Version 5.4
| Homo sapiens Protein: PDGFRL | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-598563.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | PDGFRL | ||||||||
| Protein Name | platelet-derived growth factor receptor-like | ||||||||
| Synonyms | PDGRL; PRLTS; | ||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000444211 | ||||||||
| InnateDB Gene | IDBG-8734 (PDGFRL) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | |||||||||
| Subcellular Localization | Secreted {ECO:0000305}. | ||||||||
| Disease Associations | Colorectal cancer (CRC) [MIM:114500]: A 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. {ECO:0000269PubMed:7898930}. Note=The gene represented in this entry is involved in disease pathogenesis.Note=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. {ECO:0000269PubMed:22926996}. | ||||||||
| Tissue Specificity | Expressed in colon, lung and liver. {ECO:0000269PubMed:7898930}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013151 Immunoglobulin |
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| PFAM |
PF07679
PF00047 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART |
SM00408
SM00409 |
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q15198 | ||||||||
| PhosphoSite | PhosphoSite-Q15198 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 5157 | ||||||||
| UniGene | Hs.458573 | ||||||||
| RefSeq | NP_006198 | ||||||||
| HUGO | HGNC:8805 | ||||||||
| OMIM | 604584 | ||||||||
| CCDS | CCDS6003 | ||||||||
| HPRD | 05206 | ||||||||
| IMGT | |||||||||
| EMBL | AK289450 BC010927 CH471080 CR541952 D37965 | ||||||||
| GenPept | AAH10927 BAA07179 BAF82139 CAG46750 EAW63811 | ||||||||