TNIP1

TNIP1
Identifiers
Aliases	TNIP1 , ABIN-1, NAF1, VAN, nip40-1, TNFAIP3 interacting protein 1
External IDs	OMIM: 607714; MGI: 1926194; HomoloGene: 31355; GeneCards: TNIP1; OMA:TNIP1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q33.1 Start 151,029,945 bp [1] End 151,093,577 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B1.3 Start 54,801,611 bp [2] End 54,853,743 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood muscle of thigh epithelium of colon apex of heart gastrocnemius muscle glutes bone marrow cells granulocyte cartilage tissue spleen Top expressed in decidua left colon temporal muscle granulocyte triceps brachii muscle muscle of thigh mesenteric lymph nodes sternocleidomastoid muscle jejunum pyloric antrum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding mitogen-activated protein kinase binding identical protein binding polyubiquitin modification-dependent protein binding Cellular component intracellular anatomical structure nucleoplasm nucleus cytosol cytoplasm Biological process leukocyte cell-cell adhesion defense response glycoprotein biosynthetic process negative regulation of viral genome replication modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade positive regulation of inflammatory response inflammatory response protein biosynthesis negative regulation of ERK1 and ERK2 cascade MyD88-dependent toll-like receptor signaling pathway regulation of inflammatory response negative regulation of I-kappaB kinase/NF-kappaB signaling protein deubiquitination positive regulation of transcription by RNA polymerase II cellular response to lipopolysaccharide positive regulation of protein deubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10318 57783 Ensembl ENSG00000145901 ENSMUSG00000020400 UniProt Q15025 Q9WUU8 RefSeq (mRNA) NM_001252385 NM_001252386 NM_001252390 NM_001252391 NM_001252392 NM_001252393 NM_001258454 NM_001258455 NM_001258456 NM_006058 NM_001364486 NM_001364487 NM_001199275 NM_001199276 NM_001271455 NM_001271456 NM_021327 RefSeq (protein) NP_001239314 NP_001239315 NP_001239319 NP_001239320 NP_001239321 NP_001239322 NP_001245383 NP_001245384 NP_001245385 NP_006049 NP_001351415 NP_001351416 NP_001186204 NP_001186205 NP_001258384 NP_001258385 NP_067302 Location (UCSC) Chr 5: 151.03 – 151.09 Mb Chr 11: 54.8 – 54.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

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

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

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

1. GRCh38: Ensembl release 89: ENSG00000145901 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020400 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: TNIP1 TNFAIP3 interacting protein 1".
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. "TNIP1 (human)". www.phosphosite.org. Retrieved 2020-10-31.
18. 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.
19. 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.
20. 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

• 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

• TNIP1 human gene location in the UCSC Genome Browser .
• TNIP1 human gene details in the UCSC Genome Browser .