| TRAPPC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene.[5]
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.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000167632 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047921 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Trafficking protein particle complex 9". Retrieved 2017-06-10.
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.
- 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. S2CID 20099084.
- 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. Bibcode:2011PLoSO...623350Z. doi:10.1371/journal.pone.0023350. PMC 3156116. PMID 21858081.
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