ID PGFRL_HUMAN Reviewed; 375 AA. AC Q15198; A8K085; Q6FH04; DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1996, sequence version 1. DT 27-MAR-2024, entry version 180. DE RecName: Full=Platelet-derived growth factor receptor-like protein; DE Short=PDGFR-like protein; DE AltName: Full=PDGF receptor beta-like tumor suppressor; DE Flags: Precursor; GN Name=PDGFRL; Synonyms=PRLTS; 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], VARIANT CRC TYR-23, AND TISSUE SPECIFICITY. RC TISSUE=Fetal lung; RX PubMed=7898930; RA Fujiwara Y., Ohata H., Kuroki T., Koyama K., Tsuchiya E., Monden M., RA Nakamura Y.; RT "Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 RT that is homologous to an extracellular domain of the PDGF receptor beta RT gene."; RL Oncogene 10:891-895(1995). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Urinary bladder; 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 [4] 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; 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 GRB2 AND TNK2. RX PubMed=19815557; DOI=10.1074/jbc.m109.072660; RA Pao-Chun L., Chan P.M., Chan W., Manser E.; RT "Cytoplasmic ACK1 interaction with multiple receptor tyrosine kinases is RT mediated by Grb2: an analysis of ACK1 effects on Axl signaling."; RL J. Biol. Chem. 284:34954-34963(2009). RN [7] RP POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO BEHCET DISEASE. RX PubMed=22926996; DOI=10.1002/humu.22208; RA Hou S., Xiao X., Zhou Y., Zhu X., Li F., Kijlstra A., Yang P.; RT "Genetic variant on PDGFRL associated with Behcet disease in Chinese Han RT populations."; RL Hum. Mutat. 34:74-78(2013). CC -!- SUBUNIT: Forms a complex composed of PDGFRL, TNK2 and GRB2. CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. CC -!- TISSUE SPECIFICITY: Expressed in colon, lung and liver. CC {ECO:0000269|PubMed:7898930}. CC -!- DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease CC characterized by malignant lesions arising from the inner wall of the CC large intestine (the colon) and the rectum. Genetic alterations are CC often associated with progression from premalignant lesion (adenoma) to CC invasive adenocarcinoma. Risk factors for cancer of the colon and CC rectum include colon polyps, long-standing ulcerative colitis, and CC genetic family history. {ECO:0000269|PubMed:7898930}. Note=The gene CC represented in this entry is involved in disease pathogenesis. CC -!- DISEASE: Note=A polymorphism in PDGFRL has been reported to be CC associated with susceptibility to Behcet disease (PubMed:22926996). CC Behcet disease is a complex multiple-system disorder characterized by CC recurrent oral ulcerations, recurrent genital ulcerations, typical skin CC lesions, and uveitis. Behcet disease also involves joints, blood CC vessels, musculoskeletal, neurological systems, and the CC gastrointestinal tract. {ECO:0000269|PubMed:22926996}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D37965; BAA07179.1; -; mRNA. DR EMBL; CR541952; CAG46750.1; -; mRNA. DR EMBL; AK289450; BAF82139.1; -; mRNA. DR EMBL; CH471080; EAW63811.1; -; Genomic_DNA. DR EMBL; BC010927; AAH10927.1; -; mRNA. DR CCDS; CCDS6003.1; -. DR PIR; I60125; I60125. DR RefSeq; NP_006198.1; NM_006207.2. DR AlphaFoldDB; Q15198; -. DR BioGRID; 111183; 43. DR IntAct; Q15198; 24. DR MINT; Q15198; -. DR STRING; 9606.ENSP00000444211; -. DR TCDB; 8.A.23.1.55; the basigin (basigin) family. DR GlyConnect; 1609; 3 N-Linked glycans (1 site). DR GlyCosmos; Q15198; 2 sites, 2 glycans. DR GlyGen; Q15198; 2 sites, 2 N-linked glycans (1 site). DR iPTMnet; Q15198; -. DR PhosphoSitePlus; Q15198; -. DR BioMuta; PDGFRL; -. DR DMDM; 74762141; -. DR jPOST; Q15198; -. DR MassIVE; Q15198; -. DR PaxDb; 9606-ENSP00000444211; -. DR PeptideAtlas; Q15198; -. DR ProteomicsDB; 60488; -. DR Antibodypedia; 22286; 274 antibodies from 31 providers. DR DNASU; 5157; -. DR Ensembl; ENST00000251630.11; ENSP00000251630.4; ENSG00000104213.13. DR Ensembl; ENST00000541323.1; ENSP00000444211.1; ENSG00000104213.13. DR GeneID; 5157; -. DR KEGG; hsa:5157; -. DR MANE-Select; ENST00000251630.11; ENSP00000251630.4; NM_001372073.1; NP_001359002.1. DR UCSC; uc003wxr.3; human. DR AGR; HGNC:8805; -. DR CTD; 5157; -. DR DisGeNET; 5157; -. DR GeneCards; PDGFRL; -. DR HGNC; HGNC:8805; PDGFRL. DR HPA; ENSG00000104213; Tissue enhanced (ovary). DR MalaCards; PDGFRL; -. DR MIM; 114500; phenotype. DR MIM; 604584; gene. DR neXtProt; NX_Q15198; -. DR OpenTargets; ENSG00000104213; -. DR Orphanet; 210159; Adult hepatocellular carcinoma. DR PharmGKB; PA33149; -. DR VEuPathDB; HostDB:ENSG00000104213; -. DR eggNOG; KOG0200; Eukaryota. DR GeneTree; ENSGT00390000017153; -. DR HOGENOM; CLU_062833_0_0_1; -. DR InParanoid; Q15198; -. DR OMA; GNKIEWS; -. DR OrthoDB; 3035719at2759; -. DR PhylomeDB; Q15198; -. DR TreeFam; TF334735; -. DR PathwayCommons; Q15198; -. DR SignaLink; Q15198; -. DR BioGRID-ORCS; 5157; 10 hits in 1152 CRISPR screens. DR ChiTaRS; PDGFRL; human. DR GenomeRNAi; 5157; -. DR Pharos; Q15198; Tbio. DR PRO; PR:Q15198; -. DR Proteomes; UP000005640; Chromosome 8. DR RNAct; Q15198; Protein. DR Bgee; ENSG00000104213; Expressed in pericardium and 166 other cell types or tissues. DR ExpressionAtlas; Q15198; baseline and differential. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0004992; F:platelet activating factor receptor activity; TAS:ProtInc. DR GO; GO:0005019; F:platelet-derived growth factor beta-receptor activity; TAS:ProtInc. DR Gene3D; 2.60.40.10; Immunoglobulins; 3. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR003599; Ig_sub. DR InterPro; IPR003598; Ig_sub2. DR InterPro; IPR042495; PDGFRL. DR PANTHER; PTHR15360; PLATELET-DERIVED GROWTH FACTOR RECEPTOR LIKE; 1. DR PANTHER; PTHR15360:SF1; PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE PROTEIN; 1. DR Pfam; PF13927; Ig_3; 1. DR Pfam; PF21339; VEGFR-1-like_Ig-like; 1. DR SMART; SM00409; IG; 2. DR SMART; SM00408; IGc2; 2. DR SUPFAM; SSF48726; Immunoglobulin; 3. DR PROSITE; PS50835; IG_LIKE; 2. DR Genevisible; Q15198; HS. PE 1: Evidence at protein level; KW Disease variant; Disulfide bond; Glycoprotein; Immunoglobulin domain; KW Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1..21 FT /evidence="ECO:0000255" FT CHAIN 22..375 FT /note="Platelet-derived growth factor receptor-like FT protein" FT /id="PRO_0000233090" FT DOMAIN 62..159 FT /note="Ig-like C2-type 1" FT DOMAIN 272..375 FT /note="Ig-like C2-type 2" FT REGION 22..64 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 22..58 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 132 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 219 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 96..143 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114" FT DISULFID 293..357 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114" FT VARIANT 23 FT /note="H -> Y (in CRC; somatic mutation; FT dbSNP:rs137853148)" FT /evidence="ECO:0000269|PubMed:7898930" FT /id="VAR_026052" FT CONFLICT 227 FT /note="M -> I (in Ref. 2; CAG46750)" FT /evidence="ECO:0000305" SQ SEQUENCE 375 AA; 41861 MW; DF7FE6EB3FB2A802 CRC64; MKVWLLLGLL LVHEALEDVT GQHLPKNKRP KEPGENRIKP TNKKVKPKIP KMKDRDSANS APKTQSIMMQ VLDKGRFQKP AATLSLLAGQ TVELRCKGSR IGWSYPAYLD TFKDSRLSVK QNERYGQLTL VNSTSADTGE FSCWVQLCSG YICRKDEAKT GSTYIFFTEK GELFVPSPSY FDVVYLNPDR QAVVPCRVTV LSAKVTLHRE FPAKEIPANG TDIVYDMKRG FVYLQPHSEH QGVVYCRAEA GGRSQISVKY QLLYVAVPSG PPSTTILASS NKVKSGDDIS VLCTVLGEPD VEVEFTWIFP GQKDERPVTI QDTWRLIHRG LGHTTRISQS VITVEDFETI DAGYYICTAQ NLQGQTTVAT TVEFS //