O95500 (CLD14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Claudin-14

Gene names

Name:	CLDN14
ORF Names:	UNQ777/PRO1571

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	239 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.
Subcellular location	Cell junction › tight junction. Cell membrane; Multi-pass membrane protein.
Tissue specificity	Liver, kidney. Also found in ear.
Involvement in disease	Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2
Sequence similarities	Belongs to the claudin family.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Tight junction
Coding sequence diversity	Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness
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 protein complex assembly Traceable author statement PubMed 7644498. Source: ProtInc tight junction assembly Traceable author statement. Source: Reactome
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 – 239	239	Claudin-14		PRO_0000144769
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 – 115	13	Cytoplasmic Potential
	Transmembrane	116 – 136	21	Helical; Potential
	Topological domain	137 – 162	26	Extracellular Potential
	Transmembrane	163 – 183	21	Helical; Potential
	Topological domain	184 – 239	56	Cytoplasmic Potential
Amino acid modifications
	Modified residue	224	1	Phosphoserine By similarity
	Modified residue	227	1	Phosphoserine By similarity
	Modified residue	231	1	Phosphoserine By similarity
Natural variations
	Natural variant	4	1	T → M. Ref.7		VAR_017227
	Natural variant	85	1	V → D in DFNB29. Ref.2		VAR_010738

Sequences

	Sequence		Length	Mass (Da)
	O95500 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: DD41652F7FD0E09A	FASTA	239	25,699
	10 20 30 40 50 60 MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG 70 80 90 100 110 120 IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL 130 140 150 160 170 180 GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL 190 200 210 220 230 LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Keen T.J., Inglehearn C.F. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29." Wilcox E.R., Burton Q.L., Naz S., Riazuddin S., Smith T.N., Ploplis B., Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., Kachar B., Wu D.K., Griffith A.J., Riazuddin S., Friedman T.B. Cell 104:165-172(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT DFNB29 ASP-85. Tissue: Liver.
[3]	"Claudin 14 and deafness." Wattenhofer M., Falciola V., Charollais A., Caille D., Borel C., Estivill X., Petersen M.B., Antonarakis S.E., Meda P., Reymond A. Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta and Testis.
[4]	"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].
[5]	"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].
[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: Skin.
[7]	"Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss." Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M., Wollnik B. Clin. Genet. 64:65-69(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-4.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ132445 Genomic DNA. Translation: CAA10669.1. AF314090 mRNA. Translation: AAG60052.1. AY355348 mRNA. Translation: AAR05858.1. AY355349 mRNA. Translation: AAR05859.1. AJ566765 mRNA. Translation: CAD97762.1. AJ566766 mRNA. Translation: CAD97763.1. AY358533 mRNA. Translation: AAQ88897.1. AP001726 Genomic DNA. Translation: BAA95509.1. BC012126 mRNA. Translation: AAH12126.1.
IPI	IPI00031288.
RefSeq	NP_001139549.1. NM_001146077.1. NP_001139550.1. NM_001146078.2. NP_001139551.1. NM_001146079.1. NP_036262.1. NM_012130.3. NP_652763.1. NM_144492.2.
UniGene	Hs.660278. Hs.741857.
3D structure databases
ProteinModelPortal	O95500.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000339292.
PTM databases
PhosphoSite	O95500.
Proteomic databases
PaxDb	O95500.
PRIDE	O95500.
Protocols and materials databases
DNASU	23562.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342108; ENSP00000339292; ENSG00000159261. ENST00000399135; ENSP00000382087; ENSG00000159261. ENST00000399136; ENSP00000382088; ENSG00000159261. ENST00000399137; ENSP00000382090; ENSG00000159261. ENST00000399139; ENSP00000382092; ENSG00000159261.
GeneID	23562.
KEGG	hsa:23562.
UCSC	uc002yvk.1. human.
Organism-specific databases
CTD	23562.
GeneCards	GC21M037832.
HGNC	HGNC:2035. CLDN14.
MIM	605608. gene. 614035. phenotype.
neXtProt	NX_O95500.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA26561.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41985.
HOGENOM	HOG000220937.
HOVERGEN	HBG000643.
InParanoid	O95500.
KO	K06087.
OMA	CACAVVG.
OrthoDB	EOG4PC9TK.
PhylomeDB	O95500.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
Bgee	O95500.
CleanEx	HS_CLDN14.
Genevestigator	O95500.
GermOnline	ENSG00000159261. Homo sapiens.
Family and domain databases
InterPro	IPR006187. Claudin. IPR003556. Claudin14. 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. PR01385. CLAUDIN14.
PROSITE	PS01346. CLAUDIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23562.
NextBio	46146.
SOURCE	Search...

Entry information

Entry name

CLD14_HUMAN

Accession

Primary (citable) accession number: O95500

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 120 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.