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 10-FEB-2021, entry version 54. 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 BindingDB; A0A024R2F2; -. DR Antibodypedia; 10562; 717 antibodies. DR GeneID; 7428; -. DR KEGG; hsa:7428; -. DR CTD; 7428; -. DR VEuPathDB; HostDB:ENSG00000134086.7; -. DR HOGENOM; CLU_116090_0_0_1; -. DR OMA; GRRMTTY; -. DR OrthoDB; 1307987at2759; -. DR BioGRID-ORCS; 7428; 566 hits in 886 CRISPR screens. DR ChiTaRS; VHL; human. DR GenomeRNAi; 7428; -. DR Bgee; ENSG00000134086; Expressed in cortical plate and 159 other tissues. DR ExpressionAtlas; A0A024R2F2; baseline and differential. DR GO; GO:0005929; C:cilium; IEA:Ensembl. DR GO; GO:0031462; C:Cul2-RING ubiquitin ligase complex; IEA:Ensembl. DR GO; GO:0005829; C:cytosol; IEA:Ensembl. DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl. DR GO; GO:0005739; C:mitochondrion; IEA:Ensembl. DR GO; GO:0005730; C:nucleolus; IEA:Ensembl. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0098794; C:postsynapse; IEA:GOC. DR GO; GO:0030891; C:VCB complex; IEA:Ensembl. DR GO; GO:0044877; F:protein-containing complex binding; IEA:Ensembl. DR GO; GO:0001525; P:angiogenesis; IEA:Ensembl. DR GO; GO:0043534; P:blood vessel endothelial cell migration; IEA:Ensembl. DR GO; GO:0061073; P:ciliary body morphogenesis; IEA:Ensembl. DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl. DR GO; GO:0048069; P:eye pigmentation; IEA:Ensembl. DR GO; GO:0048877; P:homeostasis of number of retina cells; IEA:Ensembl. DR GO; GO:0061072; P:iris morphogenesis; IEA:Ensembl. DR GO; GO:0006582; P:melanin metabolic process; IEA:Ensembl. DR GO; GO:0045602; P:negative regulation of endothelial cell differentiation; IEA:Ensembl. DR GO; GO:1902072; P:negative regulation of hypoxia-inducible factor-1alpha signaling pathway; IEA:Ensembl. DR GO; GO:0070244; P:negative regulation of thymocyte apoptotic process; IEA:Ensembl. DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0030182; P:neuron differentiation; IEA:Ensembl. DR GO; GO:0003310; P:pancreatic A cell differentiation; IEA:Ensembl. DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IEA:Ensembl. DR GO; GO:0010498; P:proteasomal protein catabolic process; IEA:Ensembl. DR GO; GO:0015031; P:protein transport; IEA:Ensembl. DR GO; GO:2001233; P:regulation of apoptotic signaling pathway; IEA:Ensembl. DR GO; GO:0042069; P:regulation of catecholamine metabolic process; IEA:Ensembl. DR GO; GO:1903827; P:regulation of cellular protein localization; IEA:Ensembl. DR GO; GO:0099175; P:regulation of postsynapse organization; IEA:Ensembl. DR GO; GO:0099576; P:regulation of protein catabolic process at postsynapse, modulating synaptic transmission; IEA:Ensembl. DR GO; GO:0045471; P:response to ethanol; IEA:Ensembl. DR GO; GO:0001666; P:response to hypoxia; IEA:Ensembl. DR GO; GO:0003309; P:type B pancreatic cell differentiation; IEA:Ensembl. DR CDD; cd05468; pVHL; 1. DR Gene3D; 1.10.750.10; -; 1. DR Gene3D; 2.60.40.780; -; 1. DR InterPro; IPR002714; VHL. 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 PANTHER; PTHR15160:SF10; PTHR15160:SF10; 1. DR Pfam; PF01847; VHL; 1. DR Pfam; PF17211; VHL_C; 1. DR SUPFAM; SSF49468; SSF49468; 1. PE 2: Evidence at transcript level; FT DOMAIN 63..143 FT /note="VHL" FT /evidence="ECO:0000259|Pfam:PF01847" FT DOMAIN 156..204 FT /note="VHL_C" 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" 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 //