TNIP1

TNIP1
식별자
에일리어스	TNIP1, ABIN-1, NAF1, VAN, nip40-1, TNFAIP3 상호작용 단백질 1
외부 ID	OMIM : 607714 MGI : 1926194 HomoloGene : 31355 GenCard : TNIP1
유전자 위치(인간)
크르.	5번 염색체(인간)
끝.	151,093,577 bp
유전자 위치(마우스)
크르.	11번 염색체(쥐)
끝.	54,853,743 bp
RNA발현패턴
	상단 표시 위치:
	피; ; 위근; ; 골수 세포; ; 비장; ; 양수; ; 피하 지방 조직; ; 흉선; ; 복부 지방; ; 좌폐 상엽; ; 부록;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0001948 단백질 결합; 마이트젠활성화단백질인산화효소결합; 동일단백질결합; 폴리유비퀴틴 수식 의존성 단백질 결합;
셀룰러 컴포넌트	세포내 해부학적 구조; 핵소체; 핵; 세포; 세포질;
생물학적 과정	백혈구 세포 접착; 방위 응답; 당단백질생합성법; 바이러스 게놈 복제 음성 조절; 호스트 I-kappaB 키나제/NF-kappaB 캐스케이드의 공생에 의한 변조; 염증 반응의 양성 조절; 염증 반응; 단백질생합성; ERK1 및 ERK2 캐스케이드의 네거티브 조절; MyD88 의존성 톨라이크 수용체 시그널링 경로; 염증 반응 조절; I-kappaB인산화효소/NF-kappaB신호의 음성조절; 단백질탈유비퀴티네이션; RNA중합효소II에 의한 전사의 양성 조절; 리포다당류에 대한 세포반응; 단백질 탈유비퀴티네이션의 양성 조절;
	출처:아미고 / QuickGO
맞춤법
	10318
	57783
	ENSG00000145901
	ENSMUSG000020400
	문제 15025
	Q9WUU8
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
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
	위키데이터
인간 보기/편집	마우스 표시/편집

ABIN-1이라고도 알려진 TNFAIP3-상호작용 단백질 1은 TNIP1 ^[5]^[6]^[7]유전자에 의해 사람에게서 암호화되는 단백질이다.

자가면역질환과의 연관성

TNIP1 유전자 영역 내의 유전적 변이는 여러 자가면역질환과 관련이 있는 것으로 나타났다.

TNIP1 기능 장애 또는 결핍은 고염증에 기여하고 건강한 세포를 무해한 TLR 배위자 ^[15]노출에 대한 염증 반응에 소인시킬 수 있다.

신경변성 질환과의 관련성

최근 게놈 전체 연관 연구(GWAS)는 TNIP1의 유전적 변화가 후기 산발성 알츠하이머병(LOAD)[16]과 관련이 있다는 것을 발견했다.

상호 작용

TNIP1은 인산화 및 유비퀴티드화된 ^[17]여러 아미노산 사이트를 포함하고 있으며, TNFAIP3,^[18] MAP3K1,^[19] ^[20]MAPK1과 상호작용하는 것으로 나타났다.

규정

TNIP1은 BCL3에 의해 제어되는 문자 변환 모듈의 일부인 것으로 나타났습니다. BCL3 gen은 APOE에 대한 조건화 후 Aβ42와 강하게 관련되는 것으로 확인되었으며 ^[16]LOAD 환자의 뇌에서 상향 조절된 것으로 확인되었다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000145901 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020400 - 앙상블, 2017년 5월
^ "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. ISSN 1061-4036. 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.

추가 정보

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.

외부 링크

UCSC Genome Browser의 TNIP1 인간 유전자 위치.
UCSC Genome Browser의 TNIP1 인간 유전자 상세.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000145901 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000020400 - 앙상블, 2017년 5월

[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.

[pmid9923610-5] 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.

[pmid11090181-6] 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.

[entrez-7] "Entrez Gene: TNIP1 TNFAIP3 interacting protein 1".

[pmid21750679-8] 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.

[pmid19169254-9] 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.

[pmid21623003-10] 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.

[pmid19838195-11] 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.

[pmid19838193-12] 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.

[:0-16] 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. ISSN 1061-4036. PMID 34493870. S2CID 237442349.

[17] "TNIP1 (human)". www.phosphosite.org. Retrieved 2020-10-31.

[pmid10385526-18] 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.

[pmid12220502-20] 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.

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