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VHLL_HUMAN
ID   VHLL_HUMAN              Reviewed;         139 AA.
AC   Q6RSH7; A1L4M4;
DT   12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   03-AUG-2022, entry version 122.
DE   RecName: Full=von Hippel-Lindau-like protein;
DE            Short=VHL-like protein;
DE            Short=VLP;
GN   Name=VHLL; Synonyms=VLP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH HIF1A, TISSUE
RP   SPECIFICITY, AND MUTAGENESIS OF 93-ASN--SER-96.
RX   PubMed=14757845;
RA   Qi H., Gervais M.L., Li W., DeCaprio J.A., Challis J.R.G., Ohh M.;
RT   "Molecular cloning and characterization of the von Hippel-Lindau-like
RT   protein.";
RL   Mol. Cancer Res. 2:43-52(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Functions as a dominant-negative VHL to serve as a protector
CC       of HIFalpha. {ECO:0000269|PubMed:14757845}.
CC   -!- SUBUNIT: Interacts via the beta domain with the ODD domain of HIF1A.
CC       This interaction is independent of prolyl hydroxylation of HIF1A.
CC       {ECO:0000269|PubMed:14757845}.
CC   -!- INTERACTION:
CC       Q6RSH7; Q15038: DAZAP2; NbExp=8; IntAct=EBI-10254232, EBI-724310;
CC       Q6RSH7; Q93062: RBPMS; NbExp=3; IntAct=EBI-10254232, EBI-740322;
CC       Q6RSH7; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-10254232, EBI-740343;
CC       Q6RSH7; Q08AM6: VAC14; NbExp=3; IntAct=EBI-10254232, EBI-2107455;
CC       Q6RSH7; O95231: VENTX; NbExp=3; IntAct=EBI-10254232, EBI-10191303;
CC   -!- TISSUE SPECIFICITY: Abundantly expressed in the placenta.
CC       {ECO:0000269|PubMed:14757845}.
CC   -!- MISCELLANEOUS: Has little or no E3 ubiquitin ligase activity as it
CC       lacks the alpha domain required for nucleating the multiprotein E3
CC       ubiquitin ligase complex.
CC   -!- SIMILARITY: Belongs to the VHL family. {ECO:0000305}.
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DR   EMBL; AY494836; AAS48916.1; -; mRNA.
DR   EMBL; BC130596; AAI30597.1; -; mRNA.
DR   EMBL; BC130598; AAI30599.1; -; mRNA.
DR   RefSeq; NP_001004319.1; NM_001004319.2.
DR   AlphaFoldDB; Q6RSH7; -.
DR   SMR; Q6RSH7; -.
DR   BioGRID; 133800; 6.
DR   IntAct; Q6RSH7; 4.
DR   STRING; 9606.ENSP00000464258; -.
DR   iPTMnet; Q6RSH7; -.
DR   PhosphoSitePlus; Q6RSH7; -.
DR   BioMuta; VHLL; -.
DR   DMDM; 74749322; -.
DR   PaxDb; Q6RSH7; -.
DR   PeptideAtlas; Q6RSH7; -.
DR   PRIDE; Q6RSH7; -.
DR   ProteomicsDB; 67325; -.
DR   Antibodypedia; 68434; 56 antibodies from 13 providers.
DR   DNASU; 391104; -.
DR   Ensembl; ENST00000339922.5; ENSP00000464258.2; ENSG00000189030.10.
DR   GeneID; 391104; -.
DR   KEGG; hsa:391104; -.
DR   MANE-Select; ENST00000339922.5; ENSP00000464258.2; NM_001004319.3; NP_001004319.1.
DR   UCSC; uc001fok.4; human.
DR   CTD; 391104; -.
DR   DisGeNET; 391104; -.
DR   GeneCards; VHLL; -.
DR   HGNC; HGNC:30666; VHLL.
DR   HPA; ENSG00000189030; Tissue enhanced (brain).
DR   MIM; 619650; gene.
DR   neXtProt; NX_Q6RSH7; -.
DR   PharmGKB; PA134987272; -.
DR   VEuPathDB; HostDB:ENSG00000189030; -.
DR   eggNOG; KOG4710; Eukaryota.
DR   GeneTree; ENSGT00390000014353; -.
DR   HOGENOM; CLU_1844478_0_0_1; -.
DR   InParanoid; Q6RSH7; -.
DR   OMA; AGPEEYC; -.
DR   OrthoDB; 1509532at2759; -.
DR   PhylomeDB; Q6RSH7; -.
DR   TreeFam; TF318985; -.
DR   PathwayCommons; Q6RSH7; -.
DR   SignaLink; Q6RSH7; -.
DR   BioGRID-ORCS; 391104; 5 hits in 246 CRISPR screens.
DR   GenomeRNAi; 391104; -.
DR   Pharos; Q6RSH7; Tdark.
DR   PRO; PR:Q6RSH7; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q6RSH7; protein.
DR   Bgee; ENSG00000189030; Expressed in hindlimb stylopod muscle and 33 other tissues.
DR   CDD; cd05468; pVHL; 1.
DR   Gene3D; 2.60.40.780; -; 1.
DR   InterPro; IPR002714; VHL.
DR   InterPro; IPR024053; VHL_beta_dom.
DR   InterPro; IPR037140; VHL_beta_dom_sf.
DR   InterPro; IPR036208; VHL_sf.
DR   InterPro; IPR022772; VHL_tumour_suppress_b/a_dom.
DR   PANTHER; PTHR15160:SF10; PTHR15160:SF10; 1.
DR   Pfam; PF01847; VHL; 1.
DR   SUPFAM; SSF49468; SSF49468; 1.
PE   1: Evidence at protein level;
KW   Reference proteome.
FT   CHAIN           1..139
FT                   /note="von Hippel-Lindau-like protein"
FT                   /id="PRO_0000265087"
FT   REGION          1..22
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          54..135
FT                   /note="Beta-domain"
FT   MUTAGEN         93..96
FT                   /note="NFRS->SYRG: Preferentially binds to a hydroxylated
FT                   ODD peptide."
FT                   /evidence="ECO:0000269|PubMed:14757845"
SQ   SEQUENCE   139 AA;  15781 MW;  80246038C7F94311 CRC64;
     MPWRAGNGVG LEAQAGTQEA GPEEYCQEEL GAEEEMAARA AWPVLRSVNS RELSRIIICN
     HSPRIVLPVW LNYYGKLLPY LTLLPGRDFR IHNFRSHPWL FRDARTHDKL LVNQTELFVP
     SSNVNGQPVF ANITLQCIP
 
 
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