TRAPPC9

TRAPPC9
Identifiers
Aliases	TRAPPC9, IBP, IKBKBBP, MRT13, NIBP, TRS120, T1, trafficking protein particle complex 9, trafficking protein particle complex subunit 9
External IDs	OMIM: 611966; MGI: 1923760; HomoloGene: 81931; GeneCards: TRAPPC9; OMA:TRAPPC9 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q24.3 Start 139,727,725 bp End 140,458,579 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 D3 Start 72,461,469 bp End 72,933,053 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle apex of heart pancreatic ductal cell ganglionic eminence right uterine tube prefrontal cortex anterior pituitary islet of Langerhans tendon of biceps brachii Top expressed in neural layer of retina muscle of thigh dentate gyrus of hippocampal formation granule cell primary visual cortex right kidney spermatocyte cerebellar cortex habenula central gray substance of midbrain seminiferous tubule More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol trans-Golgi network Golgi apparatus endoplasmic reticulum Golgi membrane TRAPP complex Biological process cell differentiation COPII vesicle coating positive regulation of NF-kappaB transcription factor activity neuron differentiation cerebral cortex development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 83696 76510 Ensembl ENSG00000167632 ENSMUSG00000047921 UniProt Q96Q05 Q3U0M1 RefSeq (mRNA) NM_001160372 NM_031466 NM_001321646 NM_001374682 NM_001374683 NM_001374684 NM_001164641 NM_001164642 NM_001164643 NM_029640 NM_180662 RefSeq (protein) NP_001153844 NP_001308575 NP_113654 NP_001361611 NP_001361612 NP_001361613 NP_001158113 NP_001158115 NP_083916 NP_850993 Location (UCSC) Chr 8: 139.73 – 140.46 Mb Chr 15: 72.46 – 72.93 Mb PubMed search
Wikidata
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Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene.

Function

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.

Further reading

• Hu WH, Pendergast JS, Mo XM, Brambilla R, Bracchi-Ricard V, Li F, Walters WM, Blits B, He L, Schaal SM, Bethea JR (2005). "NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation". J. Biol. Chem. 280 (32): 29233–41. doi:10.1074/jbc.M501670200. PMC 3707486. PMID 15951441.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y (2009). "Association of gene polymorphisms with chronic kidney disease in Japanese individuals". Int. J. Mol. Med. 24 (4): 539–47. doi:10.3892/ijmm_00000263. PMID 19724895.
• Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y (2010). "Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals". Am. J. Hypertens. 23 (1): 70–7. doi:10.1038/ajh.2009.190. PMID 19851296.
• Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA (2009). "A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly". Am. J. Hum. Genet. 85 (6): 897–902. doi:10.1016/j.ajhg.2009.10.027. PMC 2790576. PMID 20004763.
• Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB (2009). "Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation". Am. J. Hum. Genet. 85 (6): 909–15. doi:10.1016/j.ajhg.2009.11.009. PMC 2790571. PMID 20004765.
• Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y (2010). "Association of genetic variants with hemorrhagic stroke in Japanese individuals". Int. J. Mol. Med. 25 (4): 649–56. doi:10.3892/ijmm_00000388. PMID 20198315.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Barrowman J, Bhandari D, Reinisch K, Ferro-Novick S (2010). "TRAPP complexes in membrane traffic: convergence through a common Rab". Nat. Rev. Mol. Cell Biol. 11 (11): 759–63. doi:10.1038/nrm2999. PMID 20966969.
• Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S (2011). "The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability". PLoS ONE. 6 (8): e23350. doi:10.1371/journal.pone.0023350. PMC 3156116. PMID 21858081.{{cite journal}}: CS1 maint: unflagged free DOI (link)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.