Gene Gene information from NCBI Gene database.
Entrez ID 4899
Gene name Nuclear respiratory factor 1
Gene symbol NRF1
Synonyms (NCBI Gene)
ALPHA-PAL
Chromosome 7
Chromosome location 7q32.2
Summary 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.
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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600879 7996 ENSG00000106459
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ANVRSDVRTEEQKQRVSWTQALRTIVKNCYKQHGREDLLYAFE
DQQTQTQATATHSIAHL
VPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAE
ATLQGGGQIVLSGETAAAVGALTGVQDANGLVQIPVSMYQTVVTSLAQGNGPVQVAMAPV
TTRISDSAVTMDGQAVEVVTLEQ
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apelin signaling pathway
Huntington disease
  PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adrenal Insufficiency Associate 30740912
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Inhibit 22077634
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Associate 28094792, 31755389
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bowen's Disease Stimulate 21514422
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Diseases Associate 37098490
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 18823535, 21233487, 22234241, 23172368, 27515002, 27746856, 30106093, 32705365, 36960492, 39380996
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 31687076
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 34763625, 35448958, 38011090, 38255847
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 37875967
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Associate 21447778
★☆☆☆☆
Found in Text Mining only