ID A0A024R2F2_HUMAN Unreviewed; 213 AA. AC A0A024R2F2; A0A0S2Z4I2; DT 09-JUL-2014, integrated into UniProtKB/TrEMBL. DT 09-JUL-2014, sequence version 1. DT 28-JUN-2023, entry version 65. DE SubName: Full=von Hippel-Lindau tumor suppressor isoform 2 {ECO:0000313|EMBL:ALQ33845.1}; DE SubName: Full=von Hippel-Lindau tumor suppressor, isoform CRA_a {ECO:0000313|EMBL:EAW64066.1}; DE Flags: Fragment; GN Name=VHL {ECO:0000313|EMBL:ALQ33845.1}; GN ORFNames=hCG_1994953 {ECO:0000313|EMBL:EAW64066.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:ALQ33845.1}; RN [1] {ECO:0000313|EMBL:EAW64066.1} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=11181995; DOI=10.1126/science.1058040; RA Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., RA Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., RA Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H., RA Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., RA Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., RA McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., RA Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., RA Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., RA Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., RA Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., RA Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., RA Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., RA Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., RA Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., RA Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., RA Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., RA Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., RA Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., RA Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., RA Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., RA Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., RA Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., RA Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., RA Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., RA Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., RA McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., RA Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., RA Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., RA Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., RA Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., RA Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., RA Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., RA Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., RA Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., RA Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., RA Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., RA Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., RA Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., RA Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., RA Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., RA Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., RA Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., RA Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., RA Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.; RT "The sequence of the human genome."; RL Science 291:1304-1351(2001). RN [2] {ECO:0000313|EMBL:EAW64066.1} RP NUCLEOTIDE SEQUENCE. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [3] {ECO:0000313|EMBL:ALQ33845.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=26871637; DOI=10.1016/j.cell.2016.01.029; RA Yang X., Coulombe-Huntington J., Kang S., Sheynkman G.M., Hao T., RA Richardson A., Sun S., Yang F., Shen Y.A., Murray R., Spirohn K., RA Begg B.E., Duran-Frigola M., MacWilliams A., Pevzner S.J., Zhong Q., RA Trigg S.A., Tam S., Ghamsari L., Sahni N., Yi S., Rodriguez M.D., RA Balcha D., Tan G., Costanzo M., Andrews B., Boone C., Zhou X.J., RA Salehi-Ashtiani K., Charloteaux B., Chen A., Calderwood M.A., Aloy P., RA Roth F.P., Hill D.E., Iakoucheva L.M., Xia Y., Vidal M.; RT "Widespread Expansion of Protein Interaction Capabilities by Alternative RT Splicing."; RL Cell 164:805-817(2016). CC -!- SIMILARITY: Belongs to the VHL family. {ECO:0000256|ARBA:ARBA00010057}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; KU178387; ALQ33845.1; -; mRNA. DR EMBL; CH471055; EAW64066.1; -; Genomic_DNA. DR RefSeq; NP_000542.1; NM_000551.3. DR SMR; A0A024R2F2; -. DR Antibodypedia; 10562; 820 antibodies from 41 providers. DR DNASU; 7428; -. DR GeneID; 7428; -. DR KEGG; hsa:7428; -. DR CTD; 7428; -. DR VEuPathDB; HostDB:ENSG00000134086; -. DR HOGENOM; CLU_116090_0_0_1; -. DR OMA; VGHPWLF; -. DR OrthoDB; 2951928at2759; -. DR BioGRID-ORCS; 7428; 646 hits in 1234 CRISPR screens. DR ChiTaRS; VHL; human. DR GenomeRNAi; 7428; -. DR Proteomes; UP001055169; Unassembled WGS sequence. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR CDD; cd05468; pVHL; 1. DR Gene3D; 1.10.750.10; von Hippel-Lindau disease tumour suppressor, alpha domain; 1. DR Gene3D; 2.60.40.780; von Hippel-Lindau disease tumour suppressor, beta domain; 1. DR InterPro; IPR024048; VHL_alpha_dom. DR InterPro; IPR037139; VHL_alpha_dom_sf. DR InterPro; IPR024053; VHL_beta_dom. DR InterPro; IPR037140; VHL_beta_dom_sf. DR InterPro; IPR036208; VHL_sf. DR InterPro; IPR022772; VHL_tumour_suppress_b/a_dom. DR Pfam; PF01847; VHL; 1. DR Pfam; PF17211; VHL_C; 1. DR SUPFAM; SSF49468; VHL; 1. PE 2: Evidence at transcript level; FT DOMAIN 63..143 FT /note="von Hippel-Lindau disease tumour suppressor beta" FT /evidence="ECO:0000259|Pfam:PF01847" FT DOMAIN 156..204 FT /note="von Hippel-Lindau disease tumour suppressor alpha" FT /evidence="ECO:0000259|Pfam:PF17211" FT REGION 1..65 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 12..50 FT /note="Acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT NON_TER 213 FT /evidence="ECO:0000313|EMBL:ALQ33845.1" SQ SEQUENCE 213 AA; 24153 MW; BA5D6765FBC16EA7 CRC64; MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA EEEMEAGRPR PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT LPPGTGRRIH SYRGHLWLFR DAGTHDGLLV NQTELFVPSL NVDGQPIFAN ITLPVYTLKE RCLQVVRSLV KPENYRRLDI VRSLYEDLED HPNVQKDLER LTQERIAHQR MGD //