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 13-SEP-2023, entry version 66. 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 AlphaFoldDB; A0A024R2F2; -. DR SMR; A0A024R2F2; -. DR Antibodypedia; 10562; 821 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 GO; GO:0005929; C:cilium; IEA:Ensembl. DR GO; GO:0031462; C:Cul2-RING ubiquitin ligase complex; IEA:Ensembl. DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl. DR GO; GO:0005730; C:nucleolus; IEA:Ensembl. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0014069; C:postsynaptic density; IEA:Ensembl. 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:0045446; P:endothelial cell differentiation; 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:0097411; P:hypoxia-inducible factor-1alpha signaling pathway; 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:0010629; P:negative regulation of gene expression; 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:0099175; P:regulation of postsynapse organization; IEA:Ensembl. DR GO; GO:0032880; P:regulation of protein localization; IEA:Ensembl. DR GO; GO:0140252; P:regulation protein catabolic process at postsynapse; IEA:Ensembl. DR GO; GO:0045471; P:response to ethanol; 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; 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 //