Property Summary

NCBI Gene PubMed Count 35
PubMed Score 133.33
PubTator Score 92.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.200 6.7e-04
adult high grade glioma -1.100 6.3e-04

Protein-protein Interaction (4)

Gene RIF (14)

PMID Text
25704885 Data identified important roles of NIBP in promoting tumorigenesis via NFkappaBeta signaling.
24040793 Identification and construction of a 3D protein model of trafficking protein particle complex 9 (TRAPPC9), a potetnially interesting molecular target for the development of drug therapy against non syndromic mental retardation
22989526 A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
22549410 By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia
22279557 Data suggest that TRAPPC9 serves to uncouple p150(Glued) from the COPII coat, and to relay the vesicle-dynactin interaction at the target membrane.
21858081 Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8.
20966969 Studies indicate that a truncation of TRAPPC9 leads to mental retardation.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
20004765 TRAPPC9, encodes the NIK- and IKK-beta-binding protein, has a role in nonsyndromic autosomal-recessive mental retardation
20004763 TRAPPC9 has a role in brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex
19851296 Observational study of gene-disease association. (HuGE Navigator)
19724895 Observational study of gene-disease association. (HuGE Navigator)
15951441 NIBP is a NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation

AA Sequence

MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGD      1 - 70
FQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYED     71 - 140
CQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVG    141 - 210
DLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEA    211 - 280
ANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIK    281 - 350
AVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSI    351 - 420
AEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQT    421 - 490
MLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSL    491 - 560
LGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCEVQLMVYNPMPFELRVENMGLLTSGVEFESL    561 - 630
PAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQIS    631 - 700
TSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWK    701 - 770
LEETLAQFPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPP    771 - 840
ESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATSTRQCHLLLDV    841 - 910
FNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARGLEIHS    911 - 980
KLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQVGDPVRLEVRLTNR    981 - 1050
SPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHIRF   1051 - 1120
HEDSTSKELPPSWFCLPSVHVCALEAQA                                             1121 - 1148
//

Text Mined References (43)

PMID Year Title
26596835 2016 NIK- and IKK?-binding protein promotes colon cancer metastasis by activating the classical NF-?B pathway and MMPs.
25704885 2015 Elevated NIBP/TRAPPC9 mediates tumorigenesis of cancer cells through NF?B signaling.
25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.
25018876 2014 Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8.
24980697 2014 Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
24776741 2014 De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
24667089 2014 The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.
24040793 2014 Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
23474757 2014 Identification of novel determinants of resistance to lapatinib in ERBB2-amplified cancers.
23412934 2013 A genome-wide association study of brain lesion distribution in multiple sclerosis.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23077036 2012 Genome-wide linkage analysis of human auditory cortical activation suggests distinct loci on chromosomes 2, 3, and 8.
22989526 2012 A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
22952603 2012 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
22912676 2012 Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios.
22549410 2013 TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
22279557 2012 TRAPPC9 mediates the interaction between p150 and COPII vesicles at the target membrane.
21858081 2011 The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
21704414 2011 DNA methylation changes in cells regrowing after fractioned ionizing radiation.
21629298 2011 Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
21525244 2011 C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.
21513506 2011 A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
20966969 2010 TRAPP complexes in membrane traffic: convergence through a common Rab.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20018008 2009 Genome-wide discovery of maternal effect variants.
20004765 2009 Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
20004764 2009 Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.
20004763 2009 A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19724895 2009 Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15951441 2005 NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12676587 2003 Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11572484 2001 Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.