TNF受容体1型

TNFRSF1A
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

1EXT, 1FT4, 1ICH, 1NCF, 1TNR

識別子
記号TNFRSF1A, CD120a, FPF, MS5, TBP1, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR1-d2, TNFR55, TNFR60, p55, p55-R, p60, tumor necrosis factor receptor superfamily member 1A, TNF receptor superfamily member 1A
外部IDOMIM: 191190 MGI: 1314884 HomoloGene: 828 GeneCards: TNFRSF1A
遺伝子の位置 (ヒト)
12番染色体 (ヒト)
染色体12番染色体 (ヒト)[1]
12番染色体 (ヒト)
TNFRSF1A遺伝子の位置
TNFRSF1A遺伝子の位置
バンドデータ無し開始点6,328,757 bp[1]
終点6,342,114 bp[1]
遺伝子の位置 (マウス)
6番染色体 (マウス)
染色体6番染色体 (マウス)[2]
6番染色体 (マウス)
TNFRSF1A遺伝子の位置
TNFRSF1A遺伝子の位置
バンドデータ無し開始点125,326,325 bp[2]
終点125,339,447 bp[2]
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• 血漿タンパク結合
• tumor necrosis factor-activated receptor activity
• tumor necrosis factor binding
• identical protein binding
細胞の構成要素• integral component of membrane
• ゴルジ体
• 膜
• ゴルジ膜
• receptor complex
• 細胞膜
• integral component of plasma membrane
• 細胞外領域
• cell surface
• ミトコンドリア
• 脂質ラフト
• 細胞外空間
• tumor necrosis factor receptor superfamily complex
生物学的プロセス• regulation of apoptotic process
• prostaglandin metabolic process
• 防衛反応
• positive regulation of ceramide biosynthetic process
• positive regulation of inflammatory response
• regulation of tumor necrosis factor-mediated signaling pathway
• tumor necrosis factor-mediated signaling pathway
• リポ多糖への反応
• cellular response to mechanical stimulus
• death-inducing signaling complex assembly
• regulation of cell population proliferation
• defense response to bacterium
• 免疫応答
• intrinsic apoptotic signaling pathway in response to DNA damage
• positive regulation of I-kappaB kinase/NF-kappaB signaling
• viral process
• I-kappaB kinase/NF-kappaB signaling
• negative regulation of inflammatory response
• regulation of establishment of endothelial barrier
• extrinsic apoptotic signaling pathway via death domain receptors
• positive regulation of transcription by RNA polymerase II
• シグナル伝達
• アポトーシス
• 炎症反応
• 細胞表面受容体シグナル伝達経路
• positive regulation of tyrosine phosphorylation of STAT protein
• protein localization to plasma membrane
• サイトカイン媒介シグナル伝達経路
• 大動脈弁発生
• 肺動脈弁発生
• negative regulation of extracellular matrix constituent secretion
• negative regulation of cardiac muscle hypertrophy
• positive regulation of apoptotic process involved in morphogenesis
出典:Amigo / QuickGO
オルソログ
種ヒトマウス
Entrez

7132

21937

Ensembl

ENSG00000067182

ENSMUSG00000030341

UniProt

P19438,F5H8A6

P25118

RefSeq
(mRNA)

NM_001065
NM_001346091
NM_001346092

NM_011609

RefSeq
(タンパク質)

NP_001056
NP_001333020
NP_001333021

NP_035739

場所
(UCSC)		Chr 12: 6.33 – 6.34 MbChr 12: 125.33 – 125.34 Mb
PubMed検索[3][4]
ウィキデータ
閲覧/編集 ヒト閲覧/編集 マウス

TNF受容体1型（1型TNF受容体、tumor necrosis factor receptor 1、TNFR1）、TNFRSF1A（tumor necrosis factor receptor superfamily, member 1A）またはCD120aはTNF-αを結合する膜受容体であり、普遍的に発現している[5][6][7]。

機能

TNFRSF1A遺伝子にコードされるTNFR1は、TNFR2（英語版）などとともにTNF受容体スーパーファミリー（英語版）を構成する。このタンパク質はTNF-αに対する主要な受容体の1つであり、転写因子NF-κBの活性化、アポトーシスの媒介、炎症の調節といった機能を果たす。抗アポトーシスタンパク質BAG4（英語版）やアダプタータンパク質TRADD（英語版）、TRAF2（英語版）がこの受容体と相互作用することが示されており、これらは受容体によって媒介されるシグナル伝達を調節する役割を果たしている[8]。

臨床的意義

この受容体の細胞外ドメイン領域に生じた生殖細胞系列変異（英語版）は、TNF受容体関連周期性症候群（英語版）（TRAPS）と呼ばれる遺伝疾患との関連が示されている[9]。この疾患の機序には受容体のクリアランスの機能不全が関係していると考えられている。

TNFRSF1A遺伝子の変異は、多発性硬化症のリスクの増大と関連している[10]。

統合失調症や双極性障害の患者では血清中の可溶性TNFR1濃度が上昇しており[11]、高値はより重篤な精神症状と関連している[12]。また、血清中の高濃度は認知機能障害や認知症とも関連している[13][14]。

相互作用

TNFRSF1Aは次に挙げる因子と相互作用することが示されている。

出典

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000067182 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030341 - Ensembl, May 2017
  3. ^ Human PubMed Reference:
  4. ^ Mouse PubMed Reference:
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  7. ^ Offermanns, Stefan; Rosenthal, Walter (2008). Encyclopedia of Molecular Pharmacology, Vol. 1 (2nd ed.). Heidelberg, Germany: Springer. p. 1248. ISBN 9783540389163. https://books.google.com/books?id=iwwo5gx8aX8C 
  8. ^ “Entrez Gene: TNFRSF1A tumor necrosis factor receptor superfamily, member 1A”. 2007年11月2日閲覧。
  9. ^ “Multiple sclerosis. TNFRSF1A, TRAPS and multiple sclerosis”. Nat Rev Neurol 5 (10): 528–9. (October 2009). doi:10.1038/nrneurol.2009.154. PMID 19794511. 
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  17. ^ a b “Cytoskeleton-mediated death receptor and ligand concentration in lipid rafts forms apoptosis-promoting clusters in cancer chemotherapy”. J. Biol. Chem. 280 (12): 11641–7. (2005). doi:10.1074/jbc.M411781200. PMID 15659383. 
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  23. ^ “Tumor necrosis factor alpha (TNF-alpha) activates Jak1/Stat3-Stat5B signaling through TNFR-1 in human B cells”. Cell Growth Differ. 13 (1): 13–8. (2002). PMID 11801527. 
  24. ^ “A novel interaction between the juxtamembrane region of the p55 tumor necrosis factor receptor and phosphatidylinositol-4-phosphate 5-kinase”. J. Biol. Chem. 272 (9): 5861–70. (1997). doi:10.1074/jbc.272.9.5861. PMID 9038203. 
  25. ^ “A protein related to a proteasomal subunit binds to the intracellular domain of the p55 TNF receptor upstream to its 'death domain'”. FEBS Lett. 367 (1): 39–44. (1995). doi:10.1016/0014-5793(95)00534-G. PMID 7601280. 
  26. ^ “Two-hybrid cloning of a gene encoding TNF receptor-associated protein 2, a protein that interacts with the intracellular domain of the type 1 TNF receptor: identity with subunit 2 of the 26S protease”. J. Immunol. 158 (9): 4252–9. (1997). doi:10.4049/jimmunol.158.9.4252. PMID 9126987. 
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