VHLL Gene
protein-coding GIFtS: 40
GCID: GC01M156268
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von Hippel-Lindau tumor suppressor-like(Previous name: VHL pseudogene )
(Previous symbol: VHLP)
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Aliases
for VHLL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Von Hippel-Lindau Tumor Suppressor-Like1 2 | | VLP1 2 3 | | VHLP1 2 | | VHL Pseudogene1 2 | | VHL-Like Protein2 3 | | Von Hippel-Lindau-Like Protein2 |
Export aliases for VHLL gene to outside databasesPrevious GC identifers: GC01M153081 GC01M154535 GC01M127628 |
Summaries
for VHLL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for VHLL:
Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectivelyubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediateddegradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog thatlacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygenhomeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpretedas a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in thisRefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicatesthat this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions asa dominant-negative VHL protein and a protector of HIF alpha. (provided by RefSeq, Jan 2010)
UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7Function: Functions as a dominant-negative VHL to serve as a protector of HIFalpha
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Genomic Views
for VHLL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the VHLL gene promoter:
SRF SRF (504 AA) Nkx2-5 CUTL1 YY1 Max HOXA5 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for VHLL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VHLL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q22 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q22VHLL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M156268: view genomic region
(about GC identifiers)
Start:
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156,268,415 bp from pter |
End:
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156,269,428 bp from pter |
Size:
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1,014 bases |
Orientation:
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minus strand |
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Proteins
for VHLL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 prolylhydroxylation of HIF1A
Miscellaneous: Has little or no E3 ubiquitin ligase activity as it lacks the alpha domain required for nucleating themultiprotein E3 ubiquitin ligase complex
Secondary accessions: A1L4M4Explore the universe of human proteins at neXtProt for VHLL: NX_Q6RSH7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6RSH7
VHLL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001004319.1
ENSEMBL proteins: ENSP00000464258
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
VHLL for ontologies About GeneDecksing
VHLL Antibody Products:
Assay Products for VHLL: |
Protein
Domains /
Families
for VHLL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
VHLL for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6RSH7ProtoNet protein and cluster: Q6RSH7 |
Function
for VHLL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7Function: Functions as a dominant-negative VHL to serve as a protector of HIFalpha
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VHLL |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
VHLL for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for VHLL:
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Pathways & Interactions
for VHLL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VHLL
1 Interacting protein for VHLL (Q6RSH73) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
-- | -- | | GO:0001525 | angiogenesis |
-- | -- | | GO:0001666 | response to hypoxia |
-- | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
-- | -- | | GO:0016567 | protein ubiquitination |
IEA | -- |
VHLL for ontologies About GeneDecksing
|
Drugs & Compounds
for VHLL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for VHLL
Search CenterWatch for drugs/clinical trials and news about VHLL
|
Transcripts
for VHLL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for VHLL gene: NM_001004319.2 Unigene Cluster for VHLL: Von Hippel-Lindau tumor suppressor-like Hs.532378 Unigene Representative Sequence: NM_0010043191 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000339922(uc001fok.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: VHLL (NM_001004319) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VHLL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VHLL |
Additional cDNA sequence: AY494836.1 BC130596.1 BC130598.1 1 DOTS entry: DT.102819423 3 AceView cDNA sequences: NM_001004319 AY494836 AA324790
GeneLoc Exon Structure
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Expression
for VHLL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| VHLL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATAAGCTTCT
About this image
See VHLL Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.532378
UniProtKB/Swiss-Prot: VHLL_HUMAN, Q6RSH7Tissue specificity: Abundantly expressed in the placenta
SABiosciences Custom PCR Arrays for VHLL
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VHLL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat VHLL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VHLL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VHLL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VHLL |
Orthologs
for VHLL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for VHLL gene from 4/10 species (see all 10) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
VHL6 |
Uncharacterized protein |
29(a) |
1 → many |
12(20073069-20074941) |
lizard
(Anolis carolinensis) |
Reptilia |
VHL6 |
-- |
32(a) |
1 → many |
GL343273.1(942633-946028) |
zebrafish
(Danio rerio) |
Actinopterygii |
vhl6vhll6 |
von Hippel-Lindau tumor suppressor like |
25(a)21(a) |
1 ↔ manypossible ortholog |
6(40382134-40385973) 4(12031164-12032545) |
fruit fly
(Drosophila melanogaster) |
Insecta |
Vhl6 |
von Hippel-Lindau |
14(a) |
1 → many |
2R(7167230-7168538) |
ENSEMBL Gene Tree for VHLL (if available)
TreeFam Gene Tree for VHLL (if available) |
Paralogs
for VHLL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for VHLL gene
- VHL2
1 SIMAP similar gene for VHLL using alignment to 1 protein entry: VHLL_HUMAN:VHL
VHLL for paralogs About GeneDecksing
|
Genomic Variants
for VHLL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for VHLL (156268415 - 156269428 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for VHLL: -- | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for VHLL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
VHLL for disorders About GeneDecksing
3  diseases for VHLL: About MalaCardsvon hippel-lindau disease kidney cancer hypoxia
Export disorders for VHLL gene to outside databases
|
Publications
for VHLL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for VHLL gene integrated from 9 sources:
(articles sorted by number of sources associating them with VHLL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning and characterization of the von Hippel-Lindau-like protein. (PubMed id 14757845)1, 2, 3 Qi H.... Ohh M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Processed pseudogene from the von Hippel-Lindau disease gene is located on human chromosome 1. (PubMed id 10475385)1 Bradley J.F. and Rothberg P.G. (1999)
- Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)
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External Searches for VHLL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing VHLL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing VHLL gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing VHLL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for VHLL gene:
Search GeneIP for patents involving VHLL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for VHLL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for VHLL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VHLL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VHLL | | | OriGene Protein Over-expression Lysate for VHLL | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for VHLL | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHLL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 | | | VHLL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VHLL |
|  |  |  | | | | Search ThermoFisher Antibodies for VHLL |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VHLL |
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