종양 괴사 인자 수용체 1

Tumor necrosis factor receptor 1
TNFRSF1A
Protein TNFRSF1A PDB 1ext.png
사용 가능한 구조물
PDB직교 검색: PDBe RCSB
식별자
별칭TNFRSF1A, 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
외부 IDOMIM: 191190 MGI: 1314884 HomoloGene: 828 GeneCard: TNFRSF1A
직교체
종인간마우스
엔트레스

7132

21937

앙상블

ENSG00000067182

ENSMUSG00000030341

유니프로트

P19438

P25118

RefSeq(mRNA)

NM_001065
NM_001346091
NM_001346092

NM_011609

RefSeq(단백질)

NP_001056
NP_001333020
NP_001333021

NP_035739

위치(UCSC)Chr 12: 6.33 – 6.34MbChr 6: 125.33 – 125.34Mb
PubMed 검색[3][4]
위키다타
인간 보기/편집마우스 보기/편집

종양 괴사 인자 수용체 슈퍼패밀리 멤버 1A(TNFRSF1A), CD120a로도 알려진 종양 괴사 인자 수용체 1(TNFR1)은 종양 괴사 인자-알파(TNFα)[5][6][7]를 결합한 유비쿼터스 멤브레인 수용체다.

함수

이 유전자가 인코딩한 단백질은 종양 괴사인자 수용체 슈퍼패밀리의 일종으로 TNFRSF1B도 함유하고 있다.이 단백질은 종양 괴사 인자-알파의 주요 수용체 중 하나이다.이 수용체는 전사인자 NF-κB를 활성화하고, 세포사멸을 중재할 수 있으며, 염증의 조절기로서의 기능을 할 수 있다.항갑상선 단백질 BCL2 관련 아타노제네4(BAG4/SODD)와 어댑터 단백질 TRADD 및 TRAF2가 이 수용체와 상호작용하는 것으로 나타났으며, 따라서 수용체에 의해 매개되는 신호 전달에서 규제적 역할을 한다.[8]

임상적 유의성

이 수용체의 세포외 영역의 세균선 돌연변이는 종양 괴사인자 관련 주기증후군(TRAP) 또는 주기열 증후군이라는 인간의 유전적 질환과 관련이 있는 것으로 밝혀졌다.[9]수용체 간극이 손상된 것은 그 질병의 메커니즘으로 생각된다.

TNFRSF1A 유전자의 돌연변이는 다발성 경화증의 위험 증가와 관련이 있다.[10]

TNFRSF1A의 혈청 수치는 조현병과 조울증에서 상승하며,[11] 높은 수치는 더 심각한 정신질환 증상과 관련이 있다.[12]

높은 혈청 수치는 인지장애와 치매와도 관련이 있다.[13][14]

상호작용

TNFRSF1A는 다음과 상호 작용하는 것으로 나타났다.

참고 항목

참조

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