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Protein

Platelet-derived growth factor receptor-like protein

Gene

PDGFRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • platelet activating factor receptor activity Source: ProtInc
  • platelet-derived growth factor beta-receptor activity Source: ProtInc

GO - Biological processi

  • G-protein coupled receptor signaling pathway Source: GOC
  • platelet-derived growth factor receptor-beta signaling pathway Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Platelet-derived growth factor receptor-like protein
Short name:
PDGFR-like protein
Alternative name(s):
PDGF receptor beta-like tumor suppressor
Gene namesi
Name:PDGFRL
Synonyms:PRLTS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:8805. PDGFRL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Colorectal cancer (CRC)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
See also OMIM:114500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231H → Y in CRC; somatic mutation. 1 Publication
VAR_026052

A polymorphism in PDGFRL has been reported to be associated with susceptibility to Behcet disease (PubMed:22926996). Behcet disease is a complex multiple-system disorder characterized by recurrent oral ulcerations, recurrent genital ulcerations, typical skin lesions, and uveitis. Behcet disease also involves joints, blood vessels, musculoskeletal, neurological systems, and the gastrointestinal tract.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPDGFRL.
MIMi114500. phenotype.
PharmGKBiPA33149.

Polymorphism and mutation databases

BioMutaiPDGFRL.
DMDMi74762141.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysisAdd
BLAST
Chaini22 – 375354Platelet-derived growth factor receptor-like proteinPRO_0000233090Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi96 ↔ 143PROSITE-ProRule annotation
Glycosylationi132 – 1321N-linked (GlcNAc...)Sequence analysis
Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence analysis
Disulfide bondi293 ↔ 357PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ15198.
PRIDEiQ15198.

PTM databases

iPTMnetiQ15198.
PhosphoSiteiQ15198.

Expressioni

Tissue specificityi

Expressed in colon, lung and liver.1 Publication

Gene expression databases

BgeeiQ15198.
CleanExiHS_PDGFRL.
GenevisibleiQ15198. HS.

Interactioni

Subunit structurei

Forms a complex composed of PDGFRL, TNK2 and GRB2.

Protein-protein interaction databases

IntActiQ15198. 24 interactions.
STRINGi9606.ENSP00000251630.

Structurei

3D structure databases

ProteinModelPortaliQ15198.
SMRiQ15198. Positions 88-373.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 15998Ig-like C2-type 1Add
BLAST
Domaini272 – 375104Ig-like C2-type 2Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0200. Eukaryota.
COG0515. LUCA.
GeneTreeiENSGT00390000017153.
HOGENOMiHOG000012984.
HOVERGENiHBG053893.
InParanoidiQ15198.
OMAiICTAQNL.
OrthoDBiEOG7QNVM6.
PhylomeDBiQ15198.
TreeFamiTF334735.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 3 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15198-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKVWLLLGLL LVHEALEDVT GQHLPKNKRP KEPGENRIKP TNKKVKPKIP
60 70 80 90 100
KMKDRDSANS APKTQSIMMQ VLDKGRFQKP AATLSLLAGQ TVELRCKGSR
110 120 130 140 150
IGWSYPAYLD TFKDSRLSVK QNERYGQLTL VNSTSADTGE FSCWVQLCSG
160 170 180 190 200
YICRKDEAKT GSTYIFFTEK GELFVPSPSY FDVVYLNPDR QAVVPCRVTV
210 220 230 240 250
LSAKVTLHRE FPAKEIPANG TDIVYDMKRG FVYLQPHSEH QGVVYCRAEA
260 270 280 290 300
GGRSQISVKY QLLYVAVPSG PPSTTILASS NKVKSGDDIS VLCTVLGEPD
310 320 330 340 350
VEVEFTWIFP GQKDERPVTI QDTWRLIHRG LGHTTRISQS VITVEDFETI
360 370
DAGYYICTAQ NLQGQTTVAT TVEFS
Length:375
Mass (Da):41,861
Last modified:November 1, 1996 - v1
Checksum:iDF7FE6EB3FB2A802
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti227 – 2271M → I in CAG46750 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231H → Y in CRC; somatic mutation. 1 Publication
VAR_026052

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D37965 mRNA. Translation: BAA07179.1.
CR541952 mRNA. Translation: CAG46750.1.
AK289450 mRNA. Translation: BAF82139.1.
CH471080 Genomic DNA. Translation: EAW63811.1.
BC010927 mRNA. Translation: AAH10927.1.
CCDSiCCDS6003.1.
PIRiI60125.
RefSeqiNP_006198.1. NM_006207.2.
XP_011542860.1. XM_011544558.1.
UniGeneiHs.458573.

Genome annotation databases

EnsembliENST00000251630; ENSP00000251630; ENSG00000104213.
ENST00000541323; ENSP00000444211; ENSG00000104213.
GeneIDi5157.
KEGGihsa:5157.
UCSCiuc003wxr.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D37965 mRNA. Translation: BAA07179.1.
CR541952 mRNA. Translation: CAG46750.1.
AK289450 mRNA. Translation: BAF82139.1.
CH471080 Genomic DNA. Translation: EAW63811.1.
BC010927 mRNA. Translation: AAH10927.1.
CCDSiCCDS6003.1.
PIRiI60125.
RefSeqiNP_006198.1. NM_006207.2.
XP_011542860.1. XM_011544558.1.
UniGeneiHs.458573.

3D structure databases

ProteinModelPortaliQ15198.
SMRiQ15198. Positions 88-373.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ15198. 24 interactions.
STRINGi9606.ENSP00000251630.

PTM databases

iPTMnetiQ15198.
PhosphoSiteiQ15198.

Polymorphism and mutation databases

BioMutaiPDGFRL.
DMDMi74762141.

Proteomic databases

PaxDbiQ15198.
PRIDEiQ15198.

Protocols and materials databases

DNASUi5157.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251630; ENSP00000251630; ENSG00000104213.
ENST00000541323; ENSP00000444211; ENSG00000104213.
GeneIDi5157.
KEGGihsa:5157.
UCSCiuc003wxr.3. human.

Organism-specific databases

CTDi5157.
GeneCardsiPDGFRL.
HGNCiHGNC:8805. PDGFRL.
MalaCardsiPDGFRL.
MIMi114500. phenotype.
604584. gene.
neXtProtiNX_Q15198.
PharmGKBiPA33149.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0200. Eukaryota.
COG0515. LUCA.
GeneTreeiENSGT00390000017153.
HOGENOMiHOG000012984.
HOVERGENiHBG053893.
InParanoidiQ15198.
OMAiICTAQNL.
OrthoDBiEOG7QNVM6.
PhylomeDBiQ15198.
TreeFamiTF334735.

Miscellaneous databases

ChiTaRSiPDGFRL. human.
GenomeRNAii5157.
NextBioi19950.
PROiQ15198.
SOURCEiSearch...

Gene expression databases

BgeeiQ15198.
CleanExiHS_PDGFRL.
GenevisibleiQ15198. HS.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 3 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene."
    Fujiwara Y., Ohata H., Kuroki T., Koyama K., Tsuchiya E., Monden M., Nakamura Y.
    Oncogene 10:891-895(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CRC TYR-23, TISSUE SPECIFICITY.
    Tissue: Fetal lung.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Urinary bladder.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "Cytoplasmic ACK1 interaction with multiple receptor tyrosine kinases is mediated by Grb2: an analysis of ACK1 effects on Axl signaling."
    Pao-Chun L., Chan P.M., Chan W., Manser E.
    J. Biol. Chem. 284:34954-34963(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GRB2 AND TNK2.
  7. "Genetic variant on PDGFRL associated with Behcet disease in Chinese Han populations."
    Hou S., Xiao X., Zhou Y., Zhu X., Li F., Kijlstra A., Yang P.
    Hum. Mutat. 34:74-78(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO BEHCET DISEASE.

Entry informationi

Entry nameiPGFRL_HUMAN
AccessioniPrimary (citable) accession number: Q15198
Secondary accession number(s): A8K085, Q6FH04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: November 1, 1996
Last modified: May 11, 2016
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.