缺陷的 TPR 可能增加甲状腺乳头状癌 (TPC) 的易感性
中文名称
通路描述
核孔复合物 (NPC) 将货物转运穿过核膜。核蛋白 TPR 作为核相中的支架元件,对于蛋白质和 mRNA 的正常核质运输至关重要。复合物中的葡萄糖激酶 (GCK1) 和葡萄糖激酶调节蛋白 (GKRP) 可通过 NPC 转运至细胞核。TPR 的缺陷可能增加甲状腺乳头状癌 (TPC; MIM:18850) 的易感性,这是一种常见的甲状腺肿瘤,通常从正常的甲状腺组织中形成不规则、实性或囊性肿块 (Vriens et al. 2009, Bonora et al. 2010)。
英文描述
Transcriptional activation of mitochondrial biogenesis Phosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate the transcription of nuclear-encoded, mitochondrially targeted proteins such as TFB2M, TFB1M, and TFAM. PGC-1beta and PPRC appear to act similarly to PGC-1alpha but have not been as well studied. Transcription of PPARGC1A itself is upregulated by CREB1 (in response to calcium), MEF2C/D, ATF2, and PPARGC1A. Transcription of PPARGC1A is repressed by NR1D1 (REV-ERBA).
所含基因
53 个基因
ACSS2
ALAS1
ATF2
ATP5F1B
CALM1
CAMK4
CARM1
CHD9
CREB1
CREBBP
CRTC1
CRTC2
CRTC3
CYCS
ESRRA
GABPA
GLUD1
GLUD2
HCFC1
HDAC3
HELZ2
IDH2
MED1
MEF2C
MEF2D
MTERF
NCOA1
NCOA2
NCOA6
NCOR1
NR1D1
NRF1
PERM1
POLG2
POLRMT
PPARA
PPARGC1A
PPARGC1B
PPRC1
RXRA
SIRT3
SIRT4
SIRT5
SMARCD3
SOD2
SSBP1
TBL1X
TBL1XR1
TFAM
TFB1M
TFB2M
TGS1
TWNK