PLDX1_HUMAN
ID PLDX1_HUMAN Reviewed; 500 AA.
AC Q8IUK5; B2R7I8; Q5QCZ7; Q5QCZ8; Q5QCZ9; Q9HCT9;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-APR-2006, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Plexin domain-containing protein 1;
DE AltName: Full=Tumor endothelial marker 3;
DE AltName: Full=Tumor endothelial marker 7;
DE Flags: Precursor;
GN Name=PLXDC1; Synonyms=TEM3, TEM7;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Endothelial cell;
RX PubMed=10947988; DOI=10.1126/science.289.5482.1197;
RA St Croix B., Rago C., Velculescu V.E., Traverso G., Romans K.E.,
RA Montgomery E., Lal A., Riggins G.J., Lengauer C., Vogelstein B.,
RA Kinzler K.W.;
RT "Genes expressed in human tumor endothelium.";
RL Science 289:1197-1202(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND ALTERNATIVE
RP SPLICING.
RX PubMed=11559528;
RA Carson-Walter E.B., Watkins D.N., Nanda A., Vogelstein B., Kinzler K.W.,
RA St Croix B.;
RT "Cell surface tumor endothelial markers are conserved in mice and humans.";
RL Cancer Res. 61:6649-6655(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), SUBCELLULAR LOCATION, AND
RP GLYCOSYLATION.
RX PubMed=15574754; DOI=10.1158/0008-5472.can-04-2716;
RA Nanda A., Buckhaults P., Seaman S., Agrawal N., Boutin P., Shankara S.,
RA Nacht M., Teicher B., Stampfl J., Singh S., Vogelstein B., Kinzler K.W.,
RA St Croix B.;
RT "Identification of a binding partner for the endothelial cell surface
RT proteins TEM7 and TEM7R.";
RL Cancer Res. 64:8507-8511(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT HIS-462.
RC TISSUE=Cerebellum;
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 MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [6]
RP INTERACTION WITH NID1.
RX PubMed=16574105; DOI=10.1016/j.febslet.2006.03.033;
RA Lee H.K., Seo I.A., Park H.K., Park H.T.;
RT "Identification of the basement membrane protein nidogen as a candidate
RT ligand for tumor endothelial marker 7 in vitro and in vivo.";
RL FEBS Lett. 580:2253-2257(2006).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=17560052; DOI=10.1016/j.gene.2007.05.003;
RA Fuchs B., Mahlum E., Halder C., Maran A., Yaszemski M., Bode B.,
RA Bolander M., Sarkar G.;
RT "High expression of tumor endothelial marker 7 is associated with
RT metastasis and poor survival of patients with osteogenic sarcoma.";
RL Gene 399:137-143(2007).
RN [8]
RP TISSUE SPECIFICITY, AND ALTERNATIVE SPLICING.
RX PubMed=18316703; DOI=10.1167/iovs.07-1249;
RA Yamaji Y., Yoshida S., Ishikawa K., Sengoku A., Sato K., Yoshida A.,
RA Kuwahara R., Ohuchida K., Oki E., Enaida H., Fujisawa K., Kono T.,
RA Ishibashi T.;
RT "TEM7 (PLXDC1) in neovascular endothelial cells of fibrovascular membranes
RT from patients with proliferative diabetic retinopathy.";
RL Invest. Ophthalmol. Vis. Sci. 49:3151-3157(2008).
CC -!- FUNCTION: Plays a critical role in endothelial cell capillary
CC morphogenesis. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with NID1. May interact with CTTN.
CC {ECO:0000269|PubMed:16574105}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type I
CC membrane protein. Cell junction, tight junction. Note=Localized
CC predominantly at the tight junctions of vascular endothelial cells and
CC to a lesser extent at the luminal surface of vascular endothelial
CC cells.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=TEM7-M;
CC IsoId=Q8IUK5-1; Sequence=Displayed;
CC Name=2; Synonyms=TEM7-S1;
CC IsoId=Q8IUK5-2; Sequence=VSP_017972, VSP_017974;
CC Name=3; Synonyms=TEM7-S2;
CC IsoId=Q8IUK5-3; Sequence=VSP_017971, VSP_017973;
CC Name=4; Synonyms=TEM7-I;
CC IsoId=Q8IUK5-4; Sequence=VSP_017970, VSP_017972;
CC -!- TISSUE SPECIFICITY: Detected in endothelial cells from colorectal
CC cancer, and in endothelial cells from primary cancers of the lung,
CC liver, pancreas, breast and brain. Not detectable in endothelial cells
CC from normal tissue. Expressed in fibrovascular membrane with increased
CC expression in individuals with proliferative diabetic retinopathy.
CC {ECO:0000269|PubMed:10947988, ECO:0000269|PubMed:11559528,
CC ECO:0000269|PubMed:17560052, ECO:0000269|PubMed:18316703}.
CC -!- PTM: N-glycosylated. {ECO:0000269|PubMed:15574754}.
CC -!- SIMILARITY: Belongs to the plexin family. {ECO:0000305}.
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DR EMBL; AF279144; AAG00869.2; -; mRNA.
DR EMBL; AF378753; AAL11990.1; -; mRNA.
DR EMBL; AY704670; AAV85657.1; -; mRNA.
DR EMBL; AY704671; AAV85658.1; -; mRNA.
DR EMBL; AY704672; AAV85659.1; -; mRNA.
DR EMBL; AK312999; BAG35835.1; -; mRNA.
DR EMBL; BC036059; AAH36059.1; -; mRNA.
DR CCDS; CCDS11333.1; -. [Q8IUK5-1]
DR RefSeq; NP_065138.2; NM_020405.4. [Q8IUK5-1]
DR AlphaFoldDB; Q8IUK5; -.
DR SMR; Q8IUK5; -.
DR BioGRID; 121388; 5.
DR IntAct; Q8IUK5; 3.
DR MINT; Q8IUK5; -.
DR STRING; 9606.ENSP00000323927; -.
DR GlyGen; Q8IUK5; 4 sites, 3 O-linked glycans (2 sites).
DR iPTMnet; Q8IUK5; -.
DR PhosphoSitePlus; Q8IUK5; -.
DR BioMuta; PLXDC1; -.
DR DMDM; 93140676; -.
DR jPOST; Q8IUK5; -.
DR MassIVE; Q8IUK5; -.
DR PaxDb; Q8IUK5; -.
DR PeptideAtlas; Q8IUK5; -.
DR PRIDE; Q8IUK5; -.
DR ProteomicsDB; 70578; -. [Q8IUK5-1]
DR ProteomicsDB; 70579; -. [Q8IUK5-2]
DR ProteomicsDB; 70580; -. [Q8IUK5-3]
DR ProteomicsDB; 70581; -. [Q8IUK5-4]
DR Antibodypedia; 2551; 357 antibodies from 29 providers.
DR DNASU; 57125; -.
DR Ensembl; ENST00000315392.9; ENSP00000323927.4; ENSG00000161381.14. [Q8IUK5-1]
DR Ensembl; ENST00000578390.5; ENSP00000462089.1; ENSG00000161381.14. [Q8IUK5-3]
DR GeneID; 57125; -.
DR KEGG; hsa:57125; -.
DR MANE-Select; ENST00000315392.9; ENSP00000323927.4; NM_020405.5; NP_065138.2.
DR UCSC; uc002hrg.2; human. [Q8IUK5-1]
DR CTD; 57125; -.
DR DisGeNET; 57125; -.
DR GeneCards; PLXDC1; -.
DR HGNC; HGNC:20945; PLXDC1.
DR HPA; ENSG00000161381; Tissue enhanced (retina).
DR MIM; 606826; gene.
DR neXtProt; NX_Q8IUK5; -.
DR OpenTargets; ENSG00000161381; -.
DR PharmGKB; PA134990658; -.
DR VEuPathDB; HostDB:ENSG00000161381; -.
DR eggNOG; KOG3848; Eukaryota.
DR GeneTree; ENSGT00440000033408; -.
DR HOGENOM; CLU_029494_3_1_1; -.
DR InParanoid; Q8IUK5; -.
DR OMA; GFLFMGD; -.
DR OrthoDB; 1361987at2759; -.
DR PhylomeDB; Q8IUK5; -.
DR TreeFam; TF314400; -.
DR PathwayCommons; Q8IUK5; -.
DR SignaLink; Q8IUK5; -.
DR BioGRID-ORCS; 57125; 15 hits in 1071 CRISPR screens.
DR ChiTaRS; PLXDC1; human.
DR GeneWiki; PLXDC1; -.
DR GenomeRNAi; 57125; -.
DR Pharos; Q8IUK5; Tbio.
DR PRO; PR:Q8IUK5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IUK5; protein.
DR Bgee; ENSG00000161381; Expressed in apex of heart and 189 other tissues.
DR ExpressionAtlas; Q8IUK5; baseline and differential.
DR Genevisible; Q8IUK5; HS.
DR GO; GO:0005923; C:bicellular tight junction; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005615; C:extracellular space; NAS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; NAS:UniProtKB.
DR GO; GO:0043235; C:receptor complex; IDA:MGI.
DR GO; GO:0001525; P:angiogenesis; NAS:UniProtKB.
DR GO; GO:0021510; P:spinal cord development; IEA:Ensembl.
DR InterPro; IPR002165; Plexin_repeat.
DR InterPro; IPR031152; PLXDC.
DR InterPro; IPR031153; PLXDC1.
DR PANTHER; PTHR13055; PTHR13055; 1.
DR PANTHER; PTHR13055:SF10; PTHR13055:SF10; 1.
DR Pfam; PF01437; PSI; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell junction; Cell membrane; Cytoplasm;
KW Glycoprotein; Membrane; Reference proteome; Secreted; Signal;
KW Tight junction; Transmembrane; Transmembrane helix.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..500
FT /note="Plexin domain-containing protein 1"
FT /id="PRO_0000232751"
FT TOPO_DOM 19..426
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 427..447
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 448..500
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 20..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 46..78
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 359..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 479..500
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 80
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 197
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15574754"
FT /id="VSP_017970"
FT VAR_SEQ 330..337
FT /note="RCSSGFDR -> SRDEVSPC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15574754"
FT /id="VSP_017971"
FT VAR_SEQ 331..358
FT /note="CSSGFDRYRQEWMDYGCAQEAEGRMCED -> SLNNQDENTYVNCLDSQQCH
FT GSSESRRP (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15574754"
FT /id="VSP_017972"
FT VAR_SEQ 338..500
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15574754"
FT /id="VSP_017973"
FT VAR_SEQ 359..500
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15574754"
FT /id="VSP_017974"
FT VARIANT 462
FT /note="R -> H (in dbSNP:rs75117355)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_064050"
FT CONFLICT 153
FT /note="I -> M (in Ref. 5; AAH36059)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 500 AA; 55760 MW; C545A16619EEDBED CRC64;
MRGELWLLVL VLREAARALS PQPGAGHDEG PGSGWAAKGT VRGWNRRARE SPGHVSEPDR
TQLSQDLGGG TLAMDTLPDN RTRVVEDNHS YYVSRLYGPS EPHSRELWVD VAEANRSQVK
IHTILSNTHR QASRVVLSFD FPFYGHPLRQ ITIATGGFIF MGDVIHRMLT ATQYVAPLMA
NFNPGYSDNS TVVYFDNGTV FVVQWDHVYL QGWEDKGSFT FQAALHHDGR IVFAYKEIPM
SVPEISSSQH PVKTGLSDAF MILNPSPDVP ESRRRSIFEY HRIELDPSKV TSMSAVEFTP
LPTCLQHRSC DACMSSDLTF NCSWCHVLQR CSSGFDRYRQ EWMDYGCAQE AEGRMCEDFQ
DEDHDSASPD TSFSPYDGDL TTTSSSLFID SLTTEDDTKL NPYAGGDGLQ NNLSPKTKGT
PVHLGTIVGI VLAVLLVAAI ILAGIYINGH PTSNAALFFI ERRPHHWPAM KFRSHPDHST
YAEVEPSGHE KEGFMEAEQC
