VHLL - VHL like Gene

Homo sapiens

Also known as VLP; VHLP

Gene ID: 391104 | Gene type: protein coding

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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P5819A	xStAx-VHLL TFA	Inhibitor	99.22%	Unkown
HY-P5819	xStAx-VHLL		99.37%	Unkown
HY-148880	VHLL-BCN		/	Unkown
HY-RS15649	VHLL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	VHLL	MGD	MGI:103223

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