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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NRF1 Gene

protein-coding GIFtS: 61
GCID: GC07P129251

nuclear respiratory factor 1

Explore 25 diseases affiliated with
NRF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Respiratory Factor 1¹ ²
ALPHA-PAL¹ ²
Alpha Palindromic-Binding Protein² ³
NRF-1² ³
EWG¹
Alpha-Pal¹

External Ids:	HGNC: 7996¹	Entrez Gene: 4899²	Ensembl: ENSG00000106459⁷	OMIM: 600879⁵	UniProtKB: Q16656³

Export aliases for NRF1 gene to outside databases

Previous GC identifers: GC07P127727 GC07P128790 GC07P128804 GC07P128845 GC07P129038 GC07P123613

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NRF1:

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 DNA transcription and replication. The protein has also been associated with the regulation of

neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized.

Additional variants encoding different protein isoforms have been described but they have not been fully

characterized. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and

for 'nuclear factor (erythroid-derived 2)-like 1' which has an official symbol of NFE2L1. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656

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 respiration, heme biosynthesis, and mitochondrial DNA transcription and replication

Gene Wiki entry for NRF1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NRF1 gene promoter:
MEF-2A aMEF-2 YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NRF1 promoter sequence

Search SABiosciences Chromatin IP Primers for NRF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NRF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q32 Ensembl cytogenetic band: 7q32.2 HGNC cytogenetic band: 7q32

NRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRF1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P129251: view genomic region (about GC identifiers)

Start:	129,251,555 bp from pter	End:	129,396,922 bp from pter
Size:	145,368 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 128,635,837-128,781,204

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656 (See protein sequence)

Recommended Name: Nuclear respiratory factor 1

Size: 503 amino acids; 53541 Da

Subunit: Homodimer. Binds DNA as a dimer. Interacts with PPRC1

Subcellular location: Nucleus

Secondary accessions: Q15305

Alternative splicing: 2 isoforms: Q16656-1 Q16656-2

Explore the universe of human proteins at neXtProt for NRF1: NX_Q16656

Post-translational modifications:

Phosphorylation enhances DNA binding¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16656

NRF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035199.1 NP_005002.3

ENSEMBL proteins:

ENSP00000394877 ENSP00000223190 ENSP00000309826 ENSP00000376922 ENSP00000376924

ENSP00000342351 ENSP00000376923 ENSP00000440455

Reactome Protein details: Q16656
Human Recombinant Protein Products:

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	Uscn Proteins for NRF1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

NRF1 for ontologies About GeneDecksing

NRF1 Antibody Products:

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	Uscn ELISAs and CLIAs for NRF1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NRF1 for domains About GeneDecksing

2 InterPro domains/families:

IPR019526 Nrf1_activation-bd

IPR019525 Nrf1_NLS/DNA-bd_dimer

Graphical View of Domain Structure for InterPro Entry Q16656

ProtoNet protein and cluster: Q16656

1 Blocks protein family: IPB002100 Transcription factor

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656

Similarity: Belongs to the NRF1/Ewg family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656

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 respiration, heme biosynthesis, and mitochondrial DNA transcription and replication

Genatlas biochemistry entry for NRF1:

nuclear respiratory factor 1,involved in the regulation of mitochondrial biogenesis and in oxidative phosphorylation

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NRF1 Browse MicroRNA Expression Plasmids
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		hsa-miR-411* hsa-miR-379* hsa-miR-300 hsa-miR-199a-3p hsa-miR-411 hsa-miR-485-3p hsa-miR-25 hsa-miR-371-5p

		SwitchGear 3'UTR luciferase reporter plasmid: NRF1 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRF1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--

NRF1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for NRF1:

Increased gamma-H2AX phosphory

Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nrf1):

cellular

mortality/aging

NRF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Expression of ALAS1

Expression of ALAS1

1.00

Mitochondrial Gene Expression

Mitochondrial Gene Expression

1.00

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Huntington's disease

0.40

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for NRF1

PGC1Alpha Pathway

2 BioSystems Pathways for NRF1

	Mitochondrial Gene Expression
	Energy Metabolism

5/6 Reactome Pathways for NRF1 (see all 6)

	Expression of ALAS1
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
	Metabolism
	PPARA Activates Gene Expression
	Fatty acid, triacylglycerol, and ketone body metabolism

1 Kegg Pathway (Kegg details for NRF1):

Huntington's disease

NRF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NRF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for NRF1 (Q16656³ ENSP00000223190⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPARGC1A	Q9UBK2³, ENSP00000264867⁴	I2D: score=2 STRING: ENSP00000264867
NFE2L2	Q16236³, ENSP00000380252⁴	I2D: score=1 STRING: ENSP00000380252
PPRC1	Q5VV67³, ENSP00000278070⁴	I2D: score=3 STRING: ENSP00000278070
CEBPB	P17676³, ENSP00000305422⁴	I2D: score=1 STRING: ENSP00000305422
DYNLL1	P63167³, ENSP00000242577⁴	I2D: score=3 STRING: ENSP00000242577

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0006091	generation of precursor metabolites and energy	TAS	7629110
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	8034649
GO:0007005	mitochondrion organization	IEA	--

NRF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NRF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NRF1

5 HMDB Compounds for NRF1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

10/13 Novoseek chemical compound relationships for NRF1 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pgc1	77.2	1	11099489 (1)
aicar	51.3	2	16380484 (1), 15294043 (1)
citrate	41.8	1	12882902 (1)
atp	33.7	5	1348057 (2), 12539966 (1), 20107110 (1)
oxygen	29.9	7	16650604 (2), 12882902 (1), 10364186 (1), 18252725 (1)
ionomycin	24	2	10381170 (1), 15294043 (1)
carnitine	9.93	4	12149506 (2), 9326621 (1)
fatty acid	3.41	1	15525607 (1)
nitric oxide	0	3	14764826 (1), 15483672 (1), 19615412 (1)
lipid	0	2	16650604 (2)

Search CenterWatch for drugs/clinical trials and news about NRF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NRF1 gene (2 alternative transcripts):

NM_001040110.1 NM_005011.3

Unigene Cluster for NRF1:

Nuclear respiratory factor 1

Hs.654363 [show with all ESTs]

Unigene Representative Sequence: NM_005011

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000477428 ENST00000454688 ENST00000223190 ENST00000311967 ENST00000393230(uc003vpb.3)

ENST00000393232(uc003voz.3 uc003vpa.3 uc011kpa.2) ENST00000353868

ENST00000393231 ENST00000539636

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		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate NRF1 (see all 54):
		hsa-miR-411* hsa-miR-379* hsa-miR-300 hsa-miR-199a-3p hsa-miR-411 hsa-miR-485-3p hsa-miR-25 hsa-miR-371-5p

		SwitchGear 3'UTR luciferase reporter plasmid: NRF1 3' UTR sequence

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Additional cDNA sequence:

AK290891.1 AK293351.1 BC016925.1 EU159452.1 L22454.1 U44848.1

8 DOTS entries:

DT.95271802 DT.100751923 DT.95271800 DT.100751922 DT.100751925 DT.100751926 DT.86800018 DT.99966657

24/106 AceView cDNA sequences (see all 106):

BM839518 BX095165 AA461131 AW003022 BM825134 BU622865 AW304848 BM849892

AI784124 BM846421 AA643873 AI354871 AI633375 BM717416 NM_005011 BQ922657

BM701679 AA460829 AW408538 AA989293 BI962805 BC016925 BM724718 BF591398

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for NRF1 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	·	17c
SP1:							-		-		-																		-		-
SP2:									-		-																		-		-						-
SP3:							-		-		-																		-		-						-
SP4:							-		-
SP5:

ECgene alternative splicing isoforms for NRF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NRF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTCTGTGT

About this image

NRF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Bud

Hepatoblasts

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NRF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NRF1

SOURCE GeneReport for Unigene cluster: Hs.654363

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656

Tissue specificity: Ubiquitously expressed with strongest expression in skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Arrays including NRF1:

Diabetes in human mouse rat

Adipogenesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NRF1 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nrf1^{1 , 5}	nuclear respiratory factor 1^{1, 5}	91.85(n)¹ 99.78(a)¹		6 (12.47 cM)⁵ 18181¹ NM_001164227.1¹ NP_001157699.1¹ 30047988⁵
chicken (Gallus gallus)	Aves	NRF1¹	nuclear respiratory factor 1	83.43(n) 99.01(a)		416677 NM_001030646.1 NP_001025817.1
lizard (Anolis carolinensis)	Reptilia	NRF1⁶	--	97(a)	1 ↔ 1	GL343653.1(297522-353632)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3115²	Xenopus laevis transcribed sequence with strong similarity more	78.09(n)		BJ072101.1
zebrafish (Danio rerio)	Actinopterygii	nrf1²	nuclear respiratory factor 1	75.91(n)		64604 BC044537.1
fruit fly (Drosophila melanogaster)	Insecta	ewg^{1 , 3}	central nervous system development DNA binding³ erect wing¹	60(a)³ 49.64(n)¹ 45.85(a)¹		1 1A1³ 30975¹ NM_057544.4¹ NP_476892.4¹

ENSEMBL Gene Tree for NRF1 (if available)
TreeFam Gene Tree for NRF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80203507^1,2		--	129249573(+)	`GGTGTA/TGAGAG`	1	--	us2k¹		0	--	--	--	--
rs73464643^1,2	C,	--	129249581(+)	`GAGAAA/GTGAAG`	1	--	us2k¹		2		WA	120
rs73464644^1,2	C,	--	129249618(+)	`AACAGC/TTGTGA`	1	--	us2k¹		1		WA	2
rs183181333^1,2		--	129249634(+)	`CACAAC/TTTCCA`	1	--	us2k¹		0	--	--	--	--
rs141798816^1,2		--	129249658(+)	`TGAGAA/GCTTCC`	1	--	us2k¹		0	--	--	--	--
rs6961102^1,2	C,H,	--	129249773(+)	`CTTTAA/TCCTAC`	1	--	us2k¹		12		NA WA CSA EA	375
rs150500105^1,2		--	129249853(+)	`CAAGCG/TGTAGT`	1	--	us2k¹		0	--	--	--	--
rs186525468^1,2		--	129249908(+)	`TCTACC/TGCAGT`	1	--	us2k¹		0	--	--	--	--
rs191799692^1,2		--	129249995(+)	`GGCTGC/GGTGCA`	1	--	us2k¹		0	--	--	--	--
rs139466865^1,2		--	129250133(+)	`CCGGGC/TGTGGT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NRF1 (129251555 - 129396922 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for NRF1
3 CNVs: 70041 52089 52088

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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NRF1 for disorders           About GeneDecksing

OMIM gene information: 600879    OMIM disorders: --

20/25 diseases for NRF1 (see all 25):    About MalaCards

focal segmental glomerulosclerosis type 2 diabetes mellitus fragile x syndrome mental retardation syndrome

diabetes mellitus glomerulosclerosis epithelial ovarian cancer nephrosis

insulin resistance ovarian cancer huntington's disease hepatitis b

breast cancer endometrial cancer liver disease rhabdomyosarcoma

hyperglycemia hepatitis cholesterol hypoxia

2 diseases from the University of Copenhagen DISEASES database for NRF1:

Skin carcinoma in situ Fragile X syndrome

7 Novoseek disease relationships for NRF1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitochondrial diseases	43.2	1	7629110 (1)
oncocytoma	32	2	14550271 (1)
niddm	7.44	1	16082529 (1)
breast cancer	0	1	18823535 (1)
tumors	0	2	14550271 (1)
obesity	0	1	17397829 (1)
cancer	0	2	12174908 (1), 20145141 (1)

Genetic Association Database (GAD): NRF1
Human Genome Epidemiology (HuGE) Navigator: NRF1 (14 documents)

Export disorders for NRF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NRF1 gene, integrated from 9 sources (see all 184):
(articles sorted by number of sources associating them with NRF1)

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Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. (PubMed id 7629110)^{1, 2, 9} Gopalakrishnan L. and Scarpulla R.C. (1995)
NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators. (PubMed id 8253388)^{1, 2, 9} Virbasius C.A.... Scarpulla R.C. (1993)
Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells. (PubMed id 11340167)^{1, 2, 9} Andersson U. and Scarpulla R.C. (2001)
Serine phosphorylation within a concise amino-terminal domain in nuclear respiratory factor 1 enhances DNA binding. (PubMed id 9228045)^{1, 2, 9} Gugneja S. and Scarpulla R.C. (1997)
A key transcription factor for eukaryotic initiation factor-2 alpha is strongly homologous to developmental transcription factors and may link metabolic genes to cellular growth and development. (PubMed id 8034649)^{1, 2, 9} Efiok B.J.S.... Safer B. (1994)
Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population. (PubMed id 16082529)^{1, 4, 9} Cho Y.M....Lee H.K. (2005)
The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines. (PubMed id 8541844)^{1, 2, 9} Spelbrink J.N. and Van den Bogert C. (1995)
Identification and characterization of a novel transcription factor participating in the expression of eukaryotic initiation factor 2 alpha. (PubMed id 2584221)^{1, 3} Jacob W.F....Safer B. (1989)
Poly(ADP-ribose) Polymerase 1 Interacts with Nuclear Respiratory Factor 1 (NRF-1) and Plays a Role in NRF-1 Transcriptional Regulation. (PubMed id 19181665)^{1, 9} Hossain M.B....Takada S. (2009)
Respiratory uncoupling induces delta-aminolevulinate synthase expression through a nuclear respiratory factor-1-dependent mechanism in HeLa cells. (PubMed id 10364186)^{1, 9} Li B....Semenkovich C.F. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4899	HGNC: 7996	AceView: NRF1	Ensembl:ENSG00000106459	euGenes: HUgn4899
ECgene: NRF1	Kegg: 4899	H-InvDB: NRF1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NRF1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NRF1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for NRF1 gene
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Patent Information for NRF1 gene:
Search GeneIP for patents involving NRF1

GeneCards and IP:
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