| Tdark | Von Hippel-Lindau-like protein |
Functions as a dominant-negative VHL to serve as a protector of HIFalpha.
Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]
Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]
Comments
| Disease | Z-score | Confidence |
|---|---|---|
| Pancreatic serous cystadenoma 1 | 4.564 | 2.3 |
| Von Hippel-Lindau disease 11 | 4.245 | 2.1 |
| Familial hyperlipidemia 6 | 3.777 | 1.9 |
| PMID | Year | Title |
|---|---|---|
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 20139978 | 2010 | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 14757845 | 2004 | Molecular cloning and characterization of the von Hippel-Lindau-like protein. |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| 10475385 | 1999 | Processed pseudogene from the von Hippel-Lindau disease gene is located on human chromosome 1. |
| 7566098 | 1995 | Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. |
