Details for: VHL

Gene ID: 7428

Symbol: VHL

Ensembl ID: ENSG00000134086

Description: von Hippel-Lindau tumor suppressor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 128.9657
    Cell Significance Index: -20.0600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 75.5391
    Cell Significance Index: -19.1600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 46.2168
    Cell Significance Index: -21.8200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 42.7889
    Cell Significance Index: -22.0100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.5270
    Cell Significance Index: -21.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.5107
    Cell Significance Index: -20.1200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5929
    Cell Significance Index: -22.0700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.7878
    Cell Significance Index: -8.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.8292
    Cell Significance Index: 126.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0626
    Cell Significance Index: 959.4900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0297
    Cell Significance Index: 61.8200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9279
    Cell Significance Index: 12.6600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8996
    Cell Significance Index: 97.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7263
    Cell Significance Index: 118.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.7159
    Cell Significance Index: 46.1900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6209
    Cell Significance Index: 124.5500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5675
    Cell Significance Index: 66.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5127
    Cell Significance Index: 13.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4923
    Cell Significance Index: 13.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4804
    Cell Significance Index: 262.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4768
    Cell Significance Index: 24.7700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4741
    Cell Significance Index: 13.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4719
    Cell Significance Index: 93.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4652
    Cell Significance Index: 57.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4578
    Cell Significance Index: 82.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4016
    Cell Significance Index: 11.5700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3051
    Cell Significance Index: 6.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2906
    Cell Significance Index: 13.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2840
    Cell Significance Index: 101.8500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2574
    Cell Significance Index: 35.3500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2527
    Cell Significance Index: 4.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2382
    Cell Significance Index: 14.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1637
    Cell Significance Index: 12.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1608
    Cell Significance Index: 18.4200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1501
    Cell Significance Index: 66.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1456
    Cell Significance Index: 6.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1417
    Cell Significance Index: 7.9500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1325
    Cell Significance Index: 6.1800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1102
    Cell Significance Index: 3.8300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1079
    Cell Significance Index: 2.8900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0760
    Cell Significance Index: 14.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0729
    Cell Significance Index: 1.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0694
    Cell Significance Index: 11.8600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0452
    Cell Significance Index: 0.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0444
    Cell Significance Index: 3.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0443
    Cell Significance Index: 2.8000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0422
    Cell Significance Index: 4.1700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0390
    Cell Significance Index: 1.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0213
    Cell Significance Index: 40.0200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0165
    Cell Significance Index: 0.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0151
    Cell Significance Index: 1.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0065
    Cell Significance Index: 2.9500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0030
    Cell Significance Index: 5.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0019
    Cell Significance Index: 2.9600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0008
    Cell Significance Index: -1.0700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0035
    Cell Significance Index: -2.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0037
    Cell Significance Index: -2.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0063
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0076
    Cell Significance Index: -4.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0148
    Cell Significance Index: -10.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0172
    Cell Significance Index: -13.0400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0182
    Cell Significance Index: -10.2500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0204
    Cell Significance Index: -2.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0296
    Cell Significance Index: -1.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0368
    Cell Significance Index: -2.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0369
    Cell Significance Index: -3.7700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0394
    Cell Significance Index: -4.5000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0493
    Cell Significance Index: -1.0500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0505
    Cell Significance Index: -1.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0531
    Cell Significance Index: -11.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0590
    Cell Significance Index: -16.9900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0646
    Cell Significance Index: -1.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0779
    Cell Significance Index: -9.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0905
    Cell Significance Index: -13.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1035
    Cell Significance Index: -4.5800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1110
    Cell Significance Index: -2.9200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1217
    Cell Significance Index: -6.3900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1283
    Cell Significance Index: -4.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1805
    Cell Significance Index: -18.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2058
    Cell Significance Index: -6.5900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2233
    Cell Significance Index: -2.8600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2292
    Cell Significance Index: -6.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2388
    Cell Significance Index: -5.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2540
    Cell Significance Index: -20.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2824
    Cell Significance Index: -4.8400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3012
    Cell Significance Index: -1.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3032
    Cell Significance Index: -18.5900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3244
    Cell Significance Index: -6.7900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3333
    Cell Significance Index: -9.5100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3404
    Cell Significance Index: -8.7500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3426
    Cell Significance Index: -3.1600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3550
    Cell Significance Index: -9.0700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3577
    Cell Significance Index: -5.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3847
    Cell Significance Index: -7.5100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4016
    Cell Significance Index: -12.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4041
    Cell Significance Index: -13.2300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4281
    Cell Significance Index: -9.8900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4794
    Cell Significance Index: -24.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4804
    Cell Significance Index: -16.8300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5380
    Cell Significance Index: -19.7500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The VHL gene is a single-copy gene located on chromosome 3p25.3, and it encodes a 213-kDa protein that consists of 12 zinc fingers and a proline-rich region. The VHL protein is a substrate for the ubiquitin-proteasome pathway and is involved in the regulation of the HIF-α pathway. It recognizes and binds to HIF-α, which is then ubiquitinated and degraded by the proteasome. The VHL protein also interacts with other proteins, including the von Hippel-Lindau disease protein, which is a transcriptional co-repressor. **Pathways and Functions** The VHL protein is involved in several key pathways, including: 1. **Hypoxia-Inducible Factor Alpha (HIF-α) Pathway**: The VHL protein recognizes and binds to HIF-α, which is then ubiquitinated and degraded by the proteasome. This pathway is critical for regulating cell growth, differentiation, and survival in response to hypoxia. 2. **Ubiquitin-Proteasome Pathway**: The VHL protein is a substrate for the ubiquitin-proteasome pathway, which is involved in the degradation of proteins that are no longer needed or are damaged. 3. **Cell Growth and Differentiation**: The VHL protein is involved in regulating cell growth and differentiation through its interaction with the HIF-α pathway. 4. **Apoptosis and Autophagy**: The VHL protein is also involved in regulating apoptosis and autophagy through its interaction with the ubiquitin-proteasome pathway. **Clinical Significance** Mutations or deletions in the VHL gene are associated with several types of cancer, including: 1. **Von Hippel-Lindau Disease**: This is a rare genetic disorder that is characterized by the development of hemangioblastomas, pheochromocytomas, and renal cell carcinoma. 2. **Renal Cell Carcinoma**: The VHL gene is a tumor suppressor gene that is involved in the regulation of cell growth and differentiation in the kidney. Mutations or deletions in the VHL gene can lead to the development of renal cell carcinoma. 3. **Hemangioblastomas**: These are benign tumors that are characterized by the abnormal growth of blood vessels. They are often associated with VHL disease. 4. **Pheochromocytomas**: These are rare tumors that are characterized by the abnormal growth of adrenal gland cells. In addition to its role in cancer, the VHL gene is also involved in other diseases, including: 1. **Amyloid Fibril Formation**: The VHL protein is involved in regulating the formation of amyloid fibrils, which are abnormal protein structures that are associated with several types of disease. 2. **Infectious Disease**: The VHL gene is involved in regulating the response to infectious disease through its interaction with the ubiquitin-proteasome pathway. In summary, the VHL gene is a critical tumor suppressor gene that plays a vital role in maintaining the integrity of the genome and preventing cancer. Its dysfunction can lead to the development of various types of cancer and other diseases.

Genular Protein ID: 3477011235

Symbol: VHL_HUMAN

Name: von Hippel-Lindau disease tumor suppressor

UniProtKB Accession Codes:

P40337 B2RE45 Q13599 Q6PDA9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 8 EMDB 4 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 7 RefSeq 2 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8493574

Title: Identification of the von Hippel-Lindau disease tumor suppressor gene.

PubMed ID: 8493574

DOI: 10.1126/science.8493574

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8733131

Title: Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.

PubMed ID: 8733131

DOI: 10.1093/hmg/5.5.639

PubMed ID: 9122164

Title: The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins.

PubMed ID: 9122164

DOI: 10.1073/pnas.94.6.2156

PubMed ID: 9671762

Title: A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.

PubMed ID: 9671762

DOI: 10.1073/pnas.95.15.8817

PubMed ID: 7660130

Title: Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.

PubMed ID: 7660130

DOI: 10.1126/science.7660130

PubMed ID: 9751722

Title: pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation.

PubMed ID: 9751722

DOI: 10.1073/pnas.95.20.11661

PubMed ID: 10635329

Title: Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.

PubMed ID: 10635329

DOI: 10.1016/s1097-2765(00)80233-6

PubMed ID: 10944113

Title: Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.

PubMed ID: 10944113

DOI: 10.1093/emboj/19.16.4298

PubMed ID: 11384984

Title: Muf1, a novel elongin BC-interacting leucine-rich repeat protein that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase.

PubMed ID: 11384984

DOI: 10.1074/jbc.m103093200

PubMed ID: 11641274

Title: FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.

PubMed ID: 11641274

DOI: 10.1101/gad.924501

PubMed ID: 11739384

Title: Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.

PubMed ID: 11739384

DOI: 10.1074/jbc.m108269200

PubMed ID: 12169691

Title: The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1.

PubMed ID: 12169691

DOI: 10.1074/jbc.m205040200

PubMed ID: 12032852

Title: The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.

PubMed ID: 12032852

DOI: 10.1038/sj.onc.1205437

PubMed ID: 16234850

Title: Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition.

PubMed ID: 16234850

DOI: 10.1139/o05-045

PubMed ID: 17981124

Title: SUMO-specific protease 1 is essential for stabilization of HIF1alpha during hypoxia.

PubMed ID: 17981124

DOI: 10.1016/j.cell.2007.08.045

PubMed ID: 19208626

Title: Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

PubMed ID: 19208626

DOI: 10.1074/jbc.m808737200

PubMed ID: 19584355

Title: Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL.

PubMed ID: 19584355

DOI: 10.1126/scisignal.2000444

PubMed ID: 22286099

Title: The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity.

PubMed ID: 22286099

DOI: 10.1038/ncb2424

PubMed ID: 23401859

Title: DCNL1 functions as a substrate sensor and activator of cullin 2-RING ligase.

PubMed ID: 23401859

DOI: 10.1128/mcb.01342-12

PubMed ID: 34290272

Title: VHL suppresses RAPTOR and inhibits mTORC1 signaling in clear cell renal cell carcinoma.

PubMed ID: 34290272

DOI: 10.1038/s41598-021-94132-5

PubMed ID: 12004076

Title: Structure of an HIF-1alpha-pVHL complex: hydroxyproline recognition in signaling.

PubMed ID: 12004076

DOI: 10.1126/science.1073440

PubMed ID: 12050673

Title: Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.

PubMed ID: 12050673

DOI: 10.1038/nature00767

PubMed ID: 10205047

Title: Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.

PubMed ID: 10205047

DOI: 10.1126/science.284.5413.455

PubMed ID: 8069849

Title: Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.

PubMed ID: 8069849

PubMed ID: 8183553

Title: Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines.

PubMed ID: 8183553

PubMed ID: 7987306

Title: Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PubMed ID: 7987306

DOI: 10.1093/hmg/3.8.1303

PubMed ID: 7728151

Title: Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PubMed ID: 7728151

DOI: 10.1002/humu.1380050109

PubMed ID: 8634692

Title: Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PubMed ID: 8634692

DOI: 10.1093/hmg/4.12.2233

PubMed ID: 8592333

Title: Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

PubMed ID: 8592333

DOI: 10.1136/jmg.32.11.885

PubMed ID: 8825918

Title: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

PubMed ID: 8825918

DOI: 10.1136/jmg.32.12.934

PubMed ID: 8730290

Title: Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

PubMed ID: 8730290

DOI: 10.1136/jmg.33.4.328

PubMed ID: 8956040

Title: Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

PubMed ID: 8956040

DOI: 10.1002/(sici)1098-1004(1996)8:4<348::aid-humu8>3.0.co;2-3

PubMed ID: 9452032

Title: Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

PubMed ID: 9452032

DOI: 10.1002/humu.1380110111

PubMed ID: 9452106

Title: Three novel mutations in the von Hippel-Lindau tumour suppressor gene in Italian patients.

PubMed ID: 9452106

DOI: 10.1002/humu.1380110185

PubMed ID: 10627136

Title: Variable penetrance of familial pheochromocytoma associated with the von Hippel-Lindau gene mutation, S68W.

PubMed ID: 10627136

DOI: 10.1002/(sici)1098-1004(1998)12:1<71::aid-humu16>3.0.co;2-4

PubMed ID: 9829911

Title: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PubMed ID: 9829911

DOI: 10.1002/(sici)1098-1004(1998)12:6<417::aid-humu8>3.0.co;2-k

PubMed ID: 9829912

Title: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PubMed ID: 9829912

DOI: 10.1002/(sici)1098-1004(1998)12:6<424::aid-humu9>3.0.co;2-h

PubMed ID: 9663592

Title: Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PubMed ID: 9663592

DOI: 10.1002/(sici)1097-0215(19980729)77:3<337::aid-ijc5>3.0.co;2-p

PubMed ID: 10533030

Title: Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

PubMed ID: 10533030

DOI: 10.1002/(sici)1096-8628(19991119)87:2<163::aid-ajmg7>3.0.co;2-a

PubMed ID: 10408776

Title: Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PubMed ID: 10408776

DOI: 10.1002/(sici)1098-1004(1999)13:6<464::aid-humu6>3.0.co;2-a

PubMed ID: 11986208

Title: Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.

PubMed ID: 11986208

DOI: 10.1182/blood.v99.10.3562

PubMed ID: 12000816

Title: Germ-line mutations in nonsyndromic pheochromocytoma.

PubMed ID: 12000816

DOI: 10.1056/nejmoa020152

PubMed ID: 12844285

Title: Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

PubMed ID: 12844285

DOI: 10.1086/377108

PubMed ID: 14500403

Title: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PubMed ID: 14500403

PubMed ID: 12393546

Title: Mutations in the VHL gene in sporadic apparently congenital polycythemia.

PubMed ID: 12393546

DOI: 10.1182/blood-2002-06-1843

PubMed ID: 16502427

Title: The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

PubMed ID: 16502427

DOI: 10.1002/ajmg.a.31116

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

Sequence Information:

  • Length: 213
  • Mass: 24153
  • Checksum: BA5D6765FBC16EA7
  • Sequence:
    • MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA EEEMEAGRPR 
PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT LPPGTGRRIH SYRGHLWLFR 
DAGTHDGLLV NQTELFVPSL NVDGQPIFAN ITLPVYTLKE RCLQVVRSLV KPENYRRLDI 
VRSLYEDLED HPNVQKDLER LTQERIAHQR MGD

Genular Protein ID: 3206919517

Symbol: A0A0S2Z4K1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4K1

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 1 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 Pfam 4 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 172
  • Mass: 19654
  • Checksum: 46E2C22E8C98393D
  • Sequence:
    • MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA EEEMEAGRPR 
PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT LPPGTGRRIH SYRVYTLKER 
CLQVVRSLVK PENYRRLDIV RSLYEDLEDH PNVQKDLERL TQERIAHQRM GD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.