Jos ei tapahdu proliinin hydroksylaatiota ja HIF täten stabiloituu hypoksiassa, lisääntyy Glut-1, VEGF ja PDGFbeta, kertoi Lancet.
VHL
?
Procyclic acidic repetitive protein (PARP)
This
family consists of several Trypanosoma brucei procyclic acidic
repetitive protein (PARP) like sequences. The procyclic acidic
repetitive protein (parp) genes of Trypanosoma brucei encode a small
family of abundant surface proteins whose expression is restricted to
the procyclic form of the parasite. They are found at two unlinked loci,
parpA and parpB; transcription of both loci is developmentally
regulated.- Preferred Names
- von Hippel-Lindau disease tumor suppressor
- Names
- elongin binding protein
- protein G7
- von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
von Hippel-Lindau disease tumor suppressor isoform 1 [Homo sapiens]
NCBI Reference Sequence: NP_000542.1
LOCUS NP_000542 213 aa linear PRI 03-AUG-2019
DEFINITION von Hippel-Lindau disease tumor suppressor isoform 1 [Homo
sapiens].
ACCESSION NP_000542
VERSION NP_000542.1
DBSOURCE REFSEQ: accession NM_000551.3
KEYWORDS RefSeq; RefSeq Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 213)
AUTHORS Liu J, Wang Y, Wang S, Si H and Duan W.
TITLE [Mutation analysis for a family affected with von Hippel-Lindau
syndrome]
JOURNAL Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (6), 860-863 (2018)
PUBMED 30512164
REMARK GeneRIF: A novel mutation was found in exon 2 of the VHL gene; the
alpha-structure of pVHL is completely absent. The novel
c.426delT(p.V142fs) mutation probably underlies von Hippel-Lindau
syndrome in this pedigree.
REFERENCE 2 (residues 1 to 213)
AUTHORS Trotta AM, Santagata S, Zanotta S, D'Alterio C, Napolitano M, Rea
G, Camerlingo R, Esposito F, Lamantia E, Anniciello A, Botti G,
Longo N, Botti G, Pignata S, Perdona S and Scala S.
TITLE Mutated Von Hippel-Lindau-renal cell carcinoma (RCC) promotes
patients specific natural killer (NK) cytotoxicity
JOURNAL J. Exp. Clin. Cancer Res. 37 (1), 297 (2018)
PUBMED 30514329
REMARK GeneRIF: VHL tumoral mutations improve NKs effectiveness in RCC
patients and need to be considered in the evaluation of immune
response.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 213)
AUTHORS Wu X, Chen L, Zhang Y, Xie H, Xue M, Wang Y and Huang H.
TITLE A novel mutation in the VHL gene in a Chinese family with von
Hippel-Lindau disease
JOURNAL BMC Med. Genet. 19 (1), 204 (2018)
PUBMED 30477447
REMARK GeneRIF: A novel W117R was detected in the VHL gene that caused
retinal hemangioblastomas in affected members of a Chinese family.
Publication Status: Online-Only
REFERENCE 4 (residues 1 to 213)
AUTHORS Liao L, Liu ZZ, Langbein L, Cai W, Cho EA, Na J, Niu X, Jiang W,
Zhong Z, Cai WL, Jagannathan G, Dulaimi E, Testa JR, Uzzo RG, Wang
Y, Stark GR, Sun J, Peiper S, Xu Y, Yan Q and Yang H.
TITLE Multiple tumor suppressors regulate a HIF-dependent negative
feedback loop via ISGF3 in human clear cell renal cancer
JOURNAL Elife 7, e37925 (2018)
PUBMED 30355451
REMARK GeneRIF: Thus after VHL inactivation, HIF induces ISGF3, which is
reversed by the loss of secondary tumor suppressors, suggesting
that this is a key negative feedback loop in clear cell renal cell
carcinoma.
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 213)
AUTHORS Neumann HP, Eng C, Mulligan LM, Glavac D, Zauner I, Ponder BA,
Crossey PA, Maher ER and Brauch H.
TITLE Consequences of direct genetic testing for germline mutations in
the clinical management of families with multiple endocrine
neoplasia, type II
JOURNAL JAMA 274 (14), 1149-1151 (1995)
PUBMED 7563486
REFERENCE 6 (residues 1 to 213)
AUTHORS Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
TITLE Initial assessment of human gene diversity and expression patterns
based upon 83 million nucleotides of cDNA sequence
JOURNAL Nature 377 (6547 Suppl), 3-174 (1995)
PUBMED 7566098
REFERENCE 7 (residues 1 to 213)
AUTHORS Duan DR, Humphrey JS, Chen DY, Weng Y, Sukegawa J, Lee S, Gnarra
JR, Linehan WM and Klausner RD.
TITLE Characterization of the VHL tumor suppressor gene product:
localization, complex formation, and the effect of natural
inactivating mutations
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (14), 6459-6463 (1995)
PUBMED 7604013
REFERENCE 8 (residues 1 to 213)
AUTHORS Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T,
Kuzmin I, Modi W, Geil L et al.
TITLE Identification of the von Hippel-Lindau disease tumor suppressor
gene
JOURNAL Science 260 (5112), 1317-1320 (1993)
PUBMED 8493574
REFERENCE 9 (residues 1 to 213)
AUTHORS van Leeuwaarde,R.S., Ahmad,S., Links,T.P. and Giles,R.H.
TITLE Von Hippel-Lindau Syndrome
JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
K and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 20301636
REFERENCE 10 (residues 1 to 213)
AUTHORS Neumann HP and Wiestler OD.
TITLE Clustering of features of von Hippel-Lindau syndrome: evidence for
a complex genetic locus
JOURNAL Lancet 337 (8749), 1052-1054 (1991)
PUBMED 1673491
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC034193.5, L15409.1,
AK315799.1, BC058831.1 and D58014.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: Von Hippel-Lindau syndrome (VHL) is a dominantly inherited
familial cancer syndrome predisposing to a variety of malignant and
benign tumors. A germline mutation of this gene is the basis of
familial inheritance of VHL syndrome. The protein encoded by this
gene is a component of the protein complex that includes elongin B,
elongin C, and cullin-2, and possesses ubiquitin ligase E3
activity. This protein is involved in the ubiquitination and
degradation of hypoxia-inducible-factor (HIF), which is a
transcription factor that plays a central role in the regulation of
gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is
also reported to be a target of this protein. Alternatively spliced
transcript variants encoding distinct isoforms have been observed.
[provided by RefSeq, Jul 2008].
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..213
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p25.3"
Protein 1..213
/product="von Hippel-Lindau disease tumor suppressor
isoform 1"
/note="elongin binding protein; von Hippel-Lindau disease
tumor suppressor; protein G7; von Hippel-Lindau tumor
suppressor, E3 ubiquitin protein ligase"
/calculated_mol_wt=24022
Region <7 ..86="" region_name="<b">"Trypan_PARP"
/note="Procyclic acidic repetitive protein (PARP);
cl25865"
/db_xref="CDD:330686"
Region 14..53
/region_name="8 X 5 AA tandem repeats of
G-[PAVG]-E-E-[DAYSLE]"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P40337.2)"
Region 54
/region_name="alternative start codon"
Region 64..203
/region_name="pVHL"
/note="von Hippel-Landau (pVHL) tumor suppressor protein;
cd05468"
/db_xref="CDD:176472"
Site order(67,69,75,77..79,88,91,98..99,105..112,115,117)
/site_type="other"
/note="pVHL-HIF-1alpha interaction [polypeptide binding]"
/db_xref="CDD:176472"
Site order(79,153,159,161..163,165..166,174,177..178,184)
/site_type="other"
/note="pVHL-ElonginB-ElonginC (VBC) interface [polypeptide
binding]"
/db_xref="CDD:176472"
Region 100..155
/region_name="Involved in binding to CCT complex"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P40337.2)"
Region 157..166
/region_name="Interaction with Elongin BC complex"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P40337.2)"
CDS 1..213
/gene="VHL"
/gene_synonym="HRCA1; pVHL; RCA1; VHL1"
/coded_by="NM_000551.3:214..855"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS2597.1"
/db_xref="GeneID:7428"
/db_xref="HGNC:HGNC:12687"
/db_xref="MIM:608537"
ORIGIN
1 mprraenwde aevgaeeagv eeygpeedgg eesgaeesgp eesgpeelga eeemeagrpr
61 pvlrsvnsre psqvifcnrs prvvlpvwln fdgepqpypt lppgtgrrih syrghlwlfr
121 dagthdgllv nqtelfvpsl nvdgqpifan itlpvytlke rclqvvrslv kpenyrrldi
181 vrslyedled hpnvqkdler ltqeriahqr mgd
//
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