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O95471

- CLD7_HUMAN

UniProt

O95471 - CLD7_HUMAN

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Protein

Claudin-7

Gene
CLDN7, CEPTRL2, CPETRL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. identical protein binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. structural molecule activity Source: InterPro

GO - Biological processi

  1. calcium-independent cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_19373. Tight junction interactions.

Protein family/group databases

TCDBi1.H.1.1.2. the claudin tight junction (claudin) 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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:2049. CLDN7.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Lateral cell membrane. Cell junctiontight junction
Note: Co-localizes with EPCAM at the lateral cell membrane and tight junction.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Reviewed predictionAdd
BLAST
Topological domaini29 – 8153Extracellular Reviewed predictionAdd
BLAST
Transmembranei82 – 10221Helical; Reviewed predictionAdd
BLAST
Topological domaini103 – 11715Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei118 – 13821Helical; Reviewed predictionAdd
BLAST
Topological domaini139 – 16022Extracellular Reviewed predictionAdd
BLAST
Transmembranei161 – 18121Helical; Reviewed predictionAdd
BLAST
Topological domaini182 – 21130Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: ProtInc
  2. lateral plasma membrane Source: UniProtKB-SubCell
  3. tight junction Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26575.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 211211Claudin-7PRO_0000144750Add
BLAST

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO95471.
PaxDbiO95471.
PRIDEiO95471.

PTM databases

PhosphoSiteiO95471.

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

ArrayExpressiO95471.
BgeeiO95471.
CleanExiHS_CLDN7.
GenevestigatoriO95471.

Organism-specific databases

HPAiCAB013063.
HPA014703.

Interactioni

Subunit structurei

Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 By similarity. The phosphorylated form interacts with EPCAM.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TACSTD2P097582EBI-740744,EBI-4324738

Protein-protein interaction databases

BioGridi107758. 6 interactions.
IntActiO95471. 3 interactions.
MINTiMINT-1452252.
STRINGi9606.ENSP00000353475.

Structurei

3D structure databases

ProteinModelPortaliO95471.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni210 – 2112Interactions with TJP1, TJP2 and TJP3 By similarity

Sequence similaritiesi

Belongs to the claudin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47316.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO95471.
KOiK06087.
OMAiYKGLWME.
PhylomeDBiO95471.
TreeFamiTF331936.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003552. Claudin7.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01077. CLAUDIN.
PR01381. CLAUDIN7.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MANSGLQLLG FSMALLGWVG LVACTAIPQW QMSSYAGDNI ITAQAMYKGL    50
WMDCVTQSTG MMSCKMYDSV LALSAALQAT RALMVVSLVL GFLAMFVATM 100
GMKCTRCGGD DKVKKARIAM GGGIIFIVAG LAALVACSWY GHQIVTDFYN 150
PLIPTNIKYE FGPAIFIGWA GSALVILGGA LLSCSCPGNE SKAGYRVPRS 200
YPKSNSSKEY V 211
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 AAP97219.1 differs from that shown. Reason: Frameshift at positions 18 and 23.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331A → T.2 Publications
Corresponds to variant rs17849410 [ dbSNP | Ensembl ].
VAR_030736
Natural varianti197 – 1971V → A.5 Publications
Corresponds to variant rs4562 [ dbSNP | Ensembl ].
VAR_014538

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei159 – 21153Missing in isoform 2. VSP_013230Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201G → R in AAP97219. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [O95471-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS11096.1. [O95471-1 ]
RefSeqi NP_001171951.1. NM_001185022.1. [O95471-1 ]
NP_001171952.1. NM_001185023.1.
NP_001298.3. NM_001307.5. [O95471-1 ]
UniGenei Hs.513915.

3D structure databases

ProteinModelPortali O95471.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107758. 6 interactions.
IntActi O95471. 3 interactions.
MINTi MINT-1452252.
STRINGi 9606.ENSP00000353475.

Protein family/group databases

TCDBi 1.H.1.1.2. the claudin tight junction (claudin) family.

PTM databases

PhosphoSitei O95471.

Proteomic databases

MaxQBi O95471.
PaxDbi O95471.
PRIDEi O95471.

Protocols and materials databases

DNASUi 1366.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360325 ; ENSP00000353475 ; ENSG00000181885 . [O95471-1 ]
ENST00000397317 ; ENSP00000396638 ; ENSG00000181885 . [O95471-1 ]
GeneIDi 1366.
KEGGi hsa:1366.
UCSCi uc002gfm.4. human. [O95471-1 ]

Organism-specific databases

CTDi 1366.
GeneCardsi GC17M007163.
HGNCi HGNC:2049. CLDN7.
HPAi CAB013063.
HPA014703.
MIMi 609131. gene.
neXtProti NX_O95471.
PharmGKBi PA26575.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47316.
HOGENOMi HOG000220937.
HOVERGENi HBG000643.
InParanoidi O95471.
KOi K06087.
OMAi YKGLWME.
PhylomeDBi O95471.
TreeFami TF331936.

Enzyme and pathway databases

Reactomei REACT_19373. Tight junction interactions.

Miscellaneous databases

GeneWikii CLDN7.
GenomeRNAii 1366.
NextBioi 5535.
PROi O95471.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95471.
Bgeei O95471.
CleanExi HS_CLDN7.
Genevestigatori O95471.

Family and domain databases

InterProi IPR006187. Claudin.
IPR003552. Claudin7.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view ]
PANTHERi PTHR12002. PTHR12002. 1 hit.
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01077. CLAUDIN.
PR01381. CLAUDIN7.
PROSITEi PS01346. CLAUDIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Keen T.J.
    Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-197.
    Tissue: Colon adenocarcinoma.
  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] (ISOFORM 1), VARIANT ALA-197.
    Tissue: Colon.
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    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.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-133 AND ALA-197.
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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), VARIANTS THR-133 AND ALA-197.
    Tissue: Mammary gland and Placenta.
  7. "Cloning and expression of a novel human cDNA homology to murine claudin-1 mRNA."
    Yue P., Yu L., Bi A.D., Zhang M., He H., Zhao S.Y.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 13-211 (ISOFORM 1), VARIANT ALA-197.
  8. "Regulation of the expression of the prostate-specific antigen by claudin-7."
    Zheng J.-Y., Yu D., Foroohar M., Ko E., Chan J., Kim N., Chiu R., Pang S.
    J. Membr. Biol. 194:187-197(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, INDUCTION, TISSUE SPECIFICITY.
  9. "Loss of the tight junction protein claudin-7 correlates with histological grade in both ductal carcinoma in situ and invasive ductal carcinoma of the breast."
    Kominsky S.L., Argani P., Korz D., Evron E., Raman V., Garrett E., Rein A., Sauter G., Kallioniemi O.-P., Sukumar S.
    Oncogene 22:2021-2033(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  10. "The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7."
    Ladwein M., Pape U.F., Schmidt D.S., Schnoelzer M., Fiedler S., Langbein L., Franke W.W., Moldenhauer G., Zoeller M.
    Exp. Cell Res. 309:345-357(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, PHOSPHORYLATION, INTERACTION WITH EPCAM.

Entry informationi

Entry nameiCLD7_HUMAN
AccessioniPrimary (citable) accession number: O95471
Secondary accession number(s): B2R9X7
, D3DTP0, Q6IPN3, Q7Z4Y7, Q9BVN0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 2, 2010
Last modified: September 3, 2014
This is version 126 of the entry and version 4 of the sequence. [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

External Data

Dasty 3

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