CLD11_HUMAN
ID CLD11_HUMAN Reviewed; 207 AA.
AC O75508; B2R7C1; D3DNQ5; Q5U0P3;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 30-MAY-2000, sequence version 2.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Claudin-11;
DE AltName: Full=Oligodendrocyte-specific protein;
GN Name=CLDN11; Synonyms=OSP, OTM;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Spinal cord;
RX PubMed=10700007;
RX DOI=10.1002/(sici)1097-4547(20000315)59:6<706::aid-jnr2>3.0.co;2-d;
RA Bronstein J.M., Tiwari-Woodruff S., Buznikov A.G., Stevens D.B.;
RT "Involvement of OSP/claudin-11 in oligodendrocyte membrane interactions:
RT role in biology and disease.";
RL J. Neurosci. Res. 59:706-711(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Keen T.J., Inglehearn C.F.;
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH OCLN.
RX PubMed=20375010; DOI=10.1074/jbc.m110.104836;
RA Harris H.J., Davis C., Mullins J.G., Hu K., Goodall M., Farquhar M.J.,
RA Mee C.J., McCaffrey K., Young S., Drummer H., Balfe P., McKeating J.A.;
RT "Claudin association with CD81 defines hepatitis C virus entry.";
RL J. Biol. Chem. 285:21092-21102(2010).
RN [8]
RP INVOLVEMENT IN HLD22.
RX PubMed=33313762; DOI=10.1093/brain/awaa410;
RA Riedhammer K.M., Stockler S., Ploski R., Wenzel M., Adis-Dutschmann B.,
RA Ahting U., Alhaddad B., Blaschek A., Haack T.B., Kopajtich R., Lee J.,
RA Murcia Pienkowski V., Pollak A., Szymanska K., Tarailo-Graovac M.,
RA van der Lee R., van Karnebeek C.D., Meitinger T., Kraegeloh-Mann I.,
RA Vill K.;
RT "De novo stop-loss variants in CLDN11 cause hypomyelinating
RT leukodystrophy.";
RL Brain 144:411-419(2021).
RN [9]
RP ERRATUM OF PUBMED:33313762.
RX PubMed=33991082; DOI=10.1093/brain/awab034;
RA Riedhammer K.M., Stockler S., Ploski R., Wenzel M., Adis-Dutschmann B.,
RA Ahting U., Alhaddad B., Blaschek A., Haack T.B., Kopajtich R., Lee J.,
RA Murcia Pienkowski V., Pollak A., Szymanska K., Tarailo-Graovac M.,
RA van der Lee R., van Karnebeek C.D., Meitinger T., Kraegeloh-Mann I.,
RA Vill K.;
RL Brain 144:e48-e48(2021).
CC -!- FUNCTION: Plays a major role in tight junction-specific obliteration of
CC the intercellular space, through calcium-independent cell-adhesion
CC activity. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with tetraspanin-3/TSPAN3 (By similarity). Interacts
CC with OCLN (PubMed:20375010). {ECO:0000250|UniProtKB:Q60771,
CC ECO:0000269|PubMed:20375010}.
CC -!- INTERACTION:
CC O75508; Q86WK6: AMIGO1; NbExp=3; IntAct=EBI-12820543, EBI-19125216;
CC O75508; Q86V38: ATN1; NbExp=3; IntAct=EBI-12820543, EBI-11954292;
CC O75508; Q6UWD8: C16orf54; NbExp=3; IntAct=EBI-12820543, EBI-18041102;
CC O75508; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-12820543, EBI-12142257;
CC O75508; Q92876: KLK6; NbExp=3; IntAct=EBI-12820543, EBI-2432309;
CC O75508; P26715: KLRC1; NbExp=3; IntAct=EBI-12820543, EBI-9018187;
CC O75508; A0PJX4: SHISA3; NbExp=3; IntAct=EBI-12820543, EBI-10171518;
CC O75508; Q9BZL3: SMIM3; NbExp=3; IntAct=EBI-12820543, EBI-741850;
CC O75508; O43278-2: SPINT1; NbExp=3; IntAct=EBI-12820543, EBI-12078338;
CC O75508; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-12820543, EBI-11742770;
CC O75508; O43557: TNFSF14; NbExp=3; IntAct=EBI-12820543, EBI-524131;
CC O75508; P21754-3: ZP3; NbExp=3; IntAct=EBI-12820543, EBI-17458299;
CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane
CC {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISEASE: Leukodystrophy, hypomyelinating, 22 (HLD22) [MIM:619328]: An
CC autosomal dominant disorder characterized by global developmental
CC delay, mildly impaired intellectual development, motor impairment, limb
CC spasticity, dysarthria, and eye abnormalities including hypermetropia.
CC Brain imaging shows hypomyelinating leukodystrophy.
CC {ECO:0000269|PubMed:33313762}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}.
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DR EMBL; AF068863; AAC25187.1; -; mRNA.
DR EMBL; AJ245901; CAB55487.1; -; mRNA.
DR EMBL; BT019402; AAV38209.1; -; mRNA.
DR EMBL; BT019403; AAV38210.1; -; mRNA.
DR EMBL; AK312923; BAG35768.1; -; mRNA.
DR EMBL; CH471052; EAW78505.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW78509.1; -; Genomic_DNA.
DR EMBL; BC013577; AAH13577.1; -; mRNA.
DR CCDS; CCDS3213.1; -.
DR RefSeq; NP_005593.2; NM_005602.5.
DR AlphaFoldDB; O75508; -.
DR SMR; O75508; -.
DR BioGRID; 111051; 10.
DR IntAct; O75508; 12.
DR STRING; 9606.ENSP00000064724; -.
DR iPTMnet; O75508; -.
DR PhosphoSitePlus; O75508; -.
DR SwissPalm; O75508; -.
DR BioMuta; CLDN11; -.
DR jPOST; O75508; -.
DR MassIVE; O75508; -.
DR PaxDb; O75508; -.
DR PeptideAtlas; O75508; -.
DR PRIDE; O75508; -.
DR ProteomicsDB; 50057; -.
DR Antibodypedia; 2785; 361 antibodies from 38 providers.
DR DNASU; 5010; -.
DR Ensembl; ENST00000064724.8; ENSP00000064724.4; ENSG00000013297.12.
DR GeneID; 5010; -.
DR KEGG; hsa:5010; -.
DR MANE-Select; ENST00000064724.8; ENSP00000064724.4; NM_005602.6; NP_005593.2.
DR UCSC; uc003fgx.4; human.
DR CTD; 5010; -.
DR DisGeNET; 5010; -.
DR GeneCards; CLDN11; -.
DR HGNC; HGNC:8514; CLDN11.
DR HPA; ENSG00000013297; Group enriched (brain, ovary, testis).
DR MIM; 601326; gene.
DR MIM; 619328; phenotype.
DR neXtProt; NX_O75508; -.
DR OpenTargets; ENSG00000013297; -.
DR PharmGKB; PA26559; -.
DR VEuPathDB; HostDB:ENSG00000013297; -.
DR eggNOG; ENOG502QSDJ; Eukaryota.
DR GeneTree; ENSGT00890000139496; -.
DR HOGENOM; CLU_094997_0_0_1; -.
DR InParanoid; O75508; -.
DR OMA; PLYHCIS; -.
DR OrthoDB; 1223820at2759; -.
DR PhylomeDB; O75508; -.
DR TreeFam; TF331936; -.
DR PathwayCommons; O75508; -.
DR Reactome; R-HSA-420029; Tight junction interactions.
DR SignaLink; O75508; -.
DR BioGRID-ORCS; 5010; 10 hits in 1073 CRISPR screens.
DR ChiTaRS; CLDN11; human.
DR GeneWiki; CLDN11; -.
DR GenomeRNAi; 5010; -.
DR Pharos; O75508; Tbio.
DR PRO; PR:O75508; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; O75508; protein.
DR Bgee; ENSG00000013297; Expressed in inferior vagus X ganglion and 169 other tissues.
DR Genevisible; O75508; HS.
DR GO; GO:0030424; C:axon; IDA:ARUK-UCL.
DR GO; GO:0045178; C:basal part of cell; IEA:Ensembl.
DR GO; GO:0005923; C:bicellular tight junction; ISS:UniProtKB.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005811; C:lipid droplet; IDA:HPA.
DR GO; GO:0005883; C:neurofilament; IDA:ARUK-UCL.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0070160; C:tight junction; IDA:ARUK-UCL.
DR GO; GO:0042802; F:identical protein binding; IMP:ARUK-UCL.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR GO; GO:0008366; P:axon ensheathment; IEA:Ensembl.
DR GO; GO:0070830; P:bicellular tight junction assembly; IBA:GO_Central.
DR GO; GO:0016338; P:calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR GO; GO:0120192; P:tight junction assembly; IDA:ARUK-UCL.
DR InterPro; IPR006187; Claudin.
DR InterPro; IPR003555; Claudin11.
DR InterPro; IPR017974; Claudin_CS.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR PANTHER; PTHR12002; PTHR12002; 1.
DR PANTHER; PTHR12002:SF6; PTHR12002:SF6; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01384; CLAUDIN11.
DR PROSITE; PS01346; CLAUDIN; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cell membrane; Leukodystrophy; Membrane; Phosphoprotein;
KW Reference proteome; Tight junction; Transmembrane; Transmembrane helix.
FT CHAIN 1..207
FT /note="Claudin-11"
FT /id="PRO_0000144760"
FT TOPO_DOM 1
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2..22
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 23..82
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 104..122
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 144..157
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 158..178
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 179..207
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 197
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q60771"
FT MOD_RES 198
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q60771"
FT CONFLICT 160
FT /note="A -> T (in Ref. 3; AAV38209/AAV38210)"
FT /evidence="ECO:0000305"
FT CONFLICT 189..207
FT /note="RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPTYKRAARLPTEV
FT L (in Ref. 1; AAC25187)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 207 AA; 21993 MW; 4FF79C676FCAFA47 CRC64;
MVATCLQVVG FVTSFVGWIG VIVTTSTNDW VVTCGYTIPT CRKLDELGSK GLWADCVMAT
GLYHCKPLVD ILILPGYVQA CRALMIAASV LGLPAILLLL TVLPCIRMGQ EPGVAKYRRA
QLAGVLLILL ALCALVATIW FPVCAHRETT IVSFGYSLYA GWIGAVLCLV GGCVILCCAG
DAQAFGENRF YYTAGSSSPT HAKSAHV
