Human Gene VHLL (ENST00000339922.5_6) from GENCODE V47lift37

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Description: VHL like (from RefSeq NM_001004319.3)
Gencode Transcript: ENST00000339922.5_6
Gencode Gene: ENSG00000189030.10_8
Transcript (Including UTRs)
Position: hg19 chr1:156,268,415-156,269,098 Size: 684 Total Exon Count: 1 Strand: -
Coding Region
Position: hg19 chr1:156,268,561-156,268,980 Size: 420 Coding Exon Count: 1

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	Gene Alleles
RNA-Seq Expression	RNA Structure	Protein Structure	Other Species	GO Annotations	mRNA Descriptions
Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:156,268,415-156,269,098)			mRNA (may differ from genome)		Protein (139 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
Malacards	MGI	PubMed	UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: VHLL_HUMAN DESCRIPTION: RecName: Full=Von Hippel-Lindau-like protein; Short=VHL-like protein; Short=VLP; FUNCTION: Functions as a dominant-negative VHL to serve as a protector of HIFalpha. SUBUNIT: Interacts via the beta domain with the ODD domain of HIF1A This interaction is independent of prolyl hydroxylation of HIF1A. TISSUE SPECIFICITY: Abundantly expressed in the placenta. MISCELLANEOUS: Has little or no E3 ubiquitin ligase activity as it lacks the alpha domain required for nucleating the multiprotein E3 ubiquitin ligase complex.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: VHLL Diseases sorted by gene-association score: pancreatic serous cystadenoma (2), kidney cancer (2)

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 0.23 RPKM in Brain - Cerebellar Hemisphere Total median expression: 0.69 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-30.50	118	-0.258	Picture	PostScript	Text
3' UTR	-38.30	146	-0.262	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR002714 - Tumour_suppress_VHL-disease
IPR024053 - VHL_beta_dom
IPR022772 - VHL_tumour_suppress_b/a_dom

Pfam Domains:
PF01847 - VHL beta domain

SCOP Domains:
49468 - VHL

ModBase Predicted Comparative 3D Structure on Q6RSH7


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding GO:0061630 ubiquitin protein ligase activity Biological Process: GO:0016567 protein ubiquitination Cellular Component: GO:0005634 nucleus GO:0030891 VCB complex

Descriptions from all associated GenBank mRNAs


	AY494836 - Homo sapiens von-Hippel-Lindau-like protein (VLP) mRNA, complete cds. BC130596 - Homo sapiens von Hippel-Lindau tumor suppressor-like, mRNA (cDNA clone MGC:163468 IMAGE:40146627), complete cds. BC130598 - Homo sapiens von Hippel-Lindau tumor suppressor-like, mRNA (cDNA clone MGC:163470 IMAGE:40146629), complete cds. HQ258729 - Synthetic construct Homo sapiens clone IMAGE:100072759 Unknown protein gene, encodes complete protein. KJ896223 - Synthetic construct Homo sapiens clone ccsbBroadEn_05617 VHLL gene, encodes complete protein.

Other Names for This Gene


	Alternate Gene Symbols: A1L4M4, ENST00000339922.1, ENST00000339922.2, ENST00000339922.3, ENST00000339922.4, NM_001004319, Q6RSH7, uc317vmu.1, uc317vmu.2, VHLL_HUMAN, VLP UCSC ID: ENST00000339922.5_6 RefSeq Accession: NM_001004319.3 Protein: Q6RSH7 (aka VHLL_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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