Protein name:
Von Hippel-Lindau disease tumor suppressor ;
Alternative:
pVHL ;Protein G7 ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Component of the VCB (VHL-Elongin BC-CUL2) complex; this complex acts as a ubiquitin-ligase E3 and directs proteasome-dependent degradation of targeted proteins. Interacts with CUL2; this interaction is dependent on the integrity of the trimeric VBC complex. Interacts (via the beta domain) with HIF1A (via the NTAD domain); this interaction mediates degradation of HIF1A in normoxia and, in hypoxia, prevents ubiqitination and degradation of HIF1A by mediating hypoxia-induced translocation to the nucleus, a process which requires a hypoxia-dependent regulatory signal. Interacts with RNF139 and USP33. Interacts with PHF17.
Function:
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases.
Subcellular Location:
Isoform 3
Cytoplasm
Nucleus
Equally distributed between the nucleus and the cytoplasm but not membrane-associated.
Protein Attributes:
50:
MPRRAENWDE | AEVGAEEAGV | EEYGPEEDGG | EESGAEESGP | EESGPEELGA |
100:
EEEMEAGRPR | PVLRSVNSRE | PSQVIFCNRS | PRVVLPVWLN | FDGEPQPYPT |
150:
LPPGTGRRIH | SYRGHLWLFR | DAGTHDGLLV | NQTELFVPSL | NVDGQPIFAN |
200:
ITLPVYTLKE | RCLQVVRSLV | KPENYRRLDI | VRSLYEDLED | HPNVQKDLER |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
Dog
ELISA Kit for Human Von Hippel-Lindau disease tumor suppressor
ELISA Kit for Human Von Hippel-Lindau disease tumor suppressor
ELISA Kit for Human Von Hippel-Lindau disease tumor suppressor
ELISA Kit for Human Von Hippel-Lindau disease tumor suppressor
CLIA Kit for Human Von Hippel-Lindau disease tumor suppressor
CLIA Kit for Human Von Hippel-Lindau disease tumor suppressor
CLIA Kit for Human Von Hippel-Lindau disease tumor suppressor
CLIA Kit for Human Von Hippel-Lindau disease tumor suppressor
Polyclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Polyclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Polyclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Polyclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Monoclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Monoclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Monoclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Monoclonal Antibody for Human Von Hippel-Lindau disease tumor suppressor
Protein for Human Von Hippel-Lindau disease tumor suppressor
Protein for Human Von Hippel-Lindau disease tumor suppressor
Protein for Human Von Hippel-Lindau disease tumor suppressor
Protein for Human Von Hippel-Lindau disease tumor suppressor
R&D Technical Data
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Precision
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Recovery
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Linearity
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Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1);VARIANTS VHLD ILE-75 DEL AND ARG-82--84-VAL DEL;ALTERNATIVE SPLICING (ISOFORM 2)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.
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Submitted (2005-07) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2);VARIANT TYR-110
6.
Wenzel M.
Submitted (1996-04) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 33-67 AND 156-213;VARIANT PRO-163
tissue :
Renal cell carcinoma .
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : DEVELOPMENTAL STAGE;ALTERNATIVE SPLICING (ISOFORMS 1 AND 2)
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH CUL2
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ALTERNATIVE SPLICING (ISOFORM 3)
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH ELONGIN BC COMPLEX
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION (ISOFORM 3);SUBCELLULAR LOCATION
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH CHAPERONES;VARIANT VHLD PRO-158
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH HIF1A;FUNCTION;CHARACTERIZATION OF VARIANT PHE-162;MUTAGENESIS OF TYR-98
14.
"Muf1, a novel elongin BC-interacting leucine-rich repeat protein that can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase."
Kamura T.
,
Burian D.
,
Yan Q.
,
Schmidt S.L.
,
Lane W.S.
,
Querido E.
,
Branton P.E.
,
Shilatifard A.
,
Conaway R.C.
,
Conaway J.W.
J. Biol. Chem.276:29748-29753(2001)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION IN E3 UBIQUITIN-PROTEIN LIGASE COMPLEXES
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH HIF1AN; HIF1A AND HISTONE DEACETYLASES
tissue :
Brain .
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH USP33
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH JADE1
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH RNF139
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION;INTERACTION WITH HIF1A
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH EPAS1
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH ADRB2;SUBCELLULAR LOCATION;FUNCTION
22.
"The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity."
Foxler D.E.
,
Bridge K.S.
,
James V.
,
Webb T.M.
,
Mee M.
,
Wong S.C.
,
Feng Y.
,
Constantin-Teodosiu D.
,
Petursdottir T.E.
,
Bjornsson J.
,
Ingvarsson S.
,
Ratcliffe P.J.
,
Longmore G.D.
,
Sharp T.V.
Nat. Cell Biol.14:201-208(2012)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : INTERACTION WITH LIMD1; AJUBA AND WTIP;IDENTIFICATION IN A COMPLEX WITH LIMD1; EGLN1/PHD2; TCEB2 AND CUL2
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 54-213 IN COMPLEX WITH 556-575 OF HIF1A; TCEB1 AND TCEB2
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 52-213 IN COMPLEX WITH 549-582 OF HIF1A; 17-112 OF TCEB1 AND TCEB2
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 54-213 IN COMPLEX WITH 17-112 OF TCEB1 AND TCEB2
26.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT HEMANGIOBLASTOMA PHE-135
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS IN LUNG CANCER
28.
"Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype."
Crossey P.A.
,
Richards F.M.
,
Foster K.
,
Green J.S.
,
Prowse A.
,
Latif F.
,
Lerman M.I.
,
Zbar B.
,
Affara N.A.
,
Ferguson-Smith M.A.
,
Maher E.R.
Hum. Mol. Genet.3:1303-1308(1994)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD
29.
"Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype."
Chen F.
,
Kishida T.
,
Yao M.
,
Hustad T.
,
Glavac D.
,
Dean M.
,
Gnarra J.R.
,
Orcutt M.L.
,
Duh F.-M.
,
Glenn G.
,
Green J.S.
,
Hsia Y.E.
,
Lamiell J.
,
Li H.
,
Wei M.H.
,
Schmidt L.
,
Tory K.
,
Kuzmin I.
,
Stackhouse T.
,
Latif F.
,
Linehan W.M.
,
Lerman M.I.
,
Zbar B.
more...
Hum. Mutat.5:66-75(1995)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD
30.
"Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan."
Kondo K.
,
Sakai N.
,
Kaneko S.
,
Kobayashi K.
,
Hosaka M.
,
Ito S.
,
Fujii S.
,
Yamamoto I.
,
Kim I.
,
Miyagami M.
,
Shidara N.
,
Shinohara N.
,
Koyanagi T.
,
Kato N.
,
Yamanaka H.
,
Kuratu J.
,
Fujioka M.
,
Nakatsu H.
,
Shimazaki J.
,
Yoshida J.
,
Sugita K.
,
Hirao Y.
,
Okajima E.
,
Tanigawa T.
,
Sato S.
,
Fujino H.
,
Nagata M.
,
Kanayama H.
,
Kagawa S.
,
Yamashima T.
,
Furuta T.
,
Saito Y.
,
Kanno H.
,
Yao M.
,
Shuin T.
more...
Hum. Mol. Genet.4:2233-2237(1995)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS VHLD
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD LEU-84 AND TRP-167
32.
"Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas."
Eng C.
,
Crossey P.A.
,
Mulligan L.M.
,
Healey C.S.
,
Houghton C.
,
Prowse A.
,
Chew S.L.
,
Dahia P.L.M.
,
O'Riordan J.L.H.
,
Toledo S.P.A.
,
Smith D.P.
,
Maher E.R.
,
Ponder B.A.J.
J. Med. Genet.32:934-937(1995)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS VHLD SER-114; SER-119; GLU-143 AND ARG-164
33.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD PRO-96; VAL-116; ARG-118; PHE-166; ASP-170 AND GLU-186 DEL
34.
"Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan."
Zbar B.
,
Kishida T.
,
Chen F.
,
Schmidt L.
,
Maher E.R.
,
Richards F.M.
,
Crossey P.A.
,
Webster A.R.
,
Affara N.A.
,
Ferguson-Smith M.A.
,
Brauch H.
,
Glavac D.
,
Neumann H.P.H.
,
Tisherman S.
,
Mulvihill J.J.
,
Gross D.J.
,
Shuin T.
,
Whaley J.
,
Seizinger B.
,
Kley N.
,
Olschwang S.
,
Boisson C.
,
Richard S.
,
Lips C.H.M.
,
Linehan W.M.
,
Lerman M.I.
more...
Hum. Mutat.8:348-357(1996)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD LEU-65; TRP-65; GLY-74; PHE-76 DEL; ILE-76; HIS-78; SER-78; THR-78; ARG-80; ASN-80; ILE-80; SER-81; ALA-86; LEU-86; ARG-88; SER-88; PRO-89; ARG-101; ARG-111; ASN-111; CYS-114; TYR-115; CYS-117; PRO-118; GLY-121; LEU-130; PRO-158; VAL-158; PRO-161; ARG-162; PHE-162; TYR-162; TRP-162; ARG-164; GLN-167; TRP-167; GLY-170; PRO-178; VAL-180; ARG-184; PRO-184; LYS-186; GLN-188 AND TRP-200
35.
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Cited for : VARIANTS VHLD PRO-38; LEU-76 AND PHE-162
36.
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Cited for : VARIANT VHLD THR-149
37.
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Cited for : VARIANT VHLD TRP-68
38.
"Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene."
Stolle C.
,
Glenn G.
,
Zbar B.
,
Humphrey J.S.
,
Choyke P.
,
Walther M.
,
Pack S.
,
Hurley K.
,
Andrey C.
,
Klausner R.
,
Linehan W.M.
Hum. Mutat.12:417-423(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD TRP-65; SER-76; SER-81; ARG-86; ARG-88; GLY-101; PRO-107; ASN-111; CYS-117; THR-131; PHE-162; GLY-167; ASP-175; PRO-184 AND LYS-186
39.
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Cited for : VARIANTS VHLD LYS-52; LEU-65; LYS-70; ASN-80; ARG-80; SER-86; SER-88; LEU-91; ALA-104; PRO-105; GLN-115; CYS-117; PRO-118; LEU-130; LYS-131; SER-136; ASP-156; CYS-156; ILE-157; PRO-158; GLN-161; TRP-162; PHE-166; GLN-167; TRP-167; GLY-170; PRO-188 AND TRP-200
40.
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Cited for : VARIANTS PHEOCHROMOCYTOMA LEU-25; PRO-63; PRO-64 AND THR-147
41.
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Cited for : VARIANTS VHLD CYS-93; GLY-155 AND ILE-157
42.
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Cited for : VARIANT VHLD ASN-112
43.
"Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC."
Gallou C.
,
Joly D.
,
Mejean A.
,
Staroz F.
,
Martin N.
,
Tarlet G.
,
Orfanelli M.T.
,
Bouvier R.
,
Droz D.
,
Chretien Y.
,
Marechal J.M.
,
Richard S.
,
Junien C.
,
Beroud C.
Hum. Mutat.13:464-475(1999)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VHLD
44.
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Cited for : VARIANT RCC PRO-163;CHARACTERIZATION OF VARIANT RCC PRO-163
45.
"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group
,
Neumann H.P.H.
,
Bausch B.
,
McWhinney S.R.
,
Bender B.U.
,
Gimm O.
,
Franke G.
,
Schipper J.
,
Klisch J.
,
Altehoefer C.
,
Zerres K.
,
Januszewicz A.
,
Smith W.M.
,
Munk R.
,
Manz T.
,
Glaesker S.
,
Apel T.W.
,
Treier M.
,
Reineke M.
,
Walz M.K.
,
Hoang-Vu C.
,
Brauckhoff M.
,
Klein-Franke A.
,
Klose P.
,
Schmidt H.
,
Maier-Woelfle M.
,
Peczkowska M.
,
Szmigielski C.
,
Eng C.
more...
N. Engl. J. Med.346:1459-1466(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS PHEOCHROMOCYTOMA ALA-65; TRP-68; ASN-80; SER-93; CYS-93; HIS-98; GLY-107; LEU-119; ILE-122; CYS-136; ASN-156; CYS-156; GLN-161; PRO-161; TRP-167; GLN-167; VAL-188 AND GLN-198
46.
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Cited for : VARIANTS ECYT2 VAL-188; ASP-191; SER-192 AND TRP-200
47.
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Cited for : VARIANTS PHEOCHROMOCYTOMA LEU-25 AND CYS-156
48.
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Cited for : ERRATUM
49.
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Cited for : VARIANTS ECYT2 TYR-126; LEU-130 AND TRP-200
50.
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Cited for : VARIANT VHLD LEU-84
51.
"Patterns of somatic mutation in human cancer genomes."
Greenman C.
,
Stephens P.
,
Smith R.
,
Dalgliesh G.L.
,
Hunter C.
,
Bignell G.
,
Davies H.
,
Teague J.
,
Butler A.
,
Stevens C.
,
Edkins S.
,
O'Meara S.
,
Vastrik I.
,
Schmidt E.E.
,
Avis T.
,
Barthorpe S.
,
Bhamra G.
,
Buck G.
,
Choudhury B.
,
Clements J.
,
Cole J.
,
Dicks E.
,
Forbes S.
,
Gray K.
,
Halliday K.
,
Harrison R.
,
Hills K.
,
Hinton J.
,
Jenkinson A.
,
Jones D.
,
Menzies A.
,
Mironenko T.
,
Perry J.
,
Raine K.
,
Richardson D.
,
Shepherd R.
,
Small A.
,
Tofts C.
,
Varian J.
,
Webb T.
,
West S.
,
Widaa S.
,
Yates A.
,
Cahill D.P.
,
Louis D.N.
,
Goldstraw P.
,
Nicholson A.G.
,
Brasseur F.
,
Looijenga L.
,
Weber B.L.
,
Chiew Y.-E.
,
DeFazio A.
,
Greaves M.F.
,
Green A.R.
,
Campbell P.
,
Birney E.
,
Easton D.F.
,
Chenevix-Trench G.
,
Tan M.-H.
,
Khoo S.K.
,
Teh B.T.
,
Yuen S.T.
,
Leung S.Y.
,
Wooster R.
,
Futreal P.A.
,
Stratton M.R.
more...
Nature446:153-158(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS [LARGE SCALE ANALYSIS] LEU-25 AND SER-86