O15551 (CLD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Claudin-3

Alternative name(s):
Clostridium perfringens enterotoxin receptor 2
Short name=CPE-R 2
Short name=CPE-receptor 2
Rat ventral prostate.1 protein homolog
Short name=hRVP1

Gene names

Name:	CLDN3
Synonyms:	C7orf1, CPETR2

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	220 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.
Subunit structure	Can form homo- and heteropolymers with other CLDN. Homopolymers interact with CLDN1 and CLDN2 homopolymers. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 By similarity.
Subcellular location	Cell junction › tight junction By similarity. Cell membrane; Multi-pass membrane protein By similarity.
Involvement in disease	CLDN3 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Sequence similarities	Belongs to the claudin family.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Tight junction
Disease	Williams-Beuren syndrome
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium-independent cell-cell adhesion Inferred from electronic annotation. Source: Compara response to hypoxia Inferred from expression pattern PubMed 15174142. Source: UniProtKB
Cellular_component	integral to plasma membrane Traceable author statement Ref.2. Source: ProtInc tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	structural molecule activity Inferred from electronic annotation. Source: InterPro transmembrane signaling receptor activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 220	220	Claudin-3		PRO_0000144738
Regions
	Topological domain	1 – 8	8	Cytoplasmic Potential
	Transmembrane	9 – 29	21	Helical; Potential
	Topological domain	30 – 80	51	Extracellular Potential
	Transmembrane	81 – 101	21	Helical; Potential
	Topological domain	102 – 115	14	Cytoplasmic Potential
	Transmembrane	116 – 136	21	Helical; Potential
	Topological domain	137 – 159	23	Extracellular Potential
	Transmembrane	160 – 180	21	Helical; Potential
	Topological domain	181 – 220	40	Cytoplasmic Potential
	Region	219 – 220	2	Interactions with TJP1, TJP2 and TJP3 By similarity
Amino acid modifications
	Modified residue	204	1	Phosphothreonine By similarity

Sequences

	Sequence		Length	Mass (Da)
	O15551 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 1C826EFFF1563C56	FASTA	220	23,319
	10 20 30 40 50 60 MSMGLEITGT ALAVLGWLGT IVCCALPMWR VSAFIGSNII TSQNIWEGLW MNCVVQSTGQ 70 80 90 100 110 120 MQCKVYDSLL ALPQDLQAAR ALIVVAILLA AFGLLVALVG AQCTNCVQDD TAKAKITIVA 130 140 150 160 170 180 GVLFLLAALL TLVPVSWSAN TIIRDFYNPV VPEAQKREMG AGLYVGWAAA ALQLLGGALL 190 200 210 220 CCSCPPREKK YTATKVVYSA PRSTGPGASL GTGYDRKDYV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Analysis of a human gene homologous to rat ventral prostate.1 protein." Peacock R.E., Keen T.J., Inglehearn C.F. Genomics 46:443-449(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo." Katahira J., Sugiyama H., Inoue N., Horiguchi Y., Matsuda M., Sugimoto N. J. Biol. Chem. 272:26652-26658(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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]. Tissue: Colon.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF007189 Genomic DNA. Translation: AAC78277.1. AB000714 mRNA. Translation: BAA22986.1. BC016056 mRNA. Translation: AAH16056.1.
IPI	IPI00007364.
RefSeq	NP_001297.1. NM_001306.3.
UniGene	Hs.647023.
3D structure databases
ProteinModelPortal	O15551.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000378577.
PTM databases
PhosphoSite	O15551.
Proteomic databases
PaxDb	O15551.
PRIDE	O15551.
Protocols and materials databases
DNASU	1365.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000395145; ENSP00000378577; ENSG00000165215. ENST00000572891; ENSP00000458165; ENSG00000262073.
GeneID	1365.
KEGG	hsa:1365.
UCSC	uc003tzg.4. human.
Organism-specific databases
CTD	1365.
GeneCards	GC07M073183.
HGNC	HGNC:2045. CLDN3.
HPA	CAB002702. HPA007322. HPA014361.
MIM	602910. gene.
neXtProt	NX_O15551.
PharmGKB	PA26571.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG281814.
HOGENOM	HOG000220937.
HOVERGEN	HBG000643.
InParanoid	O15551.
KO	K06087.
OMA	NPLVPEA.
OrthoDB	EOG4MPHRF.
PhylomeDB	O15551.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
ArrayExpress	O15551.
Bgee	O15551.
CleanEx	HS_CLDN3.
Genevestigator	O15551.
GermOnline	ENSG00000165215. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR003549. Claudin3. 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. PR01378. CLAUDIN3.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1365.
NextBio	5531.
SOURCE	Search...

Entry information

Entry name

CLD3_HUMAN

Accession

Primary (citable) accession number: O15551

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 1, 1998
Last modified:	May 1, 2013
This is version 109 of the entry and version 1 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.