{"metadata":{"accession":"PF12877","entry_id":null,"type":"domain","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR024606","hierarchy":null,"name":{"name":"UPF0606 protein KIAA1549 alpha/beta domain 2","short":"KIAA1549"},"description":[{"text":"<p>This entry represents an alpha/beta domain found in the KIAA1549 protein from human ([swissprot:Q9HCM3]) which has been implicated in pilocytic astrocytomas [[cite:PUB00056166],[cite:PUB00056167],[cite:PUB00056168]]. It has been found to be fused to BRAF gene in many cases of pilocytic astrocytomas. The fusion is due mainly to a tandem duplication of 2 Mb at 7q34 [[cite:PUB00056166],[cite:PUB00056167]]. The BRAF protein is a well characterised oncoprotein. It is a serine/threonine protein kinase which is implicated in MAP/ERK signalling, a critical pathway for the regulation of cell division, differentiation and secretion [[cite:PUB00056166],[cite:PUB00056167],[cite:PUB00056168]]. More recently, KIAA1549 has been described to play a role in photoreceptor function [[cite:PUB00101492]]. This protein contains three homologous domains of this type found in tandem.</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00101492":{"PMID":30120214,"ISBN":null,"volume":"55","issue":"10","year":2018,"title":"Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.","URL":null,"raw_pages":"705-712","medline_journal":"J Med Genet","ISO_journal":"J Med Genet","authors":["de Bruijn SE","Verbakel SK","de Vrieze E","Kremer H","Cremers FPM","Hoyng CB","van den Born LI","Roosing S."],"DOI_URL":null},"PUB00056167":{"PMID":19363522,"ISBN":null,"volume":"28","issue":"20","year":2009,"title":"Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma.","URL":null,"raw_pages":"2119-23","medline_journal":"Oncogene","ISO_journal":"Oncogene","authors":["Jones DT","Kocialkowski S","Liu L","Pearson DM","Ichimura K","Collins VP."],"DOI_URL":"http://dx.doi.org/10.1038/onc.2009.73"},"PUB00056166":{"PMID":18974108,"ISBN":null,"volume":"68","issue":"21","year":2008,"title":"Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.","URL":null,"raw_pages":"8673-7","medline_journal":"Cancer Res","ISO_journal":"Cancer Res.","authors":["Jones DT","Kocialkowski S","Liu L","Pearson DM","Backlund LM","Ichimura K","Collins VP."],"DOI_URL":"http://dx.doi.org/10.1158/0008-5472.CAN-08-2097"},"PUB00056168":{"PMID":19937730,"ISBN":null,"volume":"222","issue":"3","year":2010,"title":"MAPK pathway activation and the origins of pediatric low-grade astrocytomas.","URL":null,"raw_pages":"509-14","medline_journal":"J Cell Physiol","ISO_journal":"J. Cell. Physiol.","authors":["Tatevossian RG","Lawson AR","Forshew T","Hindley GF","Ellison DW","Sheer D."],"DOI_URL":null}},"set_info":{"accession":"CL0960","name":"HD_NOTCH-like"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":17,"interactions":0,"matches":2276,"pathways":0,"proteins":2272,"proteomes":734,"sets":1,"structural_models":{"alphafold":670},"structures":0,"taxa":2277},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":11,"alignment:full":1845},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}