapping of a human gene
encoding a novel membrane-spanning protein from the 22q11 region
deleted in velo-cardio-facial syndrome.";
Genomics 42:245-251(1997).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
Beare D.M., Dunham I.;
"A genome annotation-driven approach to cloning the human ORFeome.";
Genome Biol. 5:R84.1-R84.11(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Prostate;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=10591208; DOI=10.1038/990031;
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
Khan A.S., Lane L., Tilahun Y., Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- FUNCTION: Plays a major role in tight junction-specific
obliteration of the intercellular space. {ECO:0000250}.
-!- SUBUNIT: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-
3. Interacts with MPDZ (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell junction, tight junction. Cell
membrane; Multi-pass membrane protein.
-!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF000959; AAC51364.1; -; mRNA.
EMBL; CR456420; CAG30306.1; -; mRNA.
EMBL; AK092561; BAG52573.1; -; mRNA.
EMBL; BT007254; AAP35918.1; -; mRNA.
EMBL; AC000082; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC002404; AAH02404.1; -; mRNA.
EMBL; BC019290; AAH19290.2; -; mRNA.
EMBL; BC032363; AAH32363.1; -; mRNA.
RefSeq; NP_001124333.1; NM_001130861.1.
RefSeq; NP_003268.2; NM_003277.3.
UniGene; Hs.505337; -.
ProteinModelPortal; O00501; -.
SMR; O00501; -.
BioGrid; 112977; 2.
STRING; 9606.ENSP00000384554; -.
TCDB; 1.H.1.1.16; the claudin tight junction (claudin1) family.
iPTMnet; O00501; -.
PhosphoSitePlus; O00501; -.
SwissPalm; O00501; -.
BioMuta; CLDN5; -.
PaxDb; O00501; -.
PeptideAtlas; O00501; -.
PRIDE; O00501; -.
DNASU; 7122; -.
Ensembl; ENST00000618236; ENSP00000480623; ENSG00000184113.
GeneID; 7122; -.
KEGG; hsa:7122; -.
UCSC; uc062bmp.1; human.
CTD; 7122; -.
DisGeNET; 7122; -.
EuPathDB; HostDB:ENSG00000184113.9; -.
GeneCards; CLDN5; -.
HGNC; HGNC:2047; CLDN5.
HPA; CAB002607; -.
MIM; 602101; gene.
neXtProt; NX_O00501; -.
OpenTargets; ENSG00000184113; -.
PharmGKB; PA26573; -.
eggNOG; ENOG410IJT1; Eukaryota.
eggNOG; ENOG410Y9S8; LUCA.
GeneTree; ENSGT00760000118928; -.
HOGENOM; HOG000220937; -.
HOVERGEN; HBG000643; -.
InParanoid; O00501; -.
KO; K06087; -.
PhylomeDB; O00501; -.
TreeFam; TF331936; -.
Reactome; R-HSA-420029; Tight junction interactions.
Reactome; R-HSA-8935964; RUNX1 regulates expression of components of tight junctions.
ChiTaRS; CLDN5; human.
GeneWiki; CLDN5; -.
GenomeRNAi; 7122; -.
PRO; PR:O00501; -.
Proteomes; UP000005640; Chromosome 22.
Bgee; ENSG00000184113; -.
CleanEx; HS_CLDN5; -.
ExpressionAtlas; O00501; baseline and differential.
Genevisible; O00501; HS.
GO; GO:0016327; C:apicolateral plasma membrane; IDA:UniProtKB.
GO; GO:0005923; C:bicellular tight junction; IDA:UniProtKB.
GO; GO:0030054; C:cell junction; TAS:Reactome.
GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; TAS:UniProtKB.
GO; GO:0005886; C:plasma membrane; IDA:CAFA.
GO; GO:0042802; F:identical protein binding; ISS:UniProtKB.
GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
GO; GO:0016338; P:calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB.
GO; GO:0007043; P:cell-cell junction assembly; IMP:UniProtKB.
GO; GO:0060325; P:face morphogenesis; TAS:UniProtKB.
GO; GO:0007612; P:learning; TAS:UniProtKB.
GO; GO:0003151; P:outflow tract morphogenesis; TAS:UniProtKB.
GO; GO:0060021; P:palate development; TAS:UniProtKB.
GO; GO:1903142; P:positive regulation of establishment of endothelial barrier; IMP:UniProtKB.
GO; GO:2000810; P:regulation of bicellular tight junction assembly; TAS:Reactome.
GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; IDA:UniProtKB.
InterPro; IPR006187; Claudin.
InterPro; IPR003551; Claudin5.
InterPro; IPR017974; Claudin_CS.
InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
PANTHER; PTHR12002; PTHR12002; 1.
Pfam; PF00822; PMP22_Claudin; 1.
PRINTS; PR01380; CLAUDIN5.
PROSITE; PS01346; CLAUDIN; 1.
2: Evidence at transcript level;
Cell junction; Cell membrane; Complete proteome; Membrane;
Reference proteome; Tight junction; Transmembrane;
Transmembrane helix.
CHAIN 1 218 Claudin-5.
/FTId=PRO_0000144745.
TOPO_DOM 1 7 Cytoplasmic. {ECO:0000255}.
TRANSMEM 8 28 Helical. {ECO:0000255}.
TOPO_DOM 29 81 Extracellular. {ECO:0000255}.
TRANSMEM 82 102 Helical. {ECO:0000255}.
TOPO_DOM 103 122 Cytoplasmic. {ECO:0000255}.
TRANSMEM 123 143 Helical. {ECO:0000255}.
TOPO_DOM 144 159 Extracellular. {ECO:0000255}.
TRANSMEM 160 180 Helical. {ECO:0000255}.
TOPO_DOM 181 218 Cytoplasmic. {ECO:0000255}.
REGION 217 218 Interactions with TJP1, TJP2 and TJP3.
{ECO:0000250}.
SEQUENCE 218 AA; 23147 MW; 9F7F9E194D25425F CRC64;
MGSAALEILG LVLCLVGWGG LILACGLPMW QVTAFLDHNI VTAQTTWKGL WMSCVVQSTG
HMQCKVYDSV LALSTEVQAA RALTVSAVLL AFVALFVTLA GAQCTTCVAP GPAKARVALT
GGVLYLFCGL LALVPLCWFA NIVVREFYDP SVPVSQKYEL GAALYIGWAA TALLMVGGCL
LCCGAWVCTG RPDLSFPVKY SAPRRPTATG DYDKKNYV


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