Q6RSH7 (VHLL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Von Hippel-Lindau-like protein
Short name=VHL-like protein
Short name=VLP

Gene names

Name:	VHLL
Synonyms:	VLP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	139 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Functions as a dominant-negative VHL to serve as a protector of HIFalpha. Ref.1
Subunit structure	Interacts via the beta domain with the ODD domain of HIF1A This interaction is independent of prolyl hydroxylation of HIF1A. Ref.1
Tissue specificity	Abundantly expressed in the placenta. Ref.1
Miscellaneous	Has little or no E3 ubiquitin ligase activity as it lacks the alpha domain required for nucleating the multiprotein E3 ubiquitin ligase complex.

Ontologies

Keywords
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein ubiquitination Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 139	139	Von Hippel-Lindau-like protein		PRO_0000265087
Regions
	Region	54 – 135	82	Beta-domain
Experimental info
	Mutagenesis	93 – 96	4	NFRS → SYRG: Preferentially binds to a hydroxylated ODD peptide. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q6RSH7 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 80246038C7F94311	FASTA	139	15,781
	10 20 30 40 50 60 MPWRAGNGVG LEAQAGTQEA GPEEYCQEEL GAEEEMAARA AWPVLRSVNS RELSRIIICN 70 80 90 100 110 120 HSPRIVLPVW LNYYGKLLPY LTLLPGRDFR IHNFRSHPWL FRDARTHDKL LVNQTELFVP 130 SSNVNGQPVF ANITLQCIP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of the von Hippel-Lindau-like protein." Qi H., Gervais M.L., Li W., DeCaprio J.A., Challis J.R.G., Ohh M. Mol. Cancer Res. 2:43-52(2004) [PubMed: 14757845] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH HIF1A, TISSUE SPECIFICITY, MUTAGENESIS OF 93-ASN--SER-96.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY494836 mRNA. Translation: AAS48916.1. BC130596 mRNA. Translation: AAI30597.1. BC130598 mRNA. Translation: AAI30599.1.
IPI	IPI00455461.
RefSeq	NP_001004319.1. NM_001004319.2.
UniGene	Hs.532378.
3D structure databases
HSSP	HSSP built from PDB template 1LM8 based on UniProtKB P40337.
ProteinModelPortal	Q6RSH7.
SMR	Q6RSH7. Positions 43-135.
ModBase	Search...
Polymorphism databases
DMDM	74749322.
Proteomic databases
PRIDE	Q6RSH7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	391104.
KEGG	hsa:391104.
UCSC	uc001fok.1. human.
Organism-specific databases
CTD	391104.
GeneCards	GC01M156268.
H-InvDB	HIX0200067.
HGNC	HGNC:30666. VHLL.
neXtProt	NX_Q6RSH7.
PharmGKB	PA134987272.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20495.
InParanoid	Q6RSH7.
Gene expression databases
CleanEx	HS_VHLL.
Genevestigator	Q6RSH7.
Family and domain databases
InterPro	IPR002714. Tumour_suppress_VHL-disease. IPR024053. VHL_beta_dom. IPR022772. VHL_tumour_suppress_b/a_dom. [Graphical view]
Gene3D	G3DSA:2.60.40.780. G3DSA:2.60.40.780. 1 hit.
PANTHER	PTHR15160. VHL. 1 hit.
Pfam	PF01847. VHL. 1 hit. [Graphical view]
SUPFAM	SSF49468. SSF49468. 1 hit.
ProtoNet	Search...
Other
NextBio	104325.

Entry information

Entry name

VHLL_HUMAN

Accession

Primary (citable) accession number: Q6RSH7
Secondary accession number(s): A1L4M4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 12, 2006
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.