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Plexin domain-containing protein 1 (Tumor endothelial marker 3) (Tumor endothelial marker 7)

 PLDX1_HUMAN             Reviewed;         500 AA.
Q8IUK5; B2R7I8; Q5QCZ7; Q5QCZ8; Q5QCZ9; Q9HCT9;
18-APR-2006, integrated into UniProtKB/Swiss-Prot.
18-APR-2006, sequence version 2.
25-OCT-2017, entry version 112.
RecName: Full=Plexin domain-containing protein 1;
AltName: Full=Tumor endothelial marker 3;
AltName: Full=Tumor endothelial marker 7;
Flags: Precursor;
Name=PLXDC1; Synonyms=TEM3, TEM7;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Endothelial cell;
PubMed=10947988; DOI=10.1126/science.289.5482.1197;
St Croix B., Rago C., Velculescu V.E., Traverso G., Romans K.E.,
Montgomery E., Lal A., Riggins G.J., Lengauer C., Vogelstein B.,
Kinzler K.W.;
"Genes expressed in human tumor endothelium.";
Science 289:1197-1202(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
ALTERNATIVE SPLICING.
PubMed=11559528;
Carson-Walter E.B., Watkins D.N., Nanda A., Vogelstein B.,
Kinzler K.W., St Croix B.;
"Cell surface tumor endothelial markers are conserved in mice and
humans.";
Cancer Res. 61:6649-6655(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), SUBCELLULAR
LOCATION, AND GLYCOSYLATION.
PubMed=15574754; DOI=10.1158/0008-5472.CAN-04-2716;
Nanda A., Buckhaults P., Seaman S., Agrawal N., Boutin P.,
Shankara S., Nacht M., Teicher B., Stampfl J., Singh S.,
Vogelstein B., Kinzler K.W., St Croix B.;
"Identification of a binding partner for the endothelial cell surface
proteins TEM7 and TEM7R.";
Cancer Res. 64:8507-8511(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
HIS-462.
TISSUE=Cerebellum;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
INTERACTION WITH NID1.
PubMed=16574105; DOI=10.1016/j.febslet.2006.03.033;
Lee H.K., Seo I.A., Park H.K., Park H.T.;
"Identification of the basement membrane protein nidogen as a
candidate ligand for tumor endothelial marker 7 in vitro and in
vivo.";
FEBS Lett. 580:2253-2257(2006).
[7]
TISSUE SPECIFICITY.
PubMed=17560052; DOI=10.1016/j.gene.2007.05.003;
Fuchs B., Mahlum E., Halder C., Maran A., Yaszemski M., Bode B.,
Bolander M., Sarkar G.;
"High expression of tumor endothelial marker 7 is associated with
metastasis and poor survival of patients with osteogenic sarcoma.";
Gene 399:137-143(2007).
[8]
TISSUE SPECIFICITY, AND ALTERNATIVE SPLICING.
PubMed=18316703; DOI=10.1167/iovs.07-1249;
Yamaji Y., Yoshida S., Ishikawa K., Sengoku A., Sato K., Yoshida A.,
Kuwahara R., Ohuchida K., Oki E., Enaida H., Fujisawa K., Kono T.,
Ishibashi T.;
"TEM7 (PLXDC1) in neovascular endothelial cells of fibrovascular
membranes from patients with proliferative diabetic retinopathy.";
Invest. Ophthalmol. Vis. Sci. 49:3151-3157(2008).
-!- FUNCTION: Plays a critical role in endothelial cell capillary
morphogenesis. {ECO:0000250}.
-!- SUBUNIT: Interacts with NID1. May interact with CTTN.
{ECO:0000269|PubMed:16574105}.
-!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I
membrane protein. Cell junction, tight junction. Note=Localized
predominantly at the tight junctions of vascular endothelial cells
and to a lesser extent at the luminal surface of vascular
endothelial cells.
-!- SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=TEM7-M;
IsoId=Q8IUK5-1; Sequence=Displayed;
Name=2; Synonyms=TEM7-S1;
IsoId=Q8IUK5-2; Sequence=VSP_017972, VSP_017974;
Name=3; Synonyms=TEM7-S2;
IsoId=Q8IUK5-3; Sequence=VSP_017971, VSP_017973;
Name=4; Synonyms=TEM7-I;
IsoId=Q8IUK5-4; Sequence=VSP_017970, VSP_017972;
-!- TISSUE SPECIFICITY: Detected in endothelial cells from colorectal
cancer, and in endothelial cells from primary cancers of the lung,
liver, pancreas, breast and brain. Not detectable in endothelial
cells from normal tissue. Expressed in fibrovascular membrane with
increased expression in individuals with proliferative diabetic
retinopathy. {ECO:0000269|PubMed:10947988,
ECO:0000269|PubMed:11559528, ECO:0000269|PubMed:17560052,
ECO:0000269|PubMed:18316703}.
-!- PTM: N-glycosylated. {ECO:0000269|PubMed:15574754}.
-!- SIMILARITY: Belongs to the plexin family. {ECO:0000305}.
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EMBL; AF279144; AAG00869.2; -; mRNA.
EMBL; AF378753; AAL11990.1; -; mRNA.
EMBL; AY704670; AAV85657.1; -; mRNA.
EMBL; AY704671; AAV85658.1; -; mRNA.
EMBL; AY704672; AAV85659.1; -; mRNA.
EMBL; AK312999; BAG35835.1; -; mRNA.
EMBL; BC036059; AAH36059.1; -; mRNA.
CCDS; CCDS11333.1; -. [Q8IUK5-1]
RefSeq; NP_065138.2; NM_020405.4. [Q8IUK5-1]
UniGene; Hs.125036; -.
ProteinModelPortal; Q8IUK5; -.
BioGrid; 121388; 1.
STRING; 9606.ENSP00000323927; -.
iPTMnet; Q8IUK5; -.
PhosphoSitePlus; Q8IUK5; -.
BioMuta; PLXDC1; -.
DMDM; 93140676; -.
PaxDb; Q8IUK5; -.
PeptideAtlas; Q8IUK5; -.
PRIDE; Q8IUK5; -.
DNASU; 57125; -.
Ensembl; ENST00000315392; ENSP00000323927; ENSG00000161381. [Q8IUK5-1]
Ensembl; ENST00000578390; ENSP00000462089; ENSG00000161381. [Q8IUK5-3]
GeneID; 57125; -.
KEGG; hsa:57125; -.
UCSC; uc002hrg.2; human. [Q8IUK5-1]
CTD; 57125; -.
DisGeNET; 57125; -.
EuPathDB; HostDB:ENSG00000161381.13; -.
GeneCards; PLXDC1; -.
HGNC; HGNC:20945; PLXDC1.
HPA; HPA012805; -.
MIM; 606826; gene.
neXtProt; NX_Q8IUK5; -.
OpenTargets; ENSG00000161381; -.
PharmGKB; PA134990658; -.
eggNOG; KOG3848; Eukaryota.
eggNOG; ENOG410Y7ZQ; LUCA.
GeneTree; ENSGT00440000033408; -.
HOGENOM; HOG000234044; -.
HOVERGEN; HBG079500; -.
InParanoid; Q8IUK5; -.
OMA; VEDNHSY; -.
OrthoDB; EOG091G0827; -.
PhylomeDB; Q8IUK5; -.
TreeFam; TF314400; -.
GeneWiki; PLXDC1; -.
GenomeRNAi; 57125; -.
PRO; PR:Q8IUK5; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000161381; -.
CleanEx; HS_PLXDC1; -.
ExpressionAtlas; Q8IUK5; baseline and differential.
Genevisible; Q8IUK5; HS.
GO; GO:0005923; C:bicellular tight junction; IEA:UniProtKB-SubCell.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0030425; C:dendrite; IEA:Ensembl.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005615; C:extracellular space; NAS:UniProtKB.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005622; C:intracellular; NAS:UniProtKB.
GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
GO; GO:0005886; C:plasma membrane; NAS:UniProtKB.
GO; GO:0043235; C:receptor complex; IDA:MGI.
GO; GO:0001525; P:angiogenesis; NAS:UniProtKB.
GO; GO:0021510; P:spinal cord development; IEA:Ensembl.
InterPro; IPR002165; Plexin_repeat.
InterPro; IPR031152; PLXDC.
InterPro; IPR031153; PLXDC1.
PANTHER; PTHR13055; PTHR13055; 1.
PANTHER; PTHR13055:SF10; PTHR13055:SF10; 1.
Pfam; PF01437; PSI; 1.
1: Evidence at protein level;
Alternative splicing; Cell junction; Cell membrane; Complete proteome;
Cytoplasm; Glycoprotein; Membrane; Polymorphism; Reference proteome;
Secreted; Signal; Tight junction; Transmembrane; Transmembrane helix.
SIGNAL 1 18 {ECO:0000255}.
CHAIN 19 500 Plexin domain-containing protein 1.
/FTId=PRO_0000232751.
TOPO_DOM 19 426 Extracellular. {ECO:0000255}.
TRANSMEM 427 447 Helical. {ECO:0000255}.
TOPO_DOM 448 500 Cytoplasmic. {ECO:0000255}.
CARBOHYD 80 80 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 197 197 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 73 Missing (in isoform 4).
{ECO:0000303|PubMed:15574754}.
/FTId=VSP_017970.
VAR_SEQ 330 337 RCSSGFDR -> SRDEVSPC (in isoform 3).
{ECO:0000303|PubMed:15574754}.
/FTId=VSP_017971.
VAR_SEQ 331 358 CSSGFDRYRQEWMDYGCAQEAEGRMCED -> SLNNQDENT
YVNCLDSQQCHGSSESRRP (in isoform 2 and
isoform 4).
{ECO:0000303|PubMed:15574754}.
/FTId=VSP_017972.
VAR_SEQ 338 500 Missing (in isoform 3).
{ECO:0000303|PubMed:15574754}.
/FTId=VSP_017973.
VAR_SEQ 359 500 Missing (in isoform 2).
{ECO:0000303|PubMed:15574754}.
/FTId=VSP_017974.
VARIANT 462 462 R -> H (in dbSNP:rs75117355).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_064050.
CONFLICT 153 153 I -> M (in Ref. 5; AAH36059).
{ECO:0000305}.
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


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