PGFRL_HUMAN
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 03-AUG-2022, entry version 171.
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}.
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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 GlyConnect; 1609; 3 N-Linked glycans (1 site).
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; Q15198; -.
DR PeptideAtlas; Q15198; -.
DR PRIDE; Q15198; -.
DR ProteomicsDB; 60488; -.
DR Antibodypedia; 22286; 260 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 CTD; 5157; -.
DR DisGeNET; 5157; -.
DR GeneCards; PDGFRL; -.
DR HGNC; HGNC:8805; PDGFRL.
DR HPA; ENSG00000104213; Low tissue specificity.
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; HSDHQGV; -.
DR OrthoDB; 825016at2759; -.
DR PhylomeDB; Q15198; -.
DR TreeFam; TF334735; -.
DR PathwayCommons; Q15198; -.
DR SignaLink; Q15198; -.
DR BioGRID-ORCS; 5157; 10 hits in 1074 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 165 other tissues.
DR ExpressionAtlas; Q15198; baseline and differential.
DR Genevisible; Q15198; HS.
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; -; 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:SF1; PTHR15360:SF1; 1.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR SUPFAM; SSF48726; SSF48726; 3.
DR PROSITE; PS50835; IG_LIKE; 2.
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
