VHLL - VHL like Gene

中文名称：VHL 类

种属: Homo sapiens

同用名: VLP; VHLP

基因 ID: 391104 | 基因类型: protein coding

关于 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.

功能概要

Von Hippel-Lindau (VHL) 肿瘤抑制蛋白是 E3 泛素连接酶复合物的一个组成部分，它选择性地泛素化缺氧诱导因子 (HIF) 转录因子的 α 亚基，用于蛋白酶体介导的降解。 VHL 失活导致 VHL 疾病和散发性肾癌。该基因编码的 VHL 同系物缺少 VHL 功能所必需的两个关键结构域之一。该基因可能有助于调节胎盘发育过程中的氧稳态和新血管形成。该基因是无内含子的，也可以解释为位于 3 号染色体上的 VHL 基因座的逆转录假基因。但是，由于 PMID:14757845 中的证据强烈表明该蛋白质已被翻译，该蛋白质出现在该 RefSeq 中。同一份出版物还指出，该蛋白结合 HIF α 但无法募集 E3 泛素连接酶复合物，因此它起到显性失活 VHL 蛋白和 HIF α 保护剂的作用。[RefSeq 提供，2010 年 1 月]

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 基因产物(1)

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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VHLL 蛋白结构

VHL

0
100
139 a.a.

蛋白主名

其他名称

von Hippel-Lindau-like protein

VHL pseudogene

VHLL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-P5819A	xStAx-VHLL TFA	Inhibitor	99.22%	否
HY-P5819	xStAx-VHLL		99.37%	否
HY-148880	VHLL-BCN		/	否
HY-RS15649	VHLL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	VHLL	MGD	MGI:103223

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