VHL angl Von Hippel Lindau tumor suppressor bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 3 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 213 aminokislot a molekulyarna masa 24 153 5 VHLNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB4WQO 1LM8 1LQB 1VCB 3ZRC 3ZRF 3ZTC 3ZTD 3ZUN 4AJY 4AWJ 4B95 4B9K 4BKS 4BKT 4W9C 4W9D 4W9E 4W9F 4W9G 4W9H 4W9I 4W9J 4W9K 4W9LIdentifikatoriSimvoliVHL HRCA1 RCA1 VHL1 pvon Hippel Lindau tumor suppressorZovnishni ID OMIM 608537 HomoloGene 465 GeneCards VHLPov yazani genetichni zahvoryuvannyafeohromocitoma von Hippel Lindau disease familial erythrocytosis 2 nonpapillary renal cell carcinoma hereditary pheochromocytoma paraganglioma adrenal gland pheochromocytoma 1 Ontologiya genaMolekulyarna funkciya GO 1904264 GO 1904822 GO 0090622 GO 0090302 ubiquitin protein ligase activity transcription factor binding GO 0050372 ubiquitin protein transferase activity GO 0001948 GO 0016582 protein binding enzyme bindingKlitinna komponenta citoplazma gialoplazma VCB complex membrana Nukleoplazma endoplazmatichnij retikulum mitohondriya klitinne yadroBiologichnij proces GO 0009373 regulation of transcription DNA templated protein stabilization negative regulation of apoptotic process GO 1901227 negative regulation of transcription by RNA polymerase II proteoliz GO 0060469 GO 0009371 positive regulation of transcription DNA templated positive regulation of cell differentiation GO 0000767 cell morphogenesis regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of cell population proliferation negative regulation of gene expression Ubikvitin zalezhnij proteoliz posttranslyacijna modifikaciya negative regulation of receptor signaling pathway via JAK STATDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez7428 24874Ensembl ENSG00000134086 ENSRNOG00000010258UniProt P40337 Q64259RefSeq mRNK NM 000551NM 198156NM 001354723NM 052801RefSeq bilok NP 000542NP 937799NP 001341652NP 000542 1NP 434688Lokus UCSC Hr 3 10 14 10 15 Mbn dPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQRMGDA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Zadiyanij u takih biologichnih procesah yak ubikvitinuvannya bilkiv polimorfizm alternativnij splajsing Lokalizovanij u citoplazmi yadri membrani Literatura red The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Richards F M Schofield P N Fleming S Maher E R 1996 Expression of the von Hippel Lindau disease tumour suppressor gene during human embryogenesis Hum Mol Genet 5 639 644 PubMed DOI 10 1093 hmg 5 5 639 Schoenfeld A Davidowitz E J Burk R D 1998 A second major native von Hippel Lindau gene product initiated from an internal translation start site functions as a tumor suppressor Proc Natl Acad Sci U S A 95 8817 8822 PubMed DOI 10 1073 pnas 95 15 8817 Kibel A Iliopoulos O DeCaprio J A Kaelin W G Jr 1995 Binding of the von Hippel Lindau tumor suppressor protein to Elongin B and C Science 269 1444 1446 PubMed DOI 10 1126 science 7660130 Iliopoulos O Ohh M Kaelin W G Jr 1998 pVHL19 is a biologically active product of the von Hippel Lindau gene arising from internal translation initiation Proc Natl Acad Sci U S A 95 11661 11666 PubMed DOI 10 1073 pnas 95 20 11661 Feldman D E Thulasiraman V Ferreyra R G Frydman J 1999 Formation of the VHL elongin BC tumor suppressor complex is mediated by the chaperonin TRiC Mol Cell 4 1051 1061 PubMed DOI 10 1016 S1097 2765 00 80233 6Primitki red Zahvoryuvannya genetichno pov yazani z VHL pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 12687 angl Arhiv originalu za 22 veresnya 2017 Procitovano 30 serpnya 2017 UniProt P40337 angl Arhiv originalu za 25 serpnya 2017 Procitovano 30 serpnya 2017 Div takozh red Hromosoma 3 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title VHL amp oldid 35762355
