TRAPPC9
| TRAPPC9 | |||
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Gene ontology | |||
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| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| RefSeq (protein) |
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| Location (UCSC) | Chr 8: 139.73 – 140.46 Mb | Chr 15: 72.46 – 72.93 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167632 – Ensembl, May 2017
- ^ a b c 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 21858081.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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