NRF1 (nuclear respiratory factor 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4899
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear respiratory factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NRF1
Synonyms (NCBI Gene) Gene synonyms aliases
ALPHA-PAL
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial D
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(624)
miRTarBase ID miRNA Experiments Reference
MIRT022754 hsa-miR-124-3p Microarray 18668037
MIRT044600 hsa-miR-320a CLASH 23622248
MIRT721722 hsa-miR-944 HITS-CLIP 19536157
MIRT721721 hsa-miR-140-3p HITS-CLIP 19536157
MIRT721720 hsa-miR-6776-5p HITS-CLIP 19536157
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
CREB1 Unknown 20587593
ESR1 Activation 21486948
MEF2A Activation 18222924
NFKB1 Unknown 20587593
RELA Unknown 20587593
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 19674972, 23525105
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 19674972, 23525105
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600879 7996 ENSG00000106459
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q16656
Protein name Nuclear respiratory factor 1 (NRF-1) (Alpha palindromic-binding protein) (Alpha-pal)
Protein function Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respirati
PDB 8K3D , 8K4L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10491 Nrf1_DNA-bind 75 → 283 NLS-binding and DNA-binding and dimerisation domains of Nrf1 Family
PF10492 Nrf1_activ_bdg 449 → 503 Nrf1 activator activation site binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with strongest expression in skeletal muscle.
Sequence 
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILN
STAADEVTAHLAAAGPVGMAAAAAVATGKKRKRPHVFESNPSIRKRQQTRLLRKLRATLD
EYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPW
ANVRSDVRTEEQKQRVSWTQALRTIVKNCYKQHGREDLLYAFEDQQTQTQATATHSIAHL
VPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAE
ATLQGGGQIVLSGETAAAVGALTGVQDANGLVQIPVSMYQTVVTSLAQGNGPVQVAMAPV
TTRISDSAVTMDGQAVEVVTLEQ
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Apelin signaling pathway
Huntington disease 		  PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia in chronic migraine N/A N/A GWAS
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Insufficiency Associate 30740912
Alzheimer Disease Inhibit 22077634
Alzheimer Disease Associate 28094792, 31755389
Bowen's Disease Stimulate 21514422
Brain Diseases Associate 37098490
Breast Neoplasms Associate 18823535, 21233487, 22234241, 23172368, 27515002, 27746856, 30106093, 32705365, 36960492, 39380996
Carcinogenesis Associate 31687076
Carcinoma Hepatocellular Associate 34763625, 35448958, 38011090, 38255847
Carcinoma Hepatocellular Stimulate 37875967
Carcinoma Ovarian Epithelial Associate 21447778