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DeutschTNIP1
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
[edit]Genetic 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
[edit]A 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
[edit]TNIP1 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
[edit]TNIP1 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
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000145901 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020400 – 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.
- ^ Fukushi M, Dixon J, Kimura T, Tsurutani N, Dixon MJ, Yamamoto N (January 1999). "Identification and cloning of a novel cellular protein Naf1, Nef-associated factor 1, that increases cell surface CD4 expression". FEBS Letters. 442 (1): 83–88. doi:10.1016/S0014-5793(98)01631-7. PMID 9923610. S2CID 86298611.
- ^ Gupta K, Ott D, Hope TJ, Siliciano RF, Boeke JD (December 2000). "A human nuclear shuttling protein that interacts with human immunodeficiency virus type 1 matrix is packaged into virions". Journal of Virology. 74 (24): 11811–11824. doi:10.1128/JVI.74.24.11811-11824.2000. PMC 112464. PMID 11090181.
- ^ "Entrez Gene: TNIP1 TNFAIP3 interacting protein 1".
- ^ Allanore Y, Saad M, Dieudé P, Avouac J, Distler JH, Amouyel P, et al. (July 2011). "Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis". PLOS Genetics. 7 (7): e1002091. doi:10.1371/journal.pgen.1002091. PMC 3131285. PMID 21750679.
- ^ Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, et al. (February 2009). "Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways". Nature Genetics. 41 (2): 199–204. doi:10.1038/ng.311. PMC 2745122. PMID 19169254.
- ^ Bowes J, Orozco G, Flynn E, Ho P, Brier R, Marzo-Ortega H, et al. (September 2011). "Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis". Annals of the Rheumatic Diseases. 70 (9): 1641–1644. doi:10.1136/ard.2011.150102. PMC 3147229. PMID 21623003.
- ^ Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, et al. (November 2009). "A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus". Nature Genetics. 41 (11): 1228–1233. doi:10.1038/ng.468. PMC 2925843. PMID 19838195.
- ^ Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, et al. (November 2009). "Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus". Nature Genetics. 41 (11): 1234–1237. doi:10.1038/ng.472. PMID 19838193. S2CID 205356205.
- ^ Oka S, Higuchi T, Furukawa H, Nakamura M, Komori A, Abiru S, et al. (June 2018). "Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population". Journal of Human Genetics. 63 (6): 739–744. doi:10.1038/s10038-018-0440-0. PMID 29559739. S2CID 4477603.
- ^ Brady MP, Korte EA, Caster DJ, Powell DW (October 2020). "TNIP1/ABIN1 and lupus nephritis: review". Lupus Science & Medicine. 7 (1): e000437. doi:10.1136/lupus-2020-000437. PMC 7597513. PMID 33122334.
- ^ Shamilov R, Aneskievich BJ (2018-10-03). "TNIP1 in Autoimmune Diseases: Regulation of Toll-like Receptor Signaling". Journal of Immunology Research. 2018: 3491269. doi:10.1155/2018/3491269. PMC 6192141. PMID 30402506.
- ^ a b Wightman DP, Jansen IE, Savage JE, Shadrin AA, Bahrami S, Holland D, et al. (September 2021). "A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease". Nature Genetics. 53 (9): 1276–1282. doi:10.1038/s41588-021-00921-z. hdl:1871.1/61f01aa9-6dc7-4213-be2a-d3fe622db488. ISSN 1061-4036. PMC 10243600. PMID 34493870. S2CID 237442349.
- ^ "TNIP1 (human)". www.phosphosite.org. Retrieved 2020-10-31.
- ^ 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.
- ^ Charlaftis N, Suddason T, Wu X, Anwar S, Karin M, Gallagher E (November 2014). "The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines". The EMBO Journal. 33 (21): 2581–2596. doi:10.15252/embj.201488351. PMC 4282369. PMID 25260751.
- ^ 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.
Further 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.