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Protein

Platelet-derived growth factor receptor-like protein

Gene

PDGFRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

EuPathDBiHostDB:ENSG00000104213.12
HGNCiHGNC:8805 PDGFRL
MIMi604584 gene
neXtProtiNX_Q15198

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02605223H → Y in CRC; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137853148EnsemblClinVar.1
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.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5157
MalaCardsiPDGFRL
MIMi114500 phenotype
OpenTargetsiENSG00000104213
PharmGKBiPA33149

Polymorphism and mutation databases

BioMutaiPDGFRL
DMDMi74762141

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000023309022 – 375Platelet-derived growth factor receptor-like proteinAdd BLAST354

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi96 ↔ 143PROSITE-ProRule annotation
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi219N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi293 ↔ 357PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ15198
PeptideAtlasiQ15198
PRIDEiQ15198
ProteomicsDBi60488

PTM databases

iPTMnetiQ15198
PhosphoSitePlusiQ15198

Expressioni

Tissue specificityi

Expressed in colon, lung and liver.1 Publication

Gene expression databases

BgeeiENSG00000104213
CleanExiHS_PDGFRL
GenevisibleiQ15198 HS

Organism-specific databases

HPAiHPA052801

Interactioni

Subunit structurei

Forms a complex composed of PDGFRL, TNK2 and GRB2.

Protein-protein interaction databases

BioGridi111183, 13 interactors
IntActiQ15198, 24 interactors
MINTiQ15198
STRINGi9606.ENSP00000251630

Structurei

3D structure databases

ProteinModelPortaliQ15198
SMRiQ15198
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini62 – 159Ig-like C2-type 1Add BLAST98
Domaini272 – 375Ig-like C2-type 2Add BLAST104

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0200 Eukaryota
COG0515 LUCA
GeneTreeiENSGT00390000017153
HOGENOMiHOG000012984
HOVERGENiHBG053893
InParanoidiQ15198
OMAiKGRFQKP
OrthoDBiEOG091G09SI
PhylomeDBiQ15198
TreeFamiTF334735

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
SMARTiView protein in SMART
SM00409 IG, 2 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 3 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti227M → I in CAG46750 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02605223H → Y in CRC; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137853148EnsemblClinVar.1

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
UniGeneiHs.458573

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiPGFRL_HUMAN
AccessioniPrimary (citable) accession number: Q15198
Secondary accession number(s): A8K085, Q6FH04
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: November 1, 1996
Last modified: June 20, 2018
This is version 148 of the entry and version 1 of the sequence. See 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

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