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VHLL Gene

protein-coding   GIFtS: 40

GC01M154535
von Hippel-Lindau tumor suppressor-like
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for VHLL

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
VLP 1, 2, 3
Descriptions
VHL-like protein 3
von Hippel-Lindau tumor suppressor-like 2
von-Hippel-Lindau-like protein 2
External Ids
HGNC: 306661
Entrez Gene: 3911042
UniProtKB: Q6RSH73
Ensembl: ENSG000001890307
Search outside databases for aliases for VHLL gene

Previous GC identifer: GC01M153081

Summaries
for VHLL

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7
Function: Functions as a dominant-negative VHL to serve as a protector of HIFalpha

Genomic Location
for VHLL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the VHLL gene  

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21

VHLL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M154535:     (about GC identifiers)

Start:
 154,535,039 bp from pter
End:
 154,535,714 bp from pter
Size:
 676 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  

Proteins
for VHLL

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7 (See protein sequence)
Recommended Name: Von Hippel-Lindau-like protein  
Size: 139 amino acids; 15781 Da
Subunit: Interacts via the beta domain with the ODD domain of HIF1A This interaction is independent
of prolyl hydroxylation of HIF1A
Miscellaneous: Has little or no E3 ubiquitin ligase activity as it lacks the alpha domain required
for nucleating the multiprotein E3 ubiquitin ligase complex
Secondary accessions: A1L4M4

REFSEQ proteins: NP_001004319.1  

ENSEMBL proteins: 
ENSP00000339366 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Browse Abnova for Human Recombinant Proteins
              OriGene Purified Recombinant Human Protein: VHLL 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
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Antibodies for VHLL: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Search Novus for antibodies for VHLL

Assays for VHLL: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
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Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for VHLL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro domain/family:
 IPR002714 Tumour_suppress_VHL-disease


   GeneDecks  VHLL for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q6RSH7

ProtoNet protein and cluster: Q6RSH7

Gene Function
for VHLL

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (VHLL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001004319

              Applied Biosystems Silencer® siRNAs for VHLL

              Sigma-Aldrich siRNA for VHLL  
                     Sigma-Aldrich shRNA for VHLL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001004319
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001004319
                                 untagged cDNA clone in CMV expression vector: NM_001004319 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001004319

UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7
Function: Functions as a dominant-negative VHL to serve as a protector of HIFalpha

Pathways & Interactions
for VHLL

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



4 Interacting proteins for VHLL (ENSP000003393663) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
CD276ENSP000003200843STRING (score=.841)
AFPENSP000002263593STRING (score=.736)
TSG101ENSP000002519683STRING (score=.72)
--ENSP000003715733STRING (score=.736)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016567 protein ubiquitination IEA--
About this table

Drugs & Compounds
for VHLL

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for VHLL

Transcripts
for VHLL

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (VHLL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001004319

              Sigma-Aldrich siRNA for VHLL  
                     Sigma-Aldrich shRNA for VHLL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001004319  

REFSEQ mRNAs for VHLL gene: 

NM_001004319.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001004319  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001004319
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001004319
                                 untagged cDNA clone in CMV expression vector: NM_001004319 

Additional cDNA sequence: 

AY494836.1 BC130596.1 BC130598.1 

1 DOTS entry:

DT.102819423 

3 AceView cDNA sequences:

AY494836 NM_001004319 AA324790 

highest scoring ESTs for VHLL:

AA324790 AY494836 BC130596 BC130598 NM_001004319 

Unigene Cluster for VHLL:

Von Hippel-Lindau tumor suppressor-like
Hs.532378
Unigene Representative Sequence: AY494836


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000339922  

Expression
for VHLL

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

VHLL expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for VHLL

1Data from GNF BioGPS
    About these images

About these images

CGAP SAGE TAG: ATAAGCTTCT

SOURCE GeneReport for Unigene cluster: Hs.532378

UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7
Tissue specificity: Abundantly expressed in the placenta

Orthologs
for VHLL

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for VHLL gene from 2 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
chimpanzee
(Pan troglodytes)		 VHLL1   -- von Hippel-Lindau tumor suppressor-like 97.87(n)
95.74(a)		 741715  XM_001144433.1  XP_001144433.1 
mouse
(Mus musculus)		 Vhll5 -- von Hippel-Lindau tumor suppressor-like   -- -
About this table        Species with no ortholog for VHLL

ENSEMBL Gene Tree for VHLL

Paralogs
for VHLL

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for VHLL gene
VHL2  

SNPs/Variants
for VHLL

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/17 NCBI SNPs in VHLL are shown (see all 17 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 19)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
--
rs121287851,2
A154536013(+) cctgaA/Ggtcgg 1 -- ng310--------
--
rs715919361,2
--154536428(+) GTGGT-/GGAAAA 1 -- ng310--------
--
rs75238271,2
--154534954(+) actccC/Ggacct 1 -- ng510--------
--
rs75374861,2
--154534593(+) ggaggC/Tggagg 1 -- ng510--------
--
rs75452451,2
--154534594(+) gaggtA/Ggaggt 1 -- ng510--------
--
rs11416611,2
--154535315(-) AGGTCA/TCACTG 1 H/L mis10--------
--
rs29857101,2
--154536493(+) gggagC/Gccgag 1 -- ng310--------
--
rs75452401,2
--154534577(+) gaatcA/Gcttga 1 -- ng510--------
--
rs75374811,2
--154534586(+) gaaccC/Tgggag 1 -- ng510--------
--
rs717632681,2
--154536466(+) GCCCA-/CCCGCCT 1 -- ng310--------
About this table

HapMap Linkage Disequilibrium images for VHLL (up to first 250kb)

Disorders & Mutations
for VHLL

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

   --

Medical News
for VHLL

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for VHLL

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

3 PubMed articles for VHLL gene:

Search for VHLL

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing VHLL

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 391104 HGNC: 30666 AceView: VHLL Ensembl:ENSG00000189030 euGenes: HUgn391104
ECgene: VHLL H-InvDB: VHLL

Other Databases showing VHLL

(According to HUGE)
About This Section

   --

Specialized Databases showing VHLL

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
ATLAS Chromosomes in Cancer entry for VHLL Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies
for VHLL

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for VHLL

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for VHLL:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for VHLL-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for VHLL Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for VHLL Browse small molecules at Sigma-Aldrich
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 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for VHLL

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