VHLL - VHL like Gene

Also Known as VLP; VHLP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 391104

About VHLL

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,298,624-156,299,307 (from NCBI)

This gene has 1 transcript (splice variant), 152 orthologues and 1 paralogue.

Summary

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]

VHLL Products (1)

mRNA	Protein	Name
NM_001004319.3	NP_001004319.1	von Hippel-Lindau-like protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VHLL Protein Structure

VHL

0
100
139 a.a.

Protein Preferred Names	Protein Names
von Hippel-Lindau-like protein	VHL pseudogene

VHLL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VHLL	Q6RSH7	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
Intra	VHLL	Q6RSH7	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
Intra	VHLL	Q6RSH7	DAZAP2	Homo sapiens	Q15038	Y2H Prey Pooling	25416956
Intra	VHLL	Q6RSH7	DAZAP2	Homo sapiens	Q15038	Y2H Prey Pooling	32296183
Intra	VHLL	Q6RSH7	DAZAP2	Homo sapiens	Q15038	Y2H Array	32296183
Intra	VHLL	Q6RSH7	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	VHLL	Q6RSH7	RBPMS	Homo sapiens	Q93062-3	Y2H Prey Pooling	32296183
Intra	VHLL	Q6RSH7	RBPMS	Homo sapiens	Q93062-3	Y2H Array	32296183
Intra	VHLL	Q6RSH7	RBPMS	Homo sapiens	Q93062-3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pancreatic Serous Cystadenoma
Erythrocytosis, Familial, 8	Diphosphoglycerate Mutase Deficiency Of Erythrocyte ECYT8 Bisphosphoglycerate Mutase Deficiency Bisphosphoglyceromutase Deficiency Bpgm Deficiency Dpgm Deficiency Deficiency Of Bisphosphoglycerate Mutase Familial Erythrocytosis 8 Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency Erythrocytosis, Familial, Type 8
Erythrocytosis, Familial, 2	Chuvash Polycythemia ECYT2 Familial Erythrocytosis 2 Autosomal Recessive Benign Erythrocytosis Polycythemia, Vhl-Dependent Chuvash Erythromatosis Chuvash Type Polycythemia Chuvash Erythrocytosis Von Hippel-Lindau-Dependent Polycythemia Polycythemia Chuvash Type Vhl-Dependent Polycythemia Erythrocytosis, Familial, Type 2
Primary Polycythemia	Familial Erythrocytosis Familiar Polycythemia Benign Familial Polycythemia Congenital Erythrocytosis Familial Polycythemia Hereditary Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Familial Polycythemia Vera Primary Familial Polycythaemia Primary Inherited Polycythaemia
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P5819	xStAx-VHLL		99.95%	Unkown
HY-P5819A	xStAx-VHLL TFA	Inhibitor	99.95%	Unkown
HY-148880	VHLL-BCN		96.30%	Unkown
HY-RS15649	VHLL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	VHLL	MGD	MGI:103223