CLDN1_HUMAN
ID CLDN1_HUMAN Reviewed; 253 AA.
AC Q9NY35; B3KQR1; D3DN36; F2Z2D9; Q502Y8; Q6UVX2; Q9BUZ9; Q9NZZ5; Q9Y4S9;
DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Claudin domain-containing protein 1;
DE AltName: Full=Membrane protein GENX-3745;
GN Name=CLDND1; Synonyms=C3orf4; ORFNames=HSPC174, PSEC0054, UNQ2511/PRO6000;
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], AND TISSUE SPECIFICITY (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=12036590; DOI=10.1016/s0378-1119(02)00507-3;
RA Fayein N.-A., Stankoff B., Auffray C., Devignes M.-D.;
RT "Characterization of tissue expression and full-length coding sequence of a
RT novel human gene mapping at 3q12.1 and transcribed in oligodendrocytes.";
RL Gene 289:119-129(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Liver;
RX PubMed=11752456; DOI=10.1073/pnas.241522398;
RA Xu X.R., Huang J., Xu Z.G., Qian B.Z., Zhu Z.D., Yan Q., Cai T., Zhang X.,
RA Xiao H.S., Qu J., Liu F., Huang Q.H., Cheng Z.H., Li N.G., Du J.J., Hu W.,
RA Shen K.T., Lu G., Fu G., Zhong M., Xu S.H., Gu W.Y., Huang W., Zhao X.T.,
RA Hu G.X., Gu J.R., Chen Z., Han Z.G.;
RT "Insight into hepatocellular carcinogenesis at transcriptome level by
RT comparing gene expression profiles of hepatocellular carcinoma with those
RT of corresponding noncancerous liver.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:15089-15094(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [8]
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Eye, Hippocampus, and Spinal cord;
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 [10]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-72.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-linked
RT cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
CC -!- INTERACTION:
CC Q9NY35; P25024: CXCR1; NbExp=3; IntAct=EBI-4319704, EBI-3905522;
CC Q9NY35; Q9BZJ8: GPR61; NbExp=3; IntAct=EBI-4319704, EBI-12808020;
CC Q9NY35; Q9NPG8: ZDHHC4; NbExp=3; IntAct=EBI-4319704, EBI-20009624;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NY35-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NY35-2; Sequence=VSP_013156, VSP_013157;
CC Name=3;
CC IsoId=Q9NY35-3; Sequence=VSP_046865;
CC -!- TISSUE SPECIFICITY: Widely distributed in the adult CNS with highest
CC expression in the corpus callosum, caudate nucleus, cerebral cortex,
CC medulla, putamen, spinal cord, substantia nigra and subthalamic
CC nucleus. Weak expression was detected in the adult heart.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF29137.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ270952; CAB89684.1; -; mRNA.
DR EMBL; AF161522; AAF29137.1; ALT_INIT; mRNA.
DR EMBL; AV656305; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AY359121; AAQ89479.1; -; mRNA.
DR EMBL; AK075367; BAG52123.1; -; mRNA.
DR EMBL; AL080097; CAB45709.2; -; mRNA.
DR EMBL; AC021660; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW79856.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79857.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79859.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79860.1; -; Genomic_DNA.
DR EMBL; BC001757; AAH01757.2; -; mRNA.
DR EMBL; BC013610; AAH13610.1; -; mRNA.
DR EMBL; BC022551; AAH22551.1; -; mRNA.
DR EMBL; BC095441; AAH95441.1; -; mRNA.
DR CCDS; CCDS2930.1; -. [Q9NY35-1]
DR CCDS; CCDS43116.1; -. [Q9NY35-3]
DR RefSeq; NP_001035271.1; NM_001040181.1. [Q9NY35-1]
DR RefSeq; NP_001035272.1; NM_001040182.1.
DR RefSeq; NP_001035273.1; NM_001040183.1. [Q9NY35-1]
DR RefSeq; NP_001035289.1; NM_001040199.1. [Q9NY35-1]
DR RefSeq; NP_001035290.1; NM_001040200.1. [Q9NY35-3]
DR RefSeq; NP_063948.1; NM_019895.2. [Q9NY35-1]
DR AlphaFoldDB; Q9NY35; -.
DR BioGRID; 121164; 75.
DR IntAct; Q9NY35; 24.
DR MINT; Q9NY35; -.
DR STRING; 9606.ENSP00000421226; -.
DR TCDB; 8.A.16.2.9; the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.
DR GlyConnect; 1115; 2 N-Linked glycans (2 sites).
DR GlyGen; Q9NY35; 2 sites, 2 N-linked glycans (2 sites).
DR iPTMnet; Q9NY35; -.
DR PhosphoSitePlus; Q9NY35; -.
DR SwissPalm; Q9NY35; -.
DR BioMuta; CLDND1; -.
DR DMDM; 20532022; -.
DR EPD; Q9NY35; -.
DR jPOST; Q9NY35; -.
DR MassIVE; Q9NY35; -.
DR MaxQB; Q9NY35; -.
DR PaxDb; Q9NY35; -.
DR PeptideAtlas; Q9NY35; -.
DR PRIDE; Q9NY35; -.
DR ProteomicsDB; 23686; -.
DR ProteomicsDB; 83161; -. [Q9NY35-1]
DR ProteomicsDB; 83162; -. [Q9NY35-2]
DR Antibodypedia; 32146; 159 antibodies from 25 providers.
DR DNASU; 56650; -.
DR Ensembl; ENST00000341181.11; ENSP00000340247.6; ENSG00000080822.17. [Q9NY35-1]
DR Ensembl; ENST00000394180.6; ENSP00000377734.2; ENSG00000080822.17. [Q9NY35-1]
DR Ensembl; ENST00000394185.6; ENSP00000377739.2; ENSG00000080822.17. [Q9NY35-1]
DR Ensembl; ENST00000503004.5; ENSP00000421226.1; ENSG00000080822.17. [Q9NY35-1]
DR Ensembl; ENST00000510545.5; ENSP00000423590.1; ENSG00000080822.17. [Q9NY35-1]
DR Ensembl; ENST00000511081.5; ENSP00000424669.1; ENSG00000080822.17. [Q9NY35-3]
DR Ensembl; ENST00000513287.5; ENSP00000426869.1; ENSG00000080822.17. [Q9NY35-1]
DR GeneID; 56650; -.
DR KEGG; hsa:56650; -.
DR MANE-Select; ENST00000341181.11; ENSP00000340247.6; NM_001040181.2; NP_001035271.1.
DR UCSC; uc003dsp.4; human. [Q9NY35-1]
DR CTD; 56650; -.
DR DisGeNET; 56650; -.
DR GeneCards; CLDND1; -.
DR HGNC; HGNC:1322; CLDND1.
DR HPA; ENSG00000080822; Group enriched (brain, choroid plexus).
DR MIM; 619677; gene.
DR neXtProt; NX_Q9NY35; -.
DR OpenTargets; ENSG00000080822; -.
DR PharmGKB; PA25901; -.
DR VEuPathDB; HostDB:ENSG00000080822; -.
DR eggNOG; ENOG502QRAV; Eukaryota.
DR GeneTree; ENSGT00390000002596; -.
DR HOGENOM; CLU_071844_0_0_1; -.
DR InParanoid; Q9NY35; -.
DR OrthoDB; 1047985at2759; -.
DR PhylomeDB; Q9NY35; -.
DR PathwayCommons; Q9NY35; -.
DR SignaLink; Q9NY35; -.
DR BioGRID-ORCS; 56650; 66 hits in 1075 CRISPR screens.
DR ChiTaRS; CLDND1; human.
DR GeneWiki; CLDND1; -.
DR GenomeRNAi; 56650; -.
DR Pharos; Q9NY35; Tbio.
DR PRO; PR:Q9NY35; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9NY35; protein.
DR Bgee; ENSG00000080822; Expressed in corpus callosum and 196 other tissues.
DR ExpressionAtlas; Q9NY35; baseline and differential.
DR Genevisible; Q9NY35; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0009986; C:cell surface; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR042356; CLDN1.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR PANTHER; PTHR14347; PTHR14347; 1.
DR Pfam; PF13903; Claudin_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..253
FT /note="Claudin domain-containing protein 1"
FT /id="PRO_0000164694"
FT TRANSMEM 5..25
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 141..161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 175..195
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 216..236
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 42
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 72
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19349973"
FT VAR_SEQ 1..97
FT /note="MDNRFATAFVIACVLSLISTIYMAASIGTDFWYEYRSPVQENSSDLNKSIWD
FT EFISDEADEKTYNDALFRYNGTVGLWRRCITIPKNMHWYSPPERT -> MG (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:11752456"
FT /id="VSP_046865"
FT VAR_SEQ 181..184
FT /note="GLCT -> DTML (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_013156"
FT VAR_SEQ 185..253
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_013157"
FT CONFLICT 213
FT /note="G -> E (in Ref. 2; AAF29137)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 253 AA; 28603 MW; C6459D23B28C9885 CRC64;
MDNRFATAFV IACVLSLIST IYMAASIGTD FWYEYRSPVQ ENSSDLNKSI WDEFISDEAD
EKTYNDALFR YNGTVGLWRR CITIPKNMHW YSPPERTESF DVVTKCVSFT LTEQFMEKFV
DPGNHNSGID LLRTYLWRCQ FLLPFVSLGL MCFGALIGLC ACICRSLYPT IATGILHLLA
GLCTLGSVSC YVAGIELLHQ KLELPDNVSG EFGWSFCLAC VSAPLQFMAS ALFIWAAHTN
RKEYTLMKAY RVA
