O95471 (CLD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Claudin-7
Short name=CLDN-7

Gene names

Name:	CLDN7
Synonyms:	CEPTRL2, CPETRL2

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	211 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 By similarity.
Subunit structure	Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 By similarity. The phosphorylated form interacts with EPCAM. Ref.10
Subcellular location	Cell membrane; Multi-pass membrane protein. Lateral cell membrane. Cell junction › tight junction. Note: Co-localizes with EPCAM at the lateral cell membrane and tight junction. Ref.8 Ref.9 Ref.10
Tissue specificity	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. Ref.8 Ref.9
Induction	By androgens. Ref.8
Post-translational modification	Phosphorylated. Ref.10
Sequence similarities	Belongs to the claudin family.
Sequence caution	The sequence AAP97219.1 differs from that shown. Reason: Frameshift at positions 18 and 23.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Tight junction
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium-independent cell-cell adhesion Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to membrane Traceable author statement PubMed 9892664. Source: ProtInc lateral plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell tight junction Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	identical protein binding Inferred from sequence or structural similarity. Source: UniProtKB structural molecule activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O95471-1)

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.

Isoform 2 (identifier: O95471-2)

Also known as: t-CLDN-7;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 211	211	Claudin-7		PRO_0000144750
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Helical; Potential
	Topological domain	29 – 81	53	Extracellular Potential
	Transmembrane	82 – 102	21	Helical; Potential
	Topological domain	103 – 117	15	Cytoplasmic Potential
	Transmembrane	118 – 138	21	Helical; Potential
	Topological domain	139 – 160	22	Extracellular Potential
	Transmembrane	161 – 181	21	Helical; Potential
	Topological domain	182 – 211	30	Cytoplasmic Potential
	Region	210 – 211	2	Interactions with TJP1, TJP2 and TJP3 By similarity
Natural variations
	Alternative sequence	159 – 211	53	Missing in isoform 2.		VSP_013230
	Natural variant	133	1	A → T. Ref.3 Ref.6 Corresponds to variant rs17849410 [ dbSNP | Ensembl ].		VAR_030736
	Natural variant	197	1	V → A. Ref.1 Ref.2 Ref.3 Ref.6 Ref.7 Corresponds to variant rs4562 [ dbSNP | Ensembl ].		VAR_014538
Experimental info
	Sequence conflict	20	1	G → R in AAP97219. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 4. Checksum: 7F3CC1B963D9006A	FASTA	211	22,418
	10 20 30 40 50 60 MANSGLQLLG FSMALLGWVG LVACTAIPQW QMSSYAGDNI ITAQAMYKGL WMDCVTQSTG 70 80 90 100 110 120 MMSCKMYDSV LALSAALQAT RALMVVSLVL GFLAMFVATM GMKCTRCGGD DKVKKARIAM 130 140 150 160 170 180 GGGIIFIVAG LAALVACSWY GHQIVTDFYN PLIPTNIKYE FGPAIFIGWA GSALVILGGA 190 200 210 LLSCSCPGNE SKAGYRVPRS YPKSNSSKEY V
	Isoform 2 (t-CLDN-7) [UniParc]. Checksum: 19E2D108C134F26E	FASTA	158	16,837
	10 20 30 40 50 60 MANSGLQLLG FSMALLGWVG LVACTAIPQW QMSSYAGDNI ITAQAMYKGL WMDCVTQSTG 70 80 90 100 110 120 MMSCKMYDSV LALSAALQAT RALMVVSLVL GFLAMFVATM GMKCTRCGGD DKVKKARIAM 130 140 150 GGGIIFIVAG LAALVACSWY GHQIVTDFYN PLIPTNIK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00294755. IPI00794537.
RefSeq	NP_001171951.1. NM_001185022.1. NP_001171952.1. NM_001185023.1. NP_001298.3. NM_001307.5.
UniGene	Hs.513915.
3D structure databases
ProteinModelPortal	O95471.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95471. 2 interactions.
MINT	MINT-1452252.
STRING	9606.ENSP00000353475.
Protein family/group databases
TCDB	1.H.1.1.2. claudin tight junction (Claudin) family. 1.H.1.9.1. claudin tight junction (Claudin) family.
PTM databases
PhosphoSite	O95471.
Proteomic databases
PaxDb	O95471.
PRIDE	O95471.
Protocols and materials databases
DNASU	1366.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360325; ENSP00000353475; ENSG00000181885. ENST00000397317; ENSP00000396638; ENSG00000181885.
GeneID	1366.
KEGG	hsa:1366.
UCSC	uc002gfm.4. human.
Organism-specific databases
CTD	1366.
GeneCards	GC17M007163.
HGNC	HGNC:2049. CLDN7.
HPA	CAB013063. HPA014703.
MIM	609131. gene.
neXtProt	NX_O95471.
PharmGKB	PA26575.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47316.
HOGENOM	HOG000220937.
HOVERGEN	HBG000643.
InParanoid	O95471.
KO	K06087.
OMA	YKGLWME.
OrthoDB	EOG4G7C0B.
PhylomeDB	O95471.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
ArrayExpress	O95471.
Bgee	O95471.
CleanEx	HS_CLDN7.
Genevestigator	O95471.
GermOnline	ENSG00000181885. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR003552. Claudin7. IPR017974. Claudin_CS. IPR004031. PMP22/EMP/MP20/Claudin. [Graphical view]
PANTHER	PTHR12002. PTHR12002. 1 hit. PTHR12002:SF30. PTHR12002:SF30. 1 hit.
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
PRINTS	PR01077. CLAUDIN. PR01381. CLAUDIN7.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1366.
NextBio	5535.
SOURCE	Search...

Entry information

Entry name

CLD7_HUMAN

Accession

Primary (citable) accession number: O95471
Secondary accession number(s): B2R9X7 , D3DTP0, Q6IPN3, Q7Z4Y7, Q9BVN0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 2, 2010
Last modified:	April 3, 2013
This is version 113 of the entry and version 4 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.