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Protein

Claudin-7

Gene

CLDN7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a major role in tight junction-specific obliteration of the intercellular space.By similarity

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions
SIGNORiO95471

Protein family/group databases

TCDBi1.H.1.1.2 the claudin tight junction (claudin1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-7
Short name:
CLDN-7
Gene namesi
Name:CLDN7
Synonyms:CEPTRL2, CPETRL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000181885.18
HGNCiHGNC:2049 CLDN7
MIMi609131 gene
neXtProtiNX_O95471

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 117CytoplasmicSequence analysisAdd BLAST15
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 160ExtracellularSequence analysisAdd BLAST22
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Topological domaini182 – 211CytoplasmicSequence analysisAdd BLAST30

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi32M → I: Interacts with CD81, and exhibits HCV infection susceptibility in cell culture. 1 Publication1
Mutagenesisi48K → E: Interacts with CD81, and exhibits HCV infection susceptibility in cell culture. 1 Publication1

Organism-specific databases

DisGeNETi1366
OpenTargetsiENSG00000181885
PharmGKBiPA26575

Polymorphism and mutation databases

BioMutaiCLDN7

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447501 – 211Claudin-7Add BLAST211

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95471
MaxQBiO95471
PaxDbiO95471
PeptideAtlasiO95471
PRIDEiO95471
ProteomicsDBi50903
50904 [O95471-2]

PTM databases

iPTMnetiO95471
PhosphoSitePlusiO95471

Expressioni

Tissue specificityi

Expressed in kidney, lung and prostate. Isoform 1 seems to be predominant, except in some normal prostate samples, where isoform 2 is the major form. Down-regulated in breast cancers, including ductal carcinoma in situ (DCIS), lobular carcinoma in situ (LCIS) and invasive ductal carcinoma (IDC) (at protein level), as well as in several cancer cell lines. Loss of expression correlates with histological grade, occurring predominantly in high-grade lesions.2 Publications

Inductioni

By androgens.1 Publication

Gene expression databases

BgeeiENSG00000181885
CleanExiHS_CLDN7
ExpressionAtlasiO95471 baseline and differential
GenevisibleiO95471 HS

Organism-specific databases

HPAiCAB013063
HPA014703
HPA073662

Interactioni

Subunit structurei

Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 (By similarity). The phosphorylated form interacts with EPCAM (PubMed:16054130). Does not interact with CD81 (PubMed:20375010).By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107758, 6 interactors
IntActiO95471, 73 interactors
MINTiO95471
STRINGi9606.ENSP00000353475

Structurei

3D structure databases

ProteinModelPortaliO95471
SMRiO95471
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni210 – 211Interactions with TJP1, TJP2 and TJP3By similarity2

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHPN Eukaryota
ENOG4111GPP LUCA
GeneTreeiENSGT00760000118928
HOGENOMiHOG000220937
HOVERGENiHBG000643
InParanoidiO95471
KOiK06087
OMAiNTKYEFG
OrthoDBiEOG091G0MX2
PhylomeDBiO95471
TreeFamiTF331936

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR003552 Claudin7
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01381 CLAUDIN7
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95471-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MANSGLQLLG FSMALLGWVG LVACTAIPQW QMSSYAGDNI ITAQAMYKGL
60 70 80 90 100
WMDCVTQSTG MMSCKMYDSV LALSAALQAT RALMVVSLVL GFLAMFVATM
110 120 130 140 150
GMKCTRCGGD DKVKKARIAM GGGIIFIVAG LAALVACSWY GHQIVTDFYN
160 170 180 190 200
PLIPTNIKYE FGPAIFIGWA GSALVILGGA LLSCSCPGNE SKAGYRVPRS
210
YPKSNSSKEY V
Length:211
Mass (Da):22,418
Last modified:November 2, 2010 - v4
Checksum:i7F3CC1B963D9006A
GO
Isoform 2 (identifier: O95471-2) [UniParc]FASTAAdd to basket
Also known as: t-CLDN-7

The sequence of this isoform differs from the canonical sequence as follows:
     159-211: Missing.

Show »
Length:158
Mass (Da):16,837
Checksum:i19E2D108C134F26E
GO

Sequence cautioni

The sequence AAP97219 differs from that shown. Reason: Frameshift at positions 18 and 23.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20G → R in AAP97219 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030736133A → T2 PublicationsCorresponds to variant dbSNP:rs17849410Ensembl.1
Natural variantiVAR_014538197V → A5 PublicationsCorresponds to variant dbSNP:rs4562Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013230159 – 211Missing in isoform 2. CuratedAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011497 mRNA Translation: CAA09626.1
AK313958 mRNA Translation: BAG36674.1
BT006829 mRNA Translation: AAP35475.1
AC003688 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90228.1
CH471108 Genomic DNA Translation: EAW90229.1
BC001055 mRNA Translation: AAH01055.1
BC071844 mRNA Translation: AAH71844.1
AF093823 mRNA Translation: AAP97219.1 Frameshift.
CCDSiCCDS11096.1 [O95471-1]
RefSeqiNP_001171951.1, NM_001185022.1 [O95471-1]
NP_001171952.1, NM_001185023.1
NP_001298.3, NM_001307.5 [O95471-1]
UniGeneiHs.513915

Genome annotation databases

EnsembliENST00000360325; ENSP00000353475; ENSG00000181885 [O95471-1]
ENST00000397317; ENSP00000396638; ENSG00000181885 [O95471-1]
GeneIDi1366
KEGGihsa:1366
UCSCiuc002gfm.5 human [O95471-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCLD7_HUMAN
AccessioniPrimary (citable) accession number: O95471
Secondary accession number(s): B2R9X7
, D3DTP0, Q6IPN3, Q7Z4Y7, Q9BVN0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 2, 2010
Last modified: July 18, 2018
This is version 157 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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