Reviewed,
UniProtKB/Swiss-Prot Q15198 (PGFRL_HUMAN)
Last modified
November 25, 2008.
Version 67.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Platelet-derived growth factor receptor-like protein Alternative name(s): PDGF receptor beta-like tumor suppressor | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 375 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | SecretedProbable. |
| Tissue specificity | Expressed in colon, lung and liver. |
| Involvement in disease | Defects in PDGFRL are associated with colorectal cancer (CRC) [MIM:114500]. |
| Sequence similarities | Contains 2 Ig-like C2-type (immunoglobulin-like) domains. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Secreted |
| Disease | Disease mutation |
| Domain | Immunoglobulin domain Repeat Signal |
| PTM | Glycoprotein |
Gene Ontology (GO) | |
| Cellular component | extracellular region Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | platelet activating factor receptor activity Ref.1 Traceable author statement. Source: ProtInc platelet-derived growth factor beta-receptor activity Ref.1Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Potential | ||||||||
| Chain | 22 – 375 | 354 | Platelet-derived growth factor receptor-like protein | PRO_0000233090 | |||||||
Regions | |||||||||||
| Domain | 62 – 159 | 98 | Ig-like C2-type 1 | ||||||||
| Domain | 272 – 375 | 104 | Ig-like C2-type 2 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 132 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 219 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 96 ↔ 143 | By similarity | |||||||||
| Disulfide bond | 293 ↔ 357 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 23 | 1 | H → Y in CRC; somatic mutation. | VAR_026052 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 227 | 1 | M → I in CAG46750. Ref.2 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 7898930] [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] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
Cross-references
Sequence databases | |
|---|---|
| D37965 mRNA. Translation: BAA07179.1. CR541952 mRNA. Translation: CAG46750.1. BC010927 mRNA. Translation: AAH10927.1. | |
| PIR | I60125. |
| RefSeq | NP_006198.1. |
| UniGene | Hs.458573 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1FLT based on UniProtKB P17948. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q15198. |
Genome annotation databases | |
| Ensembl | ENSG00000104213. Homo sapiens. [Contig view] |
| GeneID | 5157. |
| KEGG | hsa:5157. |
Organism-specific databases | |
| H-InvDB | HIX0007339. |
| HGNC | HGNC:8805. PDGFRL. |
| MIM | 114500. phenotype. 604584. gene. |
| Orphanet | 144. Colon cancer, familial nonpolyposis. |
| PharmGKB | PA33149. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q15198. |
| HOVERGEN | Q15198. |
Gene expression databases | |
| CleanEx | HS_PDGFRL. |
| GermOnline | ENSG00000104213. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013151. Ig. IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR003599. Ig_sub. [Graphical view] |
| Gene3D | G3DSA:2.60.40.10. Ig-like_fold. 2 hits. |
| Pfam | PF00047. ig. 2 hits. [Graphical view] |
| SMART | SM00409. IG. 2 hits. [Graphical view] |
| PROSITE | PS50835. IG_LIKE. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 19950. |
| SOURCE | Search... |
Entry information
| Entry name | PGFRL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q15198 Secondary accession number(s): Q6FH04 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


