NRF1, nuclear respiratory factor 1, 4899

N. diseases: 74; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 AlteredExpression disease BEFREE We demonstrate that insulin resistance and DM associate with reduced expression of multiple nuclear respiratory factor-1 (NRF-1)-dependent genes encoding key enzymes in oxidative metabolism and mitochondrial function. 12832613 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 AlteredExpression disease BEFREE With the Luminal A subtype of breast cancer, higher NRF1 expression is associated with lower survival. 29995872 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE With the Luminal A subtype of breast cancer, higher NRF1 expression is associated with lower survival. 29995872 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 AlteredExpression phenotype BEFREE Mechanistically, nutritional deficiencies could reduce hypoxia-inducible factor α (HIF-1α) protein expression to increase C-MYC protein level, which in turn increased nuclear respiratory factor 1 (NRF1) and mitochondrial transcription factor A (TFAM) transcription to enhance the activity of OXPHOS, suggesting that metabolic reprogramming by the changes of microenvironment during the carcinogenesis can provide some novel therapeutic clues to traditional cancer treatments. 26646563 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 AlteredExpression disease BEFREE Treatment with GPA significantly increased expression of PGC-1alpha, NRF1, Tfam and downstream genes in the striatum and cerebral cortex of wild-type (WT) mice, but there was no effect on these genes in the HD mice. 20529956 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE The immunohistochemical expression of nuclear NRF1 decreased from benign to dysplastic naevi (<i>p</i> < 0.001) and to primary melanoma (<i>p</i> < 0.001) and from primary melanoma to metastatic lesions (<i>p</i> = 0.012). 31687076 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE So these results suggest that NRF-1-mediated regulation of CD47 expression is a novel mechanism by which ERK signalling promotes the pathogenesis of melanoma, and that the combination of CD47 blockade and BRAF/MEK inhibitors may be a useful approach for improving their therapeutic efficacy. 29050218 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE LSD1-ERRα complex requires NRF1 to positively regulate transcription and cell invasion. 29968728 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 AlteredExpression disease BEFREE Taken together, these results demonstrated that miR-504 affected the radio-resistance of NPC by down-regulating the expression of NRF1 and disturbing mitochondrial respiratory function. 26201446 2015
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 AlteredExpression disease BEFREE PGC-1β, nuclear respiratory factor-1 (NRF-1) and Mfn1 mRNA as well as cytochrome C oxidase subunit IV (COXIV) mRNA and protein were lower in patients with ALS and ND. 22975021 2013
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 AlteredExpression disease BEFREE Together, these findings suggest that a combination of subunit displacement and reduced Nrf1 expression may be responsible for c-20S impairment in EAE. 31709534 2020
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 AlteredExpression disease LHGDN Nuclear respiratory factor 1 plays an essential role in transcriptional initiation from the hepatitis B virus x gene promoter. 15452206 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 AlteredExpression phenotype BEFREE In this study, we found that nuclear respiratory factor (NRF)-1, a key transcription factor for mitochondrial biogenesis, cooperated with DNA methylation to directly regulate the expression of multiple germ cell-specific genes, including <i>Asz1</i> In addition, conditional ablation of NRF1 in gonocytes dramatically down-regulated these germline genes, blocked germ cell proliferation, and subsequently led to male infertility in mice. 28754714 2017
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 AlteredExpression disease BEFREE Importantly, we revealed that HTLV-1 bZIP factor (HBZ) protein which is expressed in all ATL cases physically interacts with NRF-1 and inhibits the DNA-binding ability of NRF-1. 28993637 2017
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 AlteredExpression disease BEFREE Importantly, we revealed that HTLV-1 bZIP factor (HBZ) protein which is expressed in all ATL cases physically interacts with NRF-1 and inhibits the DNA-binding ability of NRF-1. 28993637 2017
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 AlteredExpression disease BEFREE Also, NRF1 mRNA levels decreased from benign naevi to dysplastic naevi (<i>p</i> = 0.034). 31687076 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 AlteredExpression group BEFREE Interestingly, the virus infection at the late stage (at 16 h after infection) stimulated TFAM expression but decreased the levels of both NRF1 and NRF2, indicating that virus infection activated TFAM signaling independent of either NRF1 or NRF2. 31011285 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 AlteredExpression group BEFREE Furthermore, overexpression of NRF‑1 increased the expression of B‑cell lymphoma‑2, hypoxia inducible factor‑1α and NRF‑2. 30628711 2019
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization 		0.010 AlteredExpression disease BEFREE Together, our data suggest TMP downregulates CXCR4 by repressing NRF-1 expression in CNV, likely indirectly by downregulating NFκB. 29801148 2018
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		0.010 AlteredExpression disease BEFREE This was consistent with our observation of higher NRF1 protein expression in the experimental model of HER2+ breast cancer brain metastasis. 30128822 2018
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 AlteredExpression disease BEFREE In mice, activation of Nrf1 and its downstream target, Tfam, by Escherichia coli was contingent on NFκB, and in LPS-treated hepatocytes, NFκB served as an NRF1 enhancer element in conjunction with NFκB promoter binding. 20587593 2010
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 AlteredExpression disease BEFREE This was consistent with our observation of higher NRF1 protein expression in the experimental model of HER2+ breast cancer brain metastasis. 30128822 2018
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 AlteredExpression disease BEFREE Additionally, the hormone induced the expression of the nuclear respiratory factors 1 and 2 (Nrf-1 and Nrf-2), the mitochondrial transcription factors A (Tfam) and B2 (TFB2M), and the optic atrophy 1 (OPA1). 31676390 2020
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 AlteredExpression disease BEFREE We show that complex I deficiency leads to a redox potential alteration and a significant reduction of sirtuin 1 (SIRT1) expression, a major deacetylase sensitive to the cellular redox state, and NRF1 the downstream target of SIRT1. 31655048 2020
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.010 AlteredExpression disease BEFREE There was no significant difference in the TFAM(p = 0.377), NRF-1 and NRF-2 expression between the POP and non-POP groups (p = 0.647; p = 0.682). 31307745 2019