CLD3_HUMAN
ID CLD3_HUMAN Reviewed; 220 AA.
AC O15551;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Claudin-3;
DE AltName: Full=Clostridium perfringens enterotoxin receptor 2;
DE Short=CPE-R 2;
DE Short=CPE-receptor 2;
DE AltName: Full=Rat ventral prostate.1 protein homolog;
DE Short=hRVP1;
GN Name=CLDN3; Synonyms=C7orf1, CPETR2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9441748; DOI=10.1006/geno.1997.5033;
RA Peacock R.E., Keen T.J., Inglehearn C.F.;
RT "Analysis of a human gene homologous to rat ventral prostate.1 protein.";
RL Genomics 46:443-449(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9334247; DOI=10.1074/jbc.272.42.26652;
RA Katahira J., Sugiyama H., Inoue N., Horiguchi Y., Matsuda M., Sugimoto N.;
RT "Clostridium perfringens enterotoxin utilizes two structurally related
RT membrane proteins as functional receptors in vivo.";
RL J. Biol. Chem. 272:26652-26658(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Plays a major role in tight junction-specific obliteration of
CC the intercellular space, through calcium-independent cell-adhesion
CC activity. {ECO:0000250|UniProtKB:Q9Z0G9}.
CC -!- SUBUNIT: Can form homo- and heteropolymers with other CLDN.
CC Homopolymers interact with CLDN1 and CLDN2 homopolymers. Directly
CC interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 (By similarity).
CC {ECO:0000250|UniProtKB:Q9Z0G9}.
CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction
CC {ECO:0000250|UniProtKB:Q9Z0G9}. Cell membrane
CC {ECO:0000250|UniProtKB:Q9Z0G9}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:Q9Z0G9}.
CC -!- DISEASE: Note=CLDN3 is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region.
CC -!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}.
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DR EMBL; AF007189; AAC78277.1; -; Genomic_DNA.
DR EMBL; AB000714; BAA22986.1; -; mRNA.
DR EMBL; BC016056; AAH16056.1; -; mRNA.
DR CCDS; CCDS5559.1; -.
DR RefSeq; NP_001297.1; NM_001306.3.
DR AlphaFoldDB; O15551; -.
DR SMR; O15551; -.
DR BioGRID; 107757; 22.
DR DIP; DIP-61079N; -.
DR IntAct; O15551; 3.
DR STRING; 9606.ENSP00000378577; -.
DR TCDB; 1.H.1.1.15; the claudin tight junction (claudin1) family.
DR iPTMnet; O15551; -.
DR PhosphoSitePlus; O15551; -.
DR SwissPalm; O15551; -.
DR BioMuta; CLDN3; -.
DR EPD; O15551; -.
DR jPOST; O15551; -.
DR MassIVE; O15551; -.
DR PaxDb; O15551; -.
DR PeptideAtlas; O15551; -.
DR PRIDE; O15551; -.
DR ProteomicsDB; 48753; -.
DR ABCD; O15551; 6 sequenced antibodies.
DR Antibodypedia; 3638; 552 antibodies from 39 providers.
DR DNASU; 1365; -.
DR Ensembl; ENST00000395145.3; ENSP00000378577.2; ENSG00000165215.6.
DR GeneID; 1365; -.
DR KEGG; hsa:1365; -.
DR MANE-Select; ENST00000395145.3; ENSP00000378577.2; NM_001306.4; NP_001297.1.
DR CTD; 1365; -.
DR DisGeNET; 1365; -.
DR GeneCards; CLDN3; -.
DR HGNC; HGNC:2045; CLDN3.
DR HPA; ENSG00000165215; Tissue enhanced (intestine, pancreas, thyroid gland).
DR MIM; 602910; gene.
DR neXtProt; NX_O15551; -.
DR OpenTargets; ENSG00000165215; -.
DR PharmGKB; PA26571; -.
DR VEuPathDB; HostDB:ENSG00000165215; -.
DR eggNOG; ENOG502QRZ8; Eukaryota.
DR GeneTree; ENSGT00940000162095; -.
DR HOGENOM; CLU_076370_1_2_1; -.
DR InParanoid; O15551; -.
DR OMA; LCSIICC; -.
DR OrthoDB; 1231389at2759; -.
DR PhylomeDB; O15551; -.
DR TreeFam; TF331936; -.
DR PathwayCommons; O15551; -.
DR Reactome; R-HSA-420029; Tight junction interactions.
DR SignaLink; O15551; -.
DR SIGNOR; O15551; -.
DR BioGRID-ORCS; 1365; 13 hits in 1063 CRISPR screens.
DR GeneWiki; CLDN3; -.
DR GenomeRNAi; 1365; -.
DR Pharos; O15551; Tbio.
DR PRO; PR:O15551; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O15551; protein.
DR Bgee; ENSG00000165215; Expressed in mucosa of transverse colon and 135 other tissues.
DR ExpressionAtlas; O15551; baseline and differential.
DR Genevisible; O15551; HS.
DR GO; GO:0043296; C:apical junction complex; IMP:ARUK-UCL.
DR GO; GO:0016327; C:apicolateral plasma membrane; IEA:Ensembl.
DR GO; GO:0005923; C:bicellular tight junction; IDA:UniProtKB.
DR GO; GO:0005911; C:cell-cell junction; IDA:ARUK-UCL.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0070160; C:tight junction; IDA:ARUK-UCL.
DR GO; GO:0042802; F:identical protein binding; IPI:UniProtKB.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; TAS:ProtInc.
DR GO; GO:0031532; P:actin cytoskeleton reorganization; IMP:ARUK-UCL.
DR GO; GO:0070830; P:bicellular tight junction assembly; IMP:UniProtKB.
DR GO; GO:0016338; P:calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; IEA:Ensembl.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0034331; P:cell junction maintenance; ISS:ARUK-UCL.
DR GO; GO:0003382; P:epithelial cell morphogenesis; ISS:UniProtKB.
DR GO; GO:0014045; P:establishment of endothelial blood-brain barrier; ISS:ARUK-UCL.
DR GO; GO:0035633; P:maintenance of blood-brain barrier; NAS:ARUK-UCL.
DR GO; GO:0030336; P:negative regulation of cell migration; IMP:ARUK-UCL.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IMP:ARUK-UCL.
DR GO; GO:0010629; P:negative regulation of gene expression; IMP:ARUK-UCL.
DR GO; GO:0061045; P:negative regulation of wound healing; IMP:ARUK-UCL.
DR GO; GO:1903348; P:positive regulation of bicellular tight junction assembly; IMP:ARUK-UCL.
DR GO; GO:1901890; P:positive regulation of cell junction assembly; IMP:ARUK-UCL.
DR GO; GO:0030335; P:positive regulation of cell migration; IMP:ARUK-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:ARUK-UCL.
DR GO; GO:1905050; P:positive regulation of metallopeptidase activity; IMP:ARUK-UCL.
DR GO; GO:0001934; P:positive regulation of protein phosphorylation; IMP:ARUK-UCL.
DR GO; GO:0090303; P:positive regulation of wound healing; IMP:ARUK-UCL.
DR GO; GO:0022604; P:regulation of cell morphogenesis; IMP:ARUK-UCL.
DR GO; GO:0090559; P:regulation of membrane permeability; IMP:ARUK-UCL.
DR GO; GO:0150111; P:regulation of transepithelial transport; IMP:ARUK-UCL.
DR GO; GO:0045471; P:response to ethanol; IEA:Ensembl.
DR GO; GO:0140459; P:response to Gram-positive bacterium; IEA:Ensembl.
DR GO; GO:0001666; P:response to hypoxia; IEP:UniProtKB.
DR InterPro; IPR006187; Claudin.
DR InterPro; IPR003549; Claudin3.
DR InterPro; IPR017974; Claudin_CS.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR PANTHER; PTHR12002; PTHR12002; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01378; CLAUDIN3.
DR PROSITE; PS01346; CLAUDIN; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cell membrane; Membrane; Phosphoprotein; Reference proteome;
KW Tight junction; Transmembrane; Transmembrane helix;
KW Williams-Beuren syndrome.
FT CHAIN 1..220
FT /note="Claudin-3"
FT /id="PRO_0000144738"
FT TOPO_DOM 1..8
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 9..29
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 30..80
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 102..115
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 137..159
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 160..180
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 181..220
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 219..220
FT /note="Interactions with TJP1, TJP2 and TJP3"
FT /evidence="ECO:0000250"
FT MOD_RES 198
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q9Z0G9"
FT MOD_RES 199
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q63400"
FT MOD_RES 209
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
SQ SEQUENCE 220 AA; 23319 MW; 1C826EFFF1563C56 CRC64;
MSMGLEITGT ALAVLGWLGT IVCCALPMWR VSAFIGSNII TSQNIWEGLW MNCVVQSTGQ
MQCKVYDSLL ALPQDLQAAR ALIVVAILLA AFGLLVALVG AQCTNCVQDD TAKAKITIVA
GVLFLLAALL TLVPVSWSAN TIIRDFYNPV VPEAQKREMG AGLYVGWAAA ALQLLGGALL
CCSCPPREKK YTATKVVYSA PRSTGPGASL GTGYDRKDYV
