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RIPK1
PDBに登録されている構造
PDB	オルソログ検索: RCSB PDBe PDBj
PDBのIDコード一覧
	4ITH, 4ITI, 4ITJ, 4NEU, 5HX6
識別子
記号	RIPK1, RIP, RIP1, RIP-1, receptor interacting serine/threonine kinase 1, IMD57, AIEFL
外部ID	OMIM: 603453 MGI: 108212 HomoloGene: 2820 GeneCards: RIPK1
EC番号	2.7.11.1
遺伝子の位置 (ヒト)
染色体	6番染色体 (ヒト)
終点	3,115,187 bp
遺伝子の位置 (マウス)
染色体	13番染色体 (マウス)
終点	34,221,130 bp
RNA発現パターン
	さらなる参照発現データ
遺伝子オントロジー
分子機能	• トランスフェラーゼ活性; • protein kinase activity; • ヌクレオチド結合; • death domain binding; • キナーゼ活性; • protein serine/threonine kinase activity; • 血漿タンパク結合; • identical protein binding; • ATP binding; • ubiquitin protein ligase binding; • シグナルトランスデューサー活性; • protein-containing complex binding; • death receptor binding; • JUN kinase kinase kinase activity;
細胞の構成要素	• 膜; • receptor complex; • 細胞膜; • ミトコンドリア; • 細胞死誘導シグナル伝達複合体; • 脂質ラフト; • 細胞質; • 細胞質基質; • endosome membrane; • ripoptosome; • 高分子複合体;
生物学的プロセス	• T cell apoptotic process; • positive regulation of protein phosphorylation; • amyloid fibril formation; • positive regulation of cell death; • リン酸化; • regulation of ATP:ADP antiporter activity; • peptidyl-serine autophosphorylation; • regulation of tumor necrosis factor-mediated signaling pathway; • positive regulation of macrophage differentiation; • cellular response to tumor necrosis factor; • cellular response to growth factor stimulus; • negative regulation of extrinsic apoptotic signaling pathway; • positive regulation of programmed cell death; • tumor necrosis factor-mediated signaling pathway; • positive regulation of JNK cascade; • regulation of reactive oxygen species metabolic process; • negative regulation of I-kappaB kinase/NF-kappaB signaling; • TRIF-dependent toll-like receptor signaling pathway; • response to tumor necrosis factor; • positive regulation of necroptotic process; • タンパク質リン酸化; • positive regulation of reactive oxygen species metabolic process; • death-inducing signaling complex assembly; • positive regulation of NF-kappaB transcription factor activity; • necroptotic signaling pathway; • positive regulation of interleukin-8 production; • positive regulation of tumor necrosis factor production; • positive regulation of apoptotic process; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • positive regulation of extrinsic apoptotic signaling pathway; • 自己リン酸化; • regulation of extrinsic apoptotic signaling pathway via death domain receptors; • ネクロトーシス（またはネクロプトーシス）; • positive regulation of phosphorylation; • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; • I-kappaB kinase/NF-kappaB signaling; • activation of cysteine-type endopeptidase activity involved in apoptotic process; • protein homooligomerization; • positive regulation of transcription by RNA polymerase II; • ripoptosome assembly; • シグナル伝達; • positive regulation of MAPK cascade; • positive regulation of hydrogen peroxide-induced cell death; • apoptotic signaling pathway; • アポトーシス; • プログラム細胞死; • extrinsic apoptotic signaling pathway; • positive regulation of necrotic cell death; • negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; • protein deubiquitination; • ripoptosome assembly involved in necroptotic process; • MyD88-independent toll-like receptor signaling pathway; • toll-like receptor 3 signaling pathway; • viral process; • protein heterooligomerization; • MAPK cascade; • negative regulation of cardiac muscle cell proliferation; • cellular response to hydrogen peroxide; • programmed necrotic cell death; • positive regulation of tumor necrosis factor-mediated signaling pathway; • positive regulation of production of miRNAs involved in gene silencing by miRNA; • negative regulation of G1/S transition of mitotic cell cycle;
	出典:Amigo / QuickGO
オルソログ
	8737
	19766
	ENSG00000137275
	ENSMUSG00000021408
	Q13546
	Q60855
NM_003804; NM_001317061; NM_001354930; NM_001354931; NM_001354932;
	NM_001354933; NM_001354934
	NM_009068; NM_001359997
NP_001303990; NP_003795; NP_001341859; NP_001341860; NP_001341861;
	NP_001341862; NP_001341863
	NP_033094; NP_001346926
	ウィキデータ
閲覧/編集ヒト	閲覧/編集マウス

RIPK1（receptor interacting serine/threonine kinase 1）は、細胞の生存と死の両方に関連するさまざまな細胞経路で機能する。炎症の重要なメディエータである。細胞死に関しては、アポトーシスとネクロトーシスに関与する。ヒトでは、6番染色体上にあるRIPK1遺伝子によってコードされる酵素。

自己炎症性疾患

再発性の発熱とリンパ節腫脹を特徴とする自己炎症性疾患は、この遺伝子の突然変異と関連する^[5]。

CRIA症候群（cleavage-resistant RIPK1-induced autoinflammatory syndrome）は、RIPK1遺伝子の特定の変異によって引き起こされる障害。症状には、「発熱、リンパ節の腫れ、腹痛、胃腸の問題、頭痛、場合によっては脾臓と肝臓の異常な肥大」などがある^[6]。

出典

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137275 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021408 - Ensembl, May 2017
^ Human PubMed Reference:
^ Mouse PubMed Reference:
^ Tao, Panfeng; Sun, Jinqiao; Wu, Zheming; Wang, Shihao; Wang, Jun; Li, Wanjin; Pan, Heling; Bai, Renkui et al. (2020-01). “A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1”. Nature 577 (7788): 109–114. doi:10.1038/s41586-019-1830-y. ISSN 1476-4687. PMID 31827280.
^ Lalaoui, Najoua; Boyden, Steven E.; Oda, Hirotsugu; Wood, Geryl M.; Stone, Deborah L.; Chau, Diep; Liu, Lin; Stoffels, Monique et al. (2020-01). “Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease”. Nature 577 (7788): 103–108. doi:10.1038/s41586-019-1828-5. ISSN 1476-4687. PMC 6930849. PMID 31827281.

この項目は、医学に関連した書きかけの項目です。この項目を加筆・訂正などしてくださる協力者を求めています（プロジェクト:医学／Portal:医学と医療）。

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137275 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021408 - Ensembl, May 2017

[3] Human PubMed Reference:

[4] Mouse PubMed Reference:

[5] Tao, Panfeng; Sun, Jinqiao; Wu, Zheming; Wang, Shihao; Wang, Jun; Li, Wanjin; Pan, Heling; Bai, Renkui et al. (2020-01). “A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1”. Nature 577 (7788): 109–114. doi:10.1038/s41586-019-1830-y. ISSN 1476-4687. PMID 31827280.

[6] Lalaoui, Najoua; Boyden, Steven E.; Oda, Hirotsugu; Wood, Geryl M.; Stone, Deborah L.; Chau, Diep; Liu, Lin; Stoffels, Monique et al. (2020-01). “Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease”. Nature 577 (7788): 103–108. doi:10.1038/s41586-019-1828-5. ISSN 1476-4687. PMC 6930849. PMID 31827281.

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RIPK1

自己炎症性疾患

出典

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