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Showing TRAPPC9 — NIBP is a alias.

TRAPPC9

Trafficking protein particle complex subunit 9 · UniProt Q96Q05

Length
1148 aa
Mass
128.5 kDa
Annotated
2026-06-10
49 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TRAPPC9 (NIBP) is a multifunctional protein that bridges intracellular membrane trafficking with NF-κB signaling and is essential for nervous system development (PMID:15951441, PMID:33208359). As a subunit of the mammalian TRAPPII complex, it is incorporated through TRAPPC2, which acts as an adaptor linking TRAPPC9 to TRAPPC10; disease-associated mutations in either TRAPPC2 or TRAPPC9 abolish this assembly (PMID:21858081). The conserved trafficking role of TRAPPC9 traces to its yeast ortholog Trs120p, which mediates COPI-dependent vesicle traffic from the early endosome to the late Golgi (PMID:16314430). In mammals TRAPPC9 functions as a guanine-nucleotide exchange factor activating Rab11 to drive endocytic receptor recycling in neurons and Rab18 to govern lipid droplet homeostasis, controlling lipid body recruitment and lipid droplet coating (PMID:33208359, PMID:38412149, PMID:38331351); it also binds the dynactin subunit p150Glued through the same domain p150 uses to engage the COPII components Sec23/Sec24, competitively uncoupling vesicles from the coat to relay microtubule-based transport (PMID:22279557). In parallel, TRAPPC9 binds NIK and phosphorylated IKKβ to potentiate TNFα-induced canonical NF-κB activation, promoting phosphorylation of IKK, IκBα and p65 and influencing neuronal differentiation and tumor cell survival (PMID:15951441, PMID:25704885, PMID:28125661). Loss of TRAPPC9 destabilizes the TRAPPII complex at neurite and growth-cone cytoskeleton, impairing dendritic and axonal elongation and branching, depleting Sox2-positive neural stem/progenitor cells, and disrupting striatal dopamine synapse formation (PMID:37416774, PMID:38331351, PMID:38889014). These deficits underlie a dose-sensitive, imprinting-linked neurodevelopmental disorder with microcephaly and obesity (PMID:32877400), and biallelic TRAPPC9 variants additionally manifest as a congenital disorder of glycosylation (PMID:35042660).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2005 High

    Established that TRAPPC9 is a signaling scaffold by showing it physically links NIK and IKKβ to potentiate NF-κB activation, defining a function distinct from generic trafficking.

    Evidence Yeast two-hybrid, reciprocal co-IP, and NF-κB reporter/phosphorylation assays in PC12 cells

    PMID:15951441

    Open questions at the time
    • Whether NF-κB scaffolding is independent of the TRAPPII trafficking role was not resolved
    • Direct kinase activation mechanism not defined
  2. 2005 High

    Defined the conserved trafficking function via the yeast ortholog Trs120p, placing TRAPPC9 at a COPI-dependent endosome-to-late-Golgi step.

    Evidence Temperature-sensitive yeast mutants, fluorescence/electron microscopy, colocalization with Sec7p and COPI

    PMID:16314430

    Open questions at the time
    • Yeast trafficking step not directly demonstrated for mammalian TRAPPC9
    • GEF substrate in yeast not identified here
  3. 2011 Medium

    Resolved how TRAPPC9 assembles into the mammalian TRAPPII complex, showing TRAPPC2 is the adaptor that bridges TRAPPC9 to TRAPPC10 and that disease mutations disrupt this.

    Evidence Co-IP in mammalian cells with wild-type and disease-mutant constructs

    PMID:21858081

    Open questions at the time
    • Single lab; stoichiometry and structure of the assembled complex not determined
    • Functional consequence of assembly on GEF activity untested
  4. 2012 Medium

    Connected TRAPPC9 to microtubule-based vesicle transport by showing it competes with COPII for p150Glued binding, providing a handoff mechanism from coat to dynactin.

    Evidence Co-IP, in vitro binding competition, MTOC localization competition assays

    PMID:22279557

    Open questions at the time
    • In vivo relevance to physiological transport not established
    • Single lab
  5. 2013 Medium

    Showed the NF-κB/differentiation function operates in a defined neuronal population, mapping TRAPPC9 to cholinergic and nitrergic enteric neurons.

    Evidence shRNA/overexpression in enteric neuronal line with NF-κB reporter; multi-label immunofluorescence in whole-mount intestine

    PMID:24011459

    Open questions at the time
    • Causal link between enteric NF-κB role and organismal phenotype not tested
  6. 2015 Medium

    Confirmed phosphorylation-dependent, endogenous binding of TRAPPC9 to active IKK2 and extended the NF-κB role to tumor growth and survival.

    Evidence Endogenous co-IP, shRNA knockdown, NF-κB reporter, xenograft tumor models

    PMID:25704885

    Open questions at the time
    • Direct enzymatic mechanism on IKK2 not defined
    • Single lab
  7. 2017 Medium

    Broadened the signaling output by showing TRAPPC9 also modulates TNFα-induced MAPK (ERK/JNK) phosphorylation alongside canonical NF-κB.

    Evidence shRNA knockdown in HCT116 cells, pathway western blotting after TNFα, orthotopic xenograft

    PMID:28125661

    Open questions at the time
    • Mechanism connecting TRAPPC9 to MAPK branch unknown
    • Single lab
  8. 2020 High

    Established the in vivo GEF function and disease mechanism: TRAPPC9 loss impairs Rab11 activation and endocytic recycling, producing brain growth and cognitive deficits reversible by dopamine receptor manipulation.

    Evidence Trappc9 KO mice, Rab11-GTP pull-down, neuronal recycling assay, pharmacological rescue

    PMID:33208359

    Open questions at the time
    • Direct GEF catalysis on Rab11 not reconstituted biochemically
    • How recycling defect leads to dopamine receptor imbalance unresolved
  9. 2020 High

    Defined the genetics of disease severity, showing maternal-biased imprinted expression creates a dose-threshold whereby maternal allele loss recapitulates the knockout phenotype.

    Evidence Allele-specific expression, reciprocal heterozygous and KO mice, MRI, behavior, human case

    PMID:32877400

    Open questions at the time
    • Imprinting control region/regulatory mechanism not mapped
    • Conservation of imprinting in humans not fully established
  10. 2019 Medium

    Identified a cytoskeletal partner, showing TRAPPC9 binds L-plastin and organizes actin and podosome formation in osteoclasts.

    Evidence Co-IP/mass spectrometry, reciprocal co-IP, immunofluorescence, overexpression in osteoclasts

    PMID:31453638

    Open questions at the time
    • Relationship of L-plastin binding to TRAPPII GEF function unknown
    • Single lab, overexpression-based
  11. 2022 Medium

    Linked TRAPPC9 deficiency to a congenital disorder of glycosylation, expanding its phenotypic spectrum to a metabolic defect.

    Evidence Patient N-glycosylation analysis, tracer metabolomics, wild-type complementation, immunofluorescence in fibroblasts

    PMID:35042660

    Open questions at the time
    • Mechanistic route from trafficking defect to glycosylation abnormality not defined
  12. 2022 Medium

    Connected TRAPPC9 to stem cell maintenance and lipid/adipogenic homeostasis, showing KO causes premature senescence, lipid droplet accumulation, altered Rab expression and autophagy, and neural stem cell depletion.

    Evidence Trappc9 KO ASC differentiation, western blotting of Rab and autophagy markers, neural stem cell immunofluorescence

    PMID:35563289

    Open questions at the time
    • Causal ordering of senescence, Rab upregulation and autophagy not resolved
    • Single lab
  13. 2024 Medium

    Defined the Rab18-dependent lipid droplet role in neurons, showing TRAPPC9 loss enlarges LDs, reduces Perilipin-2 coating, and depletes hippocampal neural stem cells.

    Evidence Trappc9 KO mice, MRI, lipid droplet staining in primary hippocampal neurons, Sox2/Perilipin-2 immunofluorescence

    PMID:38331351

    Open questions at the time
    • Direct GEF activity toward Rab18 not biochemically reconstituted here
    • Link between LD defect and stem cell loss correlative
  14. 2024 Medium

    Refined the neurodevelopmental and metabolic phenotype, showing TRAPPC9 is required for dopamine synapse/release structure formation and that dopamine receptor pharmacology relieves obesity and NAFLD.

    Evidence Trappc9 KO mice, RNA-seq of DRD2 neurons, synaptosome proteomics, histology, pharmacological rescue

    PMID:38889014

    Open questions at the time
    • Molecular link between trafficking defect and reduced release structures unclear
    • Single lab
  15. 2024 Medium

    Demonstrated functional exploitation of the TRAPPC9-Rab18 axis by a pathogen, with Leishmania upregulating TRAPPC9/Rab18 via miR-1914-3p suppression to recruit host lipid bodies.

    Evidence miRNA over/inhibition, Dicer knockdown, reporter assays, lipid body imaging and fatty acid transfer in macrophages

    PMID:38412149

    Open questions at the time
    • Direct GEF assay on Rab18 not performed in this context
    • Generalizability beyond Leishmania infection unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How TRAPPC9's distinct activities — NF-κB scaffolding, Rab GEF function, and cytoskeletal/dynactin coupling — are mechanistically coordinated within or independent of the TRAPPII complex remains unresolved.
  • No reconstituted biochemistry confirming TRAPPC9 catalyzes Rab11/Rab18 nucleotide exchange
  • No structure of the mammalian TRAPPII complex containing TRAPPC9
  • Whether NF-κB and trafficking functions use the same molecular surface unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 3
Localization
GO:0005768 endosome 2 GO:0005856 cytoskeleton 2 GO:0005794 Golgi apparatus 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 3 R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-1643685 Disease 2
Partners
DCTN1IKBKBLCP1NIKRAB11RAB18TRAPPC10TRAPPC2
Complex memberships
TRAPPII complex

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2005 NIBP/TRAPPC9 physically interacts with NIK and IKKβ (but not IKKα or IKKγ) via yeast two-hybrid and co-immunoprecipitation. Overexpression potentiates TNFα-induced NF-κB activation through increased phosphorylation of the IKK complex, IκBα, and p65; siRNA knockdown reduces TNFα-induced NF-κB activation, prevents NGF-induced neuronal differentiation, and decreases Bcl-xL expression in PC12 cells. Yeast two-hybrid screen, co-immunoprecipitation, overexpression/siRNA knockdown with NF-κB luciferase reporter, immunohistochemistry The Journal of biological chemistry High 15951441
2005 Yeast Trs120p (ortholog of TRAPPC9) is required for vesicle traffic from the early endosome to the late Golgi; trs120 mutants accumulate aberrant Berkeley body-like membrane structures and disrupt recycling of proteins through the early endosome. Trs120p colocalizes with the late Golgi marker Sec7p, and trs120 mutants display mislocalization of COPI subunits, implicating Trs120p in a COPI-dependent trafficking step on the early endosomal pathway. Yeast genetics (temperature-sensitive mutants), fluorescence microscopy, electron microscopy, colocalization with Sec7p and COPI subunits The Journal of cell biology High 16314430
2011 In mammalian cells, TRAPPC2 acts as an adaptor for TRAPPC9 in TRAPPII complex formation: TRAPPC2 binds TRAPPC9, which in turn binds TRAPPC10. A disease-causing TRAPPC2 mutation (D47Y) abolishes interaction with TRAPPC9, and deletional mutants of TRAPPC9 all fail to interact with TRAPPC2 and TRAPPC10. TRAPPC2 also binds TRAPPC8 (putative TRAPPIII-specific subunit), but endogenous TRAPPC9-positive TRAPPII does not contain TRAPPC8, indicating TRAPPC2 binds either TRAPPC9 or TRAPPC8 in the respective mammalian TRAPP complexes. Co-immunoprecipitation in mammalian cells with wild-type and disease-associated mutant constructs PloS one Medium 21858081
2012 TRAPPC9 directly binds p150Glued (dynactin subunit) via p150's carboxyl-terminal domain — the same domain that binds COPII coat components Sec23/Sec24. TRAPPC9 inhibits the interaction between p150Glued and Sec23/Sec24 both in vitro and in vivo, suggesting TRAPPC9 uncouples p150Glued from the COPII coat at the target membrane (ERGIC) to relay vesicle-dynactin interaction, allowing nascent ERGIC to continue microtubule-based movement. Co-immunoprecipitation, in vitro binding competition assay, overexpression-based competition for microtubule organizing center localization PloS one Medium 22279557
2015 Endogenous NIBP/TRAPPC9 binds specifically to phosphorylated IKK2 in a TNFα-dependent manner. NIBP knockdown transiently attenuates TNFα-stimulated phosphorylation of IKK2/p65 and degradation of IκBα, while NIBP overexpression enhances TNFα-induced NF-κB activation and inhibits apoptosis. NIBP knockdown inhibits growth, invasion, colony formation, and xenograft tumorigenesis of breast and colon cancer cells in an NF-κB-dependent manner. Co-immunoprecipitation of endogenous proteins, lentiviral shRNA knockdown, NF-κB luciferase reporter, xenograft mouse model Oncotarget Medium 25704885
2013 In mouse enteric neuronal cells, NIBP/TRAPPC9 shRNA knockdown inhibits TNFα-induced NF-κB activation and neuronal differentiation, while NIBP overexpression promotes both. NIBP-like immunoreactivity colocalizes with cholinergic (~98%) and nitrergic (~87%) neuronal markers in the myenteric plexus but not with glial, smooth muscle, or interstitial cells of Cajal markers. Lentiviral shRNA/overexpression in enteric neuronal cell line, NF-κB reporter assay, multi-label immunofluorescence/confocal microscopy in whole-mount intestine Neurogastroenterology and motility Medium 24011459
2020 Trappc9-deficient mice exhibit cognitive/behavioral deficits and postnatal brain growth delay. Loss of Trappc9 compromises activation of Rab11 in brain, resulting in retardation of endocytic receptor recycling in neurons. An imbalance between dopamine D1 and D2 receptor-containing neurons in the striatum was found; pharmacological manipulation of dopamine receptors (D1 antagonist + D2 agonist) improved cognitive performance of Trappc9 null mice to wild-type levels. Trappc9 knockout mice, behavioral testing, biochemical Rab11-GTP pull-down assay, endocytic recycling assay in neurons, pharmacological rescue Science advances High 33208359
2020 Trappc9 shows maternal allelic expression bias (~70%) in mouse brain. Heterozygous mice lacking the maternal allele (≈70% expression reduction) develop microcephaly, reduced exploratory activity, and social memory deficits similar to homozygous knockouts, while mice lacking the paternal allele (≈30% reduction) are phenotypically normal, establishing a dose-threshold effect linked to imprinting. Allele-specific expression analysis, Trappc9 knockout and heterozygous mouse models, MRI, behavioral testing, food intake measurement in a child with TRAPPC9 deficiency PLoS genetics High 32877400
2019 TRAPPC9 co-immunoprecipitates with L-plastin (LPL) in mature osteoclasts (confirmed by mass spectrometry and reciprocal co-IP). TRAPPC9 colocalizes with LPL at the periphery of osteoclasts. Overexpression of TRAPPC9 promotes LPL recruitment to the actin ring, reorganizes actin clusters, and regulates vinculin recruitment to the osteoclast periphery to initiate podosome formation. Co-immunoprecipitation followed by mass spectrometry, immunofluorescence colocalization, viral overexpression system in osteoclasts Journal of cellular biochemistry Medium 31453638
2022 Patients with biallelic missense variants in TRAPPC9 present with an N-glycosylation defect (CDG type I pattern) in blood and fibroblasts. Tracer metabolomics in TRAPPC9-deficient fibroblasts revealed global metabolic changes including multiple glycosylation-related metabolites. Complementation with wild-type TRAPPC9 and immunofluorescence studies confirmed TRAPPC9 deficiency and abnormal localization, establishing that TRAPPC9 deficiency causes a congenital disorder of glycosylation. N-glycosylation analysis of patient blood/fibroblasts, tracer metabolomics, wild-type TRAPPC9 complementation, immunofluorescence localization in patient fibroblasts Genetics in medicine Medium 35042660
2022 In TRAPPC9 variant (p.Phe232Leu) patient fibroblasts, mutant TRAPPC9 protein accumulates around the nucleus rather than displaying normal distribution. This disrupted localization reduces the amount of neutral lipid-carrying vesicles and their homogeneous distribution, linking abnormal TRAPPC9 localization to defective lipid vesicle trafficking. Immunostaining in patient fibroblasts, lipid droplet staining, western blotting, qRT-PCR Journal of human genetics Low 34983975
2023 Nibp/Trappc9 deficiency in zebrafish (morpholino knockdown and CRISPR mutation) and mice (Cre/LoxP) impairs stability of the TRAPPII complex at actin filaments and microtubules of neurites and growth cones, resulting in defective elongation and branching of neuronal dendrites and axons without significant effects on neurite initiation or neural cell number/type. Morpholino knockdown in zebrafish, CRISPR/Cas9 mutation in zebrafish, Cre/LoxP knockout in mice, immunofluorescence of TRAPPII complex at cytoskeletal structures, neuronal morphometry International journal of biological sciences High 37416774
2024 Trappc9-deficient mice have impaired dopamine synapse formation in the striatum: they synthesize dopamine normally but dopamine-secreting neurons have reduced abundance of dopamine-release structures. Combined transcriptomic (RNA-seq of DRD2 neurons) and proteomic (brain synaptosome) analyses show signs of impaired neurotransmitter secretion. Chronic treatment with DRD2 agonist quinpirole plus DRD1 antagonist SCH23390 relieved obesity and NAFLD; quinpirole alone restored blood glucose homeostasis. Trappc9 KO mice, RNA-sequencing, proteomics of synaptosomes, histological and biochemical examination of dopamine synaptic structures, pharmacological rescue JCI insight Medium 38889014
2024 Leishmania upregulates host TRAPPC9 (the GEF for Rab18) and Rab18 expression in macrophages by reducing Dicer via gp63 metalloprotease, thereby downregulating miR-1914-3p which normally suppresses both TRAPPC9 and Rab18. This results in recruitment of lipid bodies to Leishmania-containing parasitophorous vacuoles and acquisition of host fatty acids for parasite growth; overexpression of miR-1914-3p blocks LB recruitment and suppresses parasite multiplication. miRNA overexpression/inhibition, Dicer knockdown, miR-1914-3p reporter assays, lipid body imaging, fatty acid transfer assay in macrophages PLoS pathogens Medium 38412149
2024 Trappc9-deficient primary hippocampal neurons accumulate a larger lipid droplet (LD) volume per cell following oleic acid stimulation, with markedly reduced Perilipin-2 coating of LDs, implicating the TRAPPII-Rab18 axis in neuronal LD homeostasis. In vivo, Trappc9 KO mice show disproportionate hippocampal volume reduction associated with loss of Sox2-positive neural stem/progenitor cells. Trappc9 KO mice, in vivo MRI, immunofluorescence (Sox2, Perilipin-2), lipid droplet staining in primary hippocampal neurons Neurobiology of disease Medium 38331351
2017 NIBP/TRAPPC9 knockdown in HCT116 colorectal cancer cells reduces phosphorylation of p65, IκBα, IκBβ, ERK1/2, and JNK1/2 following TNFα stimulation, but does not affect basal p-ERK1/2 in the absence of TNFα stimulation. This places NIBP in the canonical NF-κB pathway and indicates it also modulates TNFα-induced MAPK (ERK/JNK) signaling. Lentiviral shRNA knockdown in HCT116 cells, western blotting of pathway components after TNFα stimulation, in vivo orthotopic xenograft PloS one Medium 28125661
2022 Trappc9-null adipose-derived stem cells (ASCs) exhibit premature senescence, preferential adipogenic differentiation, profound lipid droplet accumulation in adipogenic cells, and altered calcium deposition in osteoblasts. Trappc9 deficiency upregulates expression of Rab1, Rab11, and Rab18, and agitates autophagy in ASCs. Neural stem cell content in the subventricular zone and dentate gyrus is vastly reduced in Trappc9-null mice. Isolation and in vitro differentiation of ASCs from Trappc9 KO mice, western blotting (Rab proteins, autophagy markers), immunofluorescence of neural stem cells in KO brain International journal of molecular sciences Medium 35563289

Source papers

Stage 0 corpus · 49 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. American journal of human genetics 123 20004763
2009 Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. American journal of human genetics 114 20004765
2005 Mutants in trs120 disrupt traffic from the early endosome to the late Golgi. The Journal of cell biology 106 16314430
2005 NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation. The Journal of biological chemistry 104 15951441
2012 TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. European journal of human genetics : EJHG 62 22549410
2011 The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. PloS one 54 21858081
2012 A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. European journal of medical genetics 37 22989526
2012 TRAPPC9 mediates the interaction between p150 and COPII vesicles at the target membrane. PloS one 35 22279557
2020 Trappc9 deficiency in mice impairs learning and memory by causing imbalance of dopamine D1 and D2 neurons. Science advances 29 33208359
2019 Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability. Frontiers in genetics 28 30853973
2017 Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 28 29031008
2010 A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. American journal of medical genetics. Part A 28 20425834
2015 Elevated NIBP/TRAPPC9 mediates tumorigenesis of cancer cells through NFκB signaling. Oncotarget 26 25704885
2017 The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. European journal of human genetics : EJHG 24 29187737
2020 Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Molecular genetics & genomic medicine 23 32162493
2016 NIBP impacts on the expression of E-cadherin, CD44 and vimentin in colon cancer via the NF-κB pathway. Molecular medicine reports 23 27109343
2020 Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases. Translational research : the journal of laboratory and clinical medicine 21 32434006
2020 Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity. PLoS genetics 20 32877400
2018 TRAPPC9: Novel insights into its trafficking and signaling pathways in health and disease (Review). International journal of molecular medicine 20 30272317
2013 Expression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous system. Neurogastroenterology and motility 20 24011459
2021 Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. Genes 18 33921338
2021 Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder. Frontiers in genetics 17 33719327
2022 TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genetics in medicine : official journal of the American College of Medical Genetics 16 35042660
2022 Genetic polymorphisms of TRAPPC9 and CD4 genes and their association with milk production and mastitis resistance phenotypic traits in Chinese Holstein. Frontiers in veterinary science 15 36213405
2018 Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Molecular genetics & genomic medicine 14 29693325
2017 Knockdown of NIK and IKKβ-Binding Protein (NIBP) Reduces Colorectal Cancer Metastasis through Down-Regulation of the Canonical NF-κΒ Signaling Pathway and Suppression of MAPK Signaling Mediated through ERK and JNK. PloS one 12 28125661
2019 [Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 11 31703139
2014 Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation. CNS & neurological disorders drug targets 11 24040793
2024 Leishmania highjack host lipid body for its proliferation in macrophages by overexpressing host Rab18 and TRAPPC9 by downregulating miR-1914-3p expression. PLoS pathogens 10 38412149
2022 Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability. Journal of human genetics 10 34983975
2022 Identification of TRAPPC9 and BAIAP2 Gene Polymorphisms and Their Association With Fat Deposition-Related Traits in Hu Sheep. Frontiers in veterinary science 10 35865874
2022 Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review. Molecular syndromology 10 36158060
2021 Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran. Molecular genetics & genomic medicine 9 33513295
2022 Trappc9 Deficiency Impairs the Plasticity of Stem Cells. International journal of molecular sciences 8 35563289
2021 Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly. European journal of medical genetics 6 34737153
2025 Chromium-Doped NiBP Micro-Sphere Electrocatalysts for Green Hydrogen Production under Industrial Operational Conditions. Small methods 5 39828627
2023 Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice. International journal of biological sciences 5 37416774
2023 TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature. Molecular syndromology 5 38058760
2022 A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. BMC medical genomics 5 36348459
2022 TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 5 36574751
2019 A novel regulatory role of TRAPPC9 in L-plastin-mediated osteoclast actin ring formation. Journal of cellular biochemistry 5 31453638
2024 Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in Trappc9-linked brain developmental syndrome. JCI insight 4 38889014
2022 Variable allelic expression of imprinted genes at the Peg13, Trappc9, Ago2 cluster in single neural cells. Frontiers in cell and developmental biology 4 36313557
2024 Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies. Journal of human genetics 3 38467738
2024 Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice. Neurobiology of disease 2 38331351
2024 Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay. Frontiers in genetics 2 39184350
2024 Overexpression of ZFP69B promotes hepatocellular carcinoma growth by upregulating the expression of TLX1 and TRAPPC9. Cell division 2 39261946
2025 Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9. Genes 1 41300827
2017 Expression of NIBP and its clinical significance in human early colorectal cancer. International journal of clinical and experimental pathology 1 31966720

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