P56748 (CLD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Claudin-8

Gene names

Name:	CLDN8
ORF Names:	UNQ779/PRO1573

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	225 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Subcellular location	Cell junction › tight junction. Cell membrane; Multi-pass membrane protein. Note: Localizes to tight junctions in all 3 segments of the epididymis, in the caput found in the lateral margins of principal cells, and in the corpus at the interface between basal and principal cells.
Tissue specificity	Expressed in the epididymis, mainly in the caput segment. Ref.7
Miscellaneous	A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells (Ref.8).
Sequence similarities	Belongs to the claudin family.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Tight junction
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
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	endoplasmic reticulum Inferred from direct assay PubMed 16780588. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay PubMed 16780588. Source: UniProtKB 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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 225	225	Claudin-8		PRO_0000144753
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 – 166	28	Extracellular Potential
	Transmembrane	167 – 187	21	Helical; Potential
	Topological domain	188 – 225	38	Cytoplasmic Potential
	Region	224 – 225	2	Interactions with TJP1, TJP2 and TJP3 By similarity
Natural variations
	Natural variant	25	1	T → A. Corresponds to variant rs1557294 [ dbSNP | Ensembl ].		VAR_048739
	Natural variant	129	1	T → A. Corresponds to variant rs685967 [ dbSNP | Ensembl ].		VAR_024417
	Natural variant	151	1	S → P. Ref.3 Corresponds to variant rs686364 [ dbSNP | Ensembl ].		VAR_020387
Experimental info
	Sequence conflict	170	1	T → A in BAD97232. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P56748 [UniParc]. Last modified May 30, 2000. Version 1. Checksum: F7920E8E71682473	FASTA	225	24,845
	10 20 30 40 50 60 MATHALEIAG LFLGGVGMVG TVAVTVMPQW RVSAFIENNI VVFENFWEGL WMNCVRQANI 70 80 90 100 110 120 RMQCKIYDSL LALSPDLQAA RGLMCAASVM SFLAFMMAIL GMKCTRCTGD NEKVKAHILL 130 140 150 160 170 180 TAGIIFIITG MVVLIPVSWV ANAIIRDFYN SIVNVAQKRE LGEALYLGWT TALVLIVGGA 190 200 210 220 LFCCVFCCNE KSSSYRYSIP SHRTTQKSYH TGKKSPSVYS RSQYV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Keen T.J., Inglehearn C.F. Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PRO-151. Tissue: Colon.
[4]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [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]. Tissue: Kidney.
[7]	"Gene expression profiling and its relevance to the blood-epididymal barrier in the human epididymis." Dube E., Chan P.T.K., Hermo L., Cyr D.G. Biol. Reprod. 76:1034-1044(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[8]	"Antibody-based protein profiling of the human chromosome 21." Uhlen M., Oksvold P., Algenas C., Hamsten C., Fagerberg L., Klevebring D., Lundberg E., Odeberg J., Ponten F., Kondo T., Sivertsson A. Mol. Cell. Proteomics 11:0-0(2012) [PubMed] [Europe PMC] [Abstract] Cited for: MISCELLANEOUS.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ250711 Genomic DNA. Translation: CAB60615.1. AY358707 mRNA. Translation: AAQ89070.1. AK223512 mRNA. Translation: BAD97232.1. AP001707 Genomic DNA. Translation: BAA95567.1. CH471079 Genomic DNA. Translation: EAX09901.1. CH471079 Genomic DNA. Translation: EAX09902.1. BC020866 mRNA. Translation: AAH20866.1. BC058004 mRNA. Translation: AAH58004.1.
IPI	IPI01011546.
RefSeq	NP_955360.1. NM_199328.2.
UniGene	Hs.162209.
3D structure databases
ProteinModelPortal	P56748.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000286809.
Protein family/group databases
TCDB	1.H.1.1.7. claudin tight junction (Claudin) family.
PTM databases
PhosphoSite	P56748.
Polymorphism databases
DMDM	6685307.
Proteomic databases
PaxDb	P56748.
PRIDE	P56748.
Protocols and materials databases
DNASU	9073.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000286809; ENSP00000286809; ENSG00000156284. ENST00000399899; ENSP00000382783; ENSG00000156284.
GeneID	9073.
KEGG	hsa:9073.
UCSC	uc002ynu.2. human.
Organism-specific databases
CTD	9073.
GeneCards	GC21M031586.
HGNC	HGNC:2050. CLDN8.
MIM	611231. gene.
neXtProt	NX_P56748.
PharmGKB	PA26576.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40590.
HOVERGEN	HBG000643.
InParanoid	P56748.
KO	K06087.
OrthoDB	EOG4TB4CD.
PhylomeDB	P56748.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
Bgee	P56748.
CleanEx	HS_CLDN8.
Genevestigator	P56748.
GermOnline	ENSG00000156284. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR003926. Claudin8. 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. PR01446. CLAUDIN8.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9073.
NextBio	33997.
SOURCE	Search...

Entry information

Entry name

CLD8_HUMAN

Accession

Primary (citable) accession number: P56748
Secondary accession number(s): D3DSE3, Q53EX7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 30, 2000
Last modified:	April 3, 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.