Human Gene VHL (ENST00000256474.3_4) from GENCODE V47lift37
  Description: von Hippel-Lindau tumor suppressor, transcript variant 1 (from RefSeq NM_000551.4)
Gencode Transcript: ENST00000256474.3_4
Gencode Gene: ENSG00000134086.11_9
Transcript (Including UTRs)
   Position: hg19 chr3:10,183,462-10,195,351 Size: 11,890 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr3:10,183,532-10,191,649 Size: 8,118 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:10,183,462-10,195,351)mRNA (may differ from genome)Protein (213 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VHL_HUMAN
DESCRIPTION: RecName: Full=Von Hippel-Lindau disease tumor suppressor; AltName: Full=Protein G7; AltName: Full=pVHL;
FUNCTION: Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Component of the VCB (VHL-Elongin BC-CUL2) complex; this complex acts as a ubiquitin-ligase E3 and directs proteasome- dependent degradation of targeted proteins. Interacts with CUL2; this interaction is dependent on the integrity of the trimeric VBC complex. Interacts (via the beta domain) with HIF1A (via the NTAD domain); this interaction mediates degradation of HIF1A in normoxia and, in hypoxia, prevents ubiqitination and degradation of HIF1A by mediating hypoxia-induced translocation to the nucleus, a process which requires a hypoxia-dependent regulatory signal. Interacts with ADRB2; the interaction, in normoxia, is dependent on hydroxylation of ADRB2 and the subsequent VCB- mediated ubiquitination and degradation of ADRB2. Under hypoxia, hydroxylation, interaction with VHL, ubiquitination and subsequent degradation of ADRB2 are dramatically decreased. Interacts with RNF139, USP33 and PHF17. Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Isoform 1 and isoform 3 interact with LIMD1 (via LIM zinc-binding 2), AJUBA (via LIM domains) and WTIP (via LIM domains). Interacts with EPAS1.
INTERACTION: O75912:DGKI; NbExp=3; IntAct=EBI-301270, EBI-1765520; Q9UM11:FZR1; NbExp=2; IntAct=EBI-3504450, EBI-724997; P63244:GNB2L1; NbExp=9; IntAct=EBI-301246, EBI-296739; Q16665:HIF1A; NbExp=6; IntAct=EBI-301246, EBI-447269; Q8WU17:RNF139; NbExp=2; IntAct=EBI-301246, EBI-1551681; P21980:TGM2; NbExp=10; IntAct=EBI-301246, EBI-727668;
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane.
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus. Note=Equally distributed between the nucleus and the cytoplasm but not membrane-associated.
TISSUE SPECIFICITY: Expressed in the adult and fetal brain and kidney.
DEVELOPMENTAL STAGE: At 4-10 weeks pc, strong expression in the developing central nervous system, kidneys, testis and lung. Differentially expressed within renal tubules.
DOMAIN: The Elongin BC complex binding domain is also known as BC- box with the consensus [APST]-L-x(3)-C-x(3)-[AILV].
DISEASE: Defects in VHL are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
DISEASE: Defects in VHL are the cause of von Hippel-Lindau disease (VHLD) [MIM:193300]. VHLD is a dominantly inherited familial cancer syndrome characterized by the development of retinal angiomatosis, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), phaeochromocytoma and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. The estimated incidence is 3/100000 births per year and penetrance is 97% by age 60 years.
DISEASE: Defects in VHL are the cause of familial erythrocytosis type 2 (ECYT2) [MIM:263400]; also called VHL-dependent polycythemia or Chuvash type polycythemia. ECYT2 is an autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events.
DISEASE: Defects in VHL are a cause of renal cell carcinoma (RCC) [MIM:144700]. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VHLID132.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VHL";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: VHL
Diseases sorted by gene-association score: von hippel-lindau syndrome* (1710), erythrocytosis, familial, 2* (1686), renal cell carcinoma* (1283), pheochromocytoma* (892), kidney cancer* (454), cystic kidney disease* (291), hereditary paraganglioma-pheochromocytoma syndromes* (124), vhl-related pheochromocytoma* (100), hemangioblastoma (59), clear cell renal cell carcinoma (42), sporadic pheochromocytoma* (31), microcystic adenoma (25), hypoxia (24), angiomatosis (23), endolymphatic sac tumor (20), renal clear cell carcinoma (18), adenoma of pancreas (17), pancreatic serous cystadenoma (15), primary polycythemia (13), polycythemia (11), fumarate hydratase deficiency (10), multiple endocrine neoplasia (10), paraganglioma (9), cystadenoma (9), phaeochromocytoma (9), retinal hemangioblastoma (9), neurofibromatosis, type 1 (7), hemangioma of liver (7), clear cell papillary renal cell carcinoma (7), newcastle disease (6), collecting duct carcinoma (6), epithelioid hemangioendothelioma (6), acute mountain sickness (4), tuberous sclerosis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.89 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 336.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.5070-0.507 Picture PostScript Text
3' UTR -1627.703702-0.440 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002714 - Tumour_suppress_VHL-disease
IPR024048 - VHL_alpha_dom
IPR024053 - VHL_beta_dom
IPR022772 - VHL_tumour_suppress_b/a_dom

Pfam Domains:
PF01847 - VHL beta domain
PF17211 - VHL box domain

SCOP Domains:
49468 - VHL

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1LM8 - X-ray MuPIT 1LQB - X-ray MuPIT 1VCB - X-ray MuPIT 3ZRC - X-ray 3ZRF - X-ray 3ZTC - X-ray MuPIT 3ZTD - X-ray MuPIT 3ZUN - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P40337
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000902 cell morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0008285 negative regulation of cell proliferation
GO:0010629 negative regulation of gene expression
GO:0016567 protein ubiquitination
GO:0043066 negative regulation of apoptotic process
GO:0043687 post-translational protein modification
GO:0045597 positive regulation of cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046426 negative regulation of JAK-STAT cascade
GO:0050821 protein stabilization
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0061428 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0030891 VCB complex


-  Descriptions from all associated GenBank mRNAs
  L15409 - Homo sapiens (clone g7) von Hippel-Lindau disease tumor suppressor mRNA sequence.
LF384169 - JP 2014500723-A/191672: Polycomb-Associated Non-Coding RNAs.
AK315799 - Homo sapiens cDNA, FLJ96920, Homo sapiens von Hippel-Lindau syndrome (VHL), mRNA.
BC058831 - Homo sapiens von Hippel-Lindau tumor suppressor, mRNA (cDNA clone MGC:61974 IMAGE:6457060), complete cds.
BC027957 - Homo sapiens cDNA clone IMAGE:5210077, partial cds.
AK304002 - Homo sapiens cDNA FLJ51515 complete cds, highly similar to Von Hippel-Lindau disease tumor suppressor.
JD342865 - Sequence 323889 from Patent EP1572962.
AB528056 - Synthetic construct DNA, clone: pF1KB7932, Homo sapiens VHL gene for von Hippel-Lindau tumor suppressor, without stop codon, in Flexi system.
KU178386 - Homo sapiens von Hippel-Lindau tumor suppressor isoform 1 (VHL) mRNA, partial cds.
KU178387 - Homo sapiens von Hippel-Lindau tumor suppressor isoform 2 (VHL) mRNA, partial cds.
HQ257941 - Synthetic construct Homo sapiens clone IMAGE:100072250 Unknown protein gene, encodes complete protein.
KJ897734 - Synthetic construct Homo sapiens clone ccsbBroadEn_07128 VHL gene, encodes complete protein.
KR711283 - Synthetic construct Homo sapiens clone CCSBHm_00022221 VHL (VHL) mRNA, encodes complete protein.
KR711284 - Synthetic construct Homo sapiens clone CCSBHm_00022229 VHL (VHL) mRNA, encodes complete protein.
KR711285 - Synthetic construct Homo sapiens clone CCSBHm_00022297 VHL (VHL) mRNA, encodes complete protein.
KR711286 - Synthetic construct Homo sapiens clone CCSBHm_00022370 VHL (VHL) mRNA, encodes complete protein.
AK309560 - Homo sapiens cDNA, FLJ99601.
JD550093 - Sequence 531117 from Patent EP1572962.
JD288393 - Sequence 269417 from Patent EP1572962.
JD521555 - Sequence 502579 from Patent EP1572962.
JD242191 - Sequence 223215 from Patent EP1572962.
JD157214 - Sequence 138238 from Patent EP1572962.
JD073160 - Sequence 54184 from Patent EP1572962.
JD244007 - Sequence 225031 from Patent EP1572962.
JD237481 - Sequence 218505 from Patent EP1572962.
JD284551 - Sequence 265575 from Patent EP1572962.
JD234796 - Sequence 215820 from Patent EP1572962.
JD536794 - Sequence 517818 from Patent EP1572962.
JD052313 - Sequence 33337 from Patent EP1572962.
JD567002 - Sequence 548026 from Patent EP1572962.
JD513585 - Sequence 494609 from Patent EP1572962.
JD523052 - Sequence 504076 from Patent EP1572962.
JD119346 - Sequence 100370 from Patent EP1572962.
JD257493 - Sequence 238517 from Patent EP1572962.
JD513877 - Sequence 494901 from Patent EP1572962.
JD069696 - Sequence 50720 from Patent EP1572962.
JD414669 - Sequence 395693 from Patent EP1572962.
JD305556 - Sequence 286580 from Patent EP1572962.
JD314117 - Sequence 295141 from Patent EP1572962.
JD384663 - Sequence 365687 from Patent EP1572962.
JD246037 - Sequence 227061 from Patent EP1572962.
JD563883 - Sequence 544907 from Patent EP1572962.
JD048624 - Sequence 29648 from Patent EP1572962.
JD466051 - Sequence 447075 from Patent EP1572962.
JD112440 - Sequence 93464 from Patent EP1572962.
JD112441 - Sequence 93465 from Patent EP1572962.
AF088066 - Homo sapiens full length insert cDNA clone ZD86C03.
JD089541 - Sequence 70565 from Patent EP1572962.
JD468729 - Sequence 449753 from Patent EP1572962.
JD468730 - Sequence 449754 from Patent EP1572962.
JD188874 - Sequence 169898 from Patent EP1572962.
JD078260 - Sequence 59284 from Patent EP1572962.
JD309029 - Sequence 290053 from Patent EP1572962.
JD111761 - Sequence 92785 from Patent EP1572962.
JD238567 - Sequence 219591 from Patent EP1572962.
JD453145 - Sequence 434169 from Patent EP1572962.
JD092643 - Sequence 73667 from Patent EP1572962.
JD230046 - Sequence 211070 from Patent EP1572962.
JD269613 - Sequence 250637 from Patent EP1572962.
JD269612 - Sequence 250636 from Patent EP1572962.
JD461307 - Sequence 442331 from Patent EP1572962.
JD405228 - Sequence 386252 from Patent EP1572962.
JD050830 - Sequence 31854 from Patent EP1572962.
JD364569 - Sequence 345593 from Patent EP1572962.
JD185401 - Sequence 166425 from Patent EP1572962.
JD185402 - Sequence 166426 from Patent EP1572962.
JD185400 - Sequence 166424 from Patent EP1572962.
JD366586 - Sequence 347610 from Patent EP1572962.
JD366587 - Sequence 347611 from Patent EP1572962.
JD366585 - Sequence 347609 from Patent EP1572962.
JD517774 - Sequence 498798 from Patent EP1572962.
JD517769 - Sequence 498793 from Patent EP1572962.
JD517770 - Sequence 498794 from Patent EP1572962.
JD105990 - Sequence 87014 from Patent EP1572962.
JD105992 - Sequence 87016 from Patent EP1572962.
JD105991 - Sequence 87015 from Patent EP1572962.
JD105623 - Sequence 86647 from Patent EP1572962.
JD158863 - Sequence 139887 from Patent EP1572962.
JD208666 - Sequence 189690 from Patent EP1572962.
JD112002 - Sequence 93026 from Patent EP1572962.
JD221273 - Sequence 202297 from Patent EP1572962.
JD411980 - Sequence 393004 from Patent EP1572962.
JD083368 - Sequence 64392 from Patent EP1572962.
JD557962 - Sequence 538986 from Patent EP1572962.
JD264345 - Sequence 245369 from Patent EP1572962.
JD388213 - Sequence 369237 from Patent EP1572962.
JD439551 - Sequence 420575 from Patent EP1572962.
JD054487 - Sequence 35511 from Patent EP1572962.
JD123827 - Sequence 104851 from Patent EP1572962.
JD388214 - Sequence 369238 from Patent EP1572962.
JD118357 - Sequence 99381 from Patent EP1572962.
JD309268 - Sequence 290292 from Patent EP1572962.
JD092163 - Sequence 73187 from Patent EP1572962.
JD267255 - Sequence 248279 from Patent EP1572962.
JD182288 - Sequence 163312 from Patent EP1572962.
JD349974 - Sequence 330998 from Patent EP1572962.
JD510434 - Sequence 491458 from Patent EP1572962.
JD351600 - Sequence 332624 from Patent EP1572962.
JD522789 - Sequence 503813 from Patent EP1572962.
JD139852 - Sequence 120876 from Patent EP1572962.
JD451743 - Sequence 432767 from Patent EP1572962.
JD365281 - Sequence 346305 from Patent EP1572962.
JD518130 - Sequence 499154 from Patent EP1572962.
JD518131 - Sequence 499155 from Patent EP1572962.
JD518132 - Sequence 499156 from Patent EP1572962.
JD530605 - Sequence 511629 from Patent EP1572962.
JD353302 - Sequence 334326 from Patent EP1572962.
JD353303 - Sequence 334327 from Patent EP1572962.
JD419599 - Sequence 400623 from Patent EP1572962.
JD058741 - Sequence 39765 from Patent EP1572962.
JD504444 - Sequence 485468 from Patent EP1572962.
JD518885 - Sequence 499909 from Patent EP1572962.
JD356629 - Sequence 337653 from Patent EP1572962.
JD506343 - Sequence 487367 from Patent EP1572962.
JD374391 - Sequence 355415 from Patent EP1572962.
JD441355 - Sequence 422379 from Patent EP1572962.
JD381001 - Sequence 362025 from Patent EP1572962.
JD381002 - Sequence 362026 from Patent EP1572962.
JD211898 - Sequence 192922 from Patent EP1572962.
JD476181 - Sequence 457205 from Patent EP1572962.
JD407055 - Sequence 388079 from Patent EP1572962.
JD481488 - Sequence 462512 from Patent EP1572962.
JD211142 - Sequence 192166 from Patent EP1572962.
JD522441 - Sequence 503465 from Patent EP1572962.
JD086587 - Sequence 67611 from Patent EP1572962.
JD542369 - Sequence 523393 from Patent EP1572962.
JD211831 - Sequence 192855 from Patent EP1572962.
JD196756 - Sequence 177780 from Patent EP1572962.
JD410439 - Sequence 391463 from Patent EP1572962.
JD443934 - Sequence 424958 from Patent EP1572962.
JD336555 - Sequence 317579 from Patent EP1572962.
JD136158 - Sequence 117182 from Patent EP1572962.
JD079524 - Sequence 60548 from Patent EP1572962.
JD197084 - Sequence 178108 from Patent EP1572962.
JD529620 - Sequence 510644 from Patent EP1572962.
JD170101 - Sequence 151125 from Patent EP1572962.
JD532692 - Sequence 513716 from Patent EP1572962.
JD531778 - Sequence 512802 from Patent EP1572962.
JD176286 - Sequence 157310 from Patent EP1572962.
JD333390 - Sequence 314414 from Patent EP1572962.
JD182851 - Sequence 163875 from Patent EP1572962.
JD089394 - Sequence 70418 from Patent EP1572962.
JD546353 - Sequence 527377 from Patent EP1572962.
JD221974 - Sequence 202998 from Patent EP1572962.
JD230091 - Sequence 211115 from Patent EP1572962.
JD269668 - Sequence 250692 from Patent EP1572962.
JD496047 - Sequence 477071 from Patent EP1572962.
MA619746 - JP 2018138019-A/191672: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_vegfPathway - VEGF, Hypoxia, and Angiogenesis
h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System

Reactome (by CSHL, EBI, and GO)

Protein P40337 (Reactome details) participates in the following event(s):

R-HSA-8956099 VHL:EloB,C:NEDD8-CUL2:RBX1 complex binds UBXN7
R-HSA-8956103 VHL:EloB,C:NEDD8-CUL2:RBX1 complex binds hydroxyprolyl-HIF-alpha
R-HSA-1234169 Nuclear VHL:EloB,C:CUL2:RBX1 binds hydroxyprolyl-HIF-alpha
R-HSA-1234183 Cytosolic VHL:EloB,C:CUL2:RBX1 binds hydroxyprolyl-HIF-alpha
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8956106 VHL:EloB,C:NEDD8-CUL2:RBX1 complex ubiquitinylates HIF-alpha
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-1234172 Nuclear VBC complex ubiquitinylates HIF-alpha
R-HSA-1234163 Cytosolic VBC complex ubiquitinylates hydroxyprolyl-HIF-alpha
R-HSA-1234173 Cytosolic PHD2,3 hydroxylates proline residues on HIF3A
R-HSA-1234177 Cytosolic PHD2,3 hydroxylates proline residues on HIF1A
R-HSA-1234179 Cytosolic PHD2,3 hydroxylates proline residues on EPAS1 (HIF2A)
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8951664 Neddylation
R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-1234174 Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-2262749 Cellular response to hypoxia
R-HSA-1280218 Adaptive Immune System
R-HSA-2262752 Cellular responses to stress
R-HSA-168256 Immune System
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: B2RE45, ENST00000256474.1, ENST00000256474.2, NM_000551, P40337, Q13599, Q6PDA9, uc317fuy.1, uc317fuy.2, VHL_HUMAN
UCSC ID: ENST00000256474.3_4
RefSeq Accession: NM_000551.4
Protein: P40337 (aka VHL_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene VHL:
vhl (Von Hippel-Lindau Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.