Property Summary

NCBI Gene PubMed Count 24
PubMed Score 17.64
PubTator Score 15.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -3.117 2.7e-07
medulloblastoma, large-cell -1.100 6.4e-05
pancreatic ductal adenocarcinoma liver m... -1.019 1.9e-02
adult high grade glioma -1.400 6.8e-05
ovarian cancer 1.100 8.0e-04

 GWAS Trait (1)

Gene RIF (10)

PMID Text
26126547 Suggest that RNF213 R4810K carriers have lower angiogenic capacities, indicating that they might be more susceptible to insults of cerebral hypoxia.
25860612 Study identified KPC1 as the Ub ligase (E3) that binds to the ankyrin repeats domain of p105, ubiquitinates it, and mediates its processing both under basal conditions and following signaling. Overexpression of KPC1 inhibits tumor growth likely mediated via excessive generation of p50.
23668904 up-regulation of RNF123 was restricted to the cingulate cortex of patients with psychotic manifestations of the depression, supporting the role of the ubiquitin system in psychosis.
23077635 Our data support a role for RNF123 ubiquitin ligase in the degradation of HP1alpha and HP1beta upon lamin A/C knock-down
22688066 The number of patients with moyamoya disease, which is estimated at approximately one per 300 carriers of RNF123 polymorphism p.R4810K, is considered to be 53,800 in East Asian populations.
21982424 This study deministrated that genome-wide significant quantitative trait locus was localized on chromsome 4p15 exhibiting pleiotropic effects on both the endophenotype (lymphocyte-derived expression levels of the RNF123 gene) and disease risk.
21355095 Dendritic cell apoptosis was at least regulated by miR-221 and miR-155 through targeting the 3'-UTRs of p27kip1 and Kip1 ubiquitination-promoting complex 1 (KPC1), respectively.
20307617 Observational study of gene-disease association. (HuGE Navigator)
15746103 Free p27 is recognized by the amino-terminal region of KPC1, which also associates with KPC2, and p27 is then polyubiquitylated by the carboxy-terminal RING-finger domain of KPC1.
15531880 KPC thus probably controls degradation of p27(Kip1) in G1 phase after export of the latter from the nucleus

AA Sequence

MASKGAGMSFSRKSYRLTSDAEKSRVTGIVQEKLLNDYLNRIFSSSEHAPPAATSRKPLNFQNLPEHLDQ      1 - 70
LLQVDNEEEESQGQVEGRLGPSTVVLDHTGGFEGLLLVDDDLLGVIGHSNFGTIRSTTCVYKGKWLYEVL     71 - 140
ISSQGLMQIGWCTISCRFNQEEGVGDTHNSYAYDGNRVRKWNVTTTNYGKAWAAGDIVSCLIDLDDGTLS    141 - 210
FCLNGVSLGTAFENLSRGLGMAYFPAISLSFKESVAFNFGSRPLRYPVAGYRPLQDPPSADLVRAQRLLG    211 - 280
CFRAVLSVELDPVEGRLLDKESSKWRLRGQPTVLLTLAHIFHHFAPLLRKVYLVEAVLMSFLLGIVEKGT    281 - 350
PTQAQSVVHQVLDLLWLFMEDYEVQDCLKQLMMSLLRLYRFSPIVPDLGLQIHYLRLTIAILRHEKSRKF    351 - 420
LLSNVLFDVLRSVVFFYIKSPLRVEEAGLQELIPTTWWPHCSSREGKESTEMKEETAEERLRRRAYERGC    421 - 490
QRLRKRIEVVEELQVQILKLLLDNKDDNGGEASRYIFLTKFRKFLQENASGRGNMPMLCPPEYMVCFLHR    491 - 560
LISALRYYWDEYKASNPHASFSEEAYIPPQVFYNGKVDYFDLQRLGGLLSHLRKTLKDDLASKANIVIDP    561 - 630
LELQSTAMDDLDEDEEPAPAMAQRPMQALAVGGPLPLPRPGWLSSPTLGRANRFLSTAAVSLMTPRRPLS    631 - 700
TSEKVKVRTLSVEQRTREDIEGSHWNEGLLLGRPPEEPEQPLTENSLLEVLDGAVMMYNLSVHQQLGKMV    701 - 770
GVSDDVNEYAMALRDTEDKLRRCPKRRKDILAELTKSQKVFSEKLDHLSRRLAWVHATVYSQEKMLDIYW    771 - 840
LLRVCLRTIEHGDRTGSLFAFMPEFYLSVAINSYSALKNYFGPVHSMEELPGYEETLTRLAAILAKHFAD    841 - 910
ARIVGTDIRDSLMQALASYVCYPHSLRAVERIPEEQRIAMVRNLLAPYEQRPWAQTNWILVRLWRGCGFG    911 - 980
YRYTRLPHLLKTKLEDANLPSLQKPCPSTLLQQHMADLLQQGPDVAPSFLNSVLNQLNWAFSEFIGMIQE    981 - 1050
IQQAAERLERNFVDSRQLKVCATCFDLSVSLLRVLEMTITLVPEIFLDWTRPTSEMLLRRLAQLLNQVLN   1051 - 1120
RVTAERNLFDRVVTLRLPGLESVDHYPILVAVTGILVQLLVRGPASEREQATSVLLADPCFQLRSICYLL   1121 - 1190
GQPEPPAPGTALPAPDRKRFSLQSYADYISADELAQVEQMLAHLTSASAQAAAASLPTSEEDLCPICYAH   1191 - 1260
PISAVFQPCGHKSCKACINQHLMNNKDCFFCKTTIVSVEDWEKGANTSTTSSAA                   1261 - 1314
//

Text Mined References (27)

PMID Year Title
26126547 2015 Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
25860612 2015 KPC1-mediated ubiquitination and proteasomal processing of NF-?B1 p105 to p50 restricts tumor growth.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
23668904 2013 Correlative gene expression pattern linking RNF123 to cellular stress-senescence genes in patients with depressive disorder: implication of DRD1 in the cerebral cortex.
23077635 2012 Ubiquitin ligase RNF123 mediates degradation of heterochromatin protein 1? and ? in lamin A/C knock-down cells.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22688066 2012 Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.
21982424 2012 High dimensional endophenotype ranking in the search for major depression risk genes.
21355095 2011 miR-221 and miR-155 regulate human dendritic cell development, apoptosis, and IL-12 production through targeting of p27kip1, KPC1, and SOCS-1.
21269460 2011 Initial characterization of the human central proteome.
20307617 2010 Association analysis of 3p21 with Crohn's disease in a New Zealand population.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16227581 2005 Role of the UBL-UBA protein KPC2 in degradation of p27 at G1 phase of the cell cycle.
15746103 2005 Molecular dissection of the interaction between p27 and Kip1 ubiquitylation-promoting complex, the ubiquitin ligase that regulates proteolysis of p27 in G1 phase.
15531880 2004 Cytoplasmic ubiquitin ligase KPC regulates proteolysis of p27(Kip1) at G1 phase.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.