TNFAIP3-interacting protein 1, also known as ABIN-1, is a protein that in humans is encoded by the TNIP1 gene.[5][6][7]
Association with autoimmune diseases
editGenetic variations within the region of the TNIP1 gene have been shown to have association with several autoimmune diseases:
- Systemic Sclerosis;[8]
- Psoriasis;[9]
- Psoriatic arthritis;[10]
- Systemic Lupus Erythematosus[11][12]
- Type-1 autoimmune hepatitis[13]
- Lupus nephritis[14]
TNIP1 dysfunction or deficiency contributes to hyperinflammarion and may predispose healthy cells to the inflammatory response to otherwise innocuous TLR ligand exposure.[15]
Association with neurodegenerative diseases
editA recent genome-wide association study (GWAS) has found that genetic variations in TNIP1 are associated with late-onset sporadic Alzheimer’s disease (LOAD).[16]
Interactions
editTNIP1 contains multiple amino acid sites that are phosphorylated and ubiquitinated,[17] and has been shown to interact with TNFAIP3,[18] MAP3K1,[19] and MAPK1.[20]
Regulation
editTNIP1 was shown to be part of a transcription module controlled by BCL3. BCL3 gen was found to be strongly associated with Aβ42 after conditioning for APOE and was found as upregulated in the brain of patients with LOAD.[16]
References
editFurther reading
edit- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. CiteSeerX 10.1.1.500.923. doi:10.1093/dnares/9.3.99. PMID 12168954.
- Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, et al. (1995). "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 2 (1): 37–43. doi:10.1093/dnares/2.1.37. PMID 7788527.
- Loftus SK, Dixon J, Koprivnikar K, Dixon MJ, Wasmuth JJ (January 1996). "Transcriptional map of the Treacher Collins candidate gene region". Genome Research. 6 (1): 26–34. doi:10.1101/gr.6.1.26. PMID 8681136.
- Jäkel S, Görlich D (August 1998). "Importin beta, transportin, RanBP5 and RanBP7 mediate nuclear import of ribosomal proteins in mammalian cells". The EMBO Journal. 17 (15): 4491–4502. doi:10.1093/emboj/17.15.4491. PMC 1170780. PMID 9687515.
- Heyninck K, De Valck D, Vanden Berghe W, Van Criekinge W, Contreras R, Fiers W, et al. (June 1999). "The zinc finger protein A20 inhibits TNF-induced NF-kappaB-dependent gene expression by interfering with an RIP- or TRAF2-mediated transactivation signal and directly binds to a novel NF-kappaB-inhibiting protein ABIN". The Journal of Cell Biology. 145 (7): 1471–1482. doi:10.1083/jcb.145.7.1471. PMC 2133159. PMID 10385526.
- Zhang S, Fukushi M, Hashimoto S, Gao C, Huang L, Fukuyo Y, et al. (September 2002). "A new ERK2 binding protein, Naf1, attenuates the EGF/ERK2 nuclear signaling". Biochemical and Biophysical Research Communications. 297 (1): 17–23. doi:10.1016/S0006-291X(02)02086-7. PMID 12220502.
- Leonard D, Ajuh P, Lamond AI, Legerski RJ (September 2003). "hLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA splicing". Biochemical and Biophysical Research Communications. 308 (4): 793–801. CiteSeerX 10.1.1.539.8359. doi:10.1016/S0006-291X(03)01486-4. PMID 12927788.
- Gallagher J, Howlin J, McCarthy C, Murphy EP, Bresnihan B, FitzGerald O, et al. (September 2003). "Identification of Naf1/ABIN-1 among TNF-alpha-induced expressed genes in human synoviocytes using oligonucleotide microarrays". FEBS Letters. 551 (1–3): 8–12. doi:10.1016/S0014-5793(03)00823-8. PMID 12965196. S2CID 2796577.
- Favre M, Butticaz C, Stevenson B, Jongeneel CV, Telenti A (October 2003). "High frequency of alternative splicing of human genes participating in the HIV-1 life cycle: a model using TSG101, betaTrCP, PPIA, INI1, NAF1, and PML". Journal of Acquired Immune Deficiency Syndromes. 34 (2): 127–133. doi:10.1097/00126334-200310010-00002. PMID 14526201.
- Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, et al. (September 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–1718. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Hoareau-Aveilla C, Bonoli M, Caizergues-Ferrer M, Henry Y (May 2006). "hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase". RNA. 12 (5): 832–840. doi:10.1261/rna.2344106. PMC 1440901. PMID 16601202.
External links
edit- TNIP1 human gene location in the UCSC Genome Browser.
- TNIP1 human gene details in the UCSC Genome Browser.