NRF1 (nuclear respiratory factor 1) - Rat Genome Database

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Gene: NRF1 (nuclear respiratory factor 1) Homo sapiens
Analyze
Symbol: NRF1
Name: nuclear respiratory factor 1
RGD ID: 1312137
HGNC Page HGNC:7996
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in Huntington's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha palindromic-binding protein; ALPHA-PAL; NRF-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387129,611,720 - 129,757,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7129,611,720 - 129,757,082 (+)EnsemblGRCh38hg38GRCh38
GRCh377129,251,561 - 129,396,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367129,038,791 - 129,184,158 (+)NCBINCBI36Build 36hg18NCBI36
Build 347128,845,547 - 128,989,805NCBI
Celera7124,047,294 - 124,192,656 (+)NCBICelera
Cytogenetic Map7q32.2NCBI
HuRef7123,613,242 - 123,758,239 (+)NCBIHuRef
CHM1_17129,185,036 - 129,330,325 (+)NCBICHM1_1
T2T-CHM13v2.07130,924,847 - 131,070,183 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27128,635,837 - 128,781,204 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-noradrenaline  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP,ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (EXP)
2,4-dinitrophenol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-bromo-3',5'-cyclic GMP  (EXP)
acadesine  (EXP)
acetylsalicylic acid  (ISO)
acrolein  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (ISO)
all-trans-retinoic acid  (ISO)
alloxan  (ISO)
AM-251  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arachidonyl-2'-chloroethylamide  (ISO)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
Butylbenzyl phthalate  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
calycosin  (ISO)
carbon monoxide  (ISO)
CHIR 99021  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyprodinil  (EXP)
dexamethasone  (ISO)
Di-n-octyl phthalate  (EXP)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP)
elemental selenium  (ISO)
enalapril  (ISO)
enniatin  (ISO)
enzyme inhibitor  (EXP)
Erythropoietin  (EXP)
ethidium  (EXP)
fenthion  (ISO)
fenvalerate  (ISO)
fludioxonil  (EXP)
Flumetralin  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (EXP)
Genipin  (ISO)
Gingerenone A  (ISO)
hemin  (ISO)
hexadecanoic acid  (ISO)
hydrogen peroxide  (EXP)
indinavir  (ISO)
isoniazide  (EXP)
lenvatinib  (ISO)
Licarin A  (ISO)
losartan  (ISO)
LY294002  (EXP,ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
mepanipyrim  (EXP)
metformin  (EXP,ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methoxyacetic acid  (ISO)
methylglyoxal  (ISO)
methylmercury chloride  (ISO)
mitomycin C  (ISO)
monascin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
monocrotophos  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (ISO)
nickel dichloride  (ISO)
oleic acid  (ISO)
oxaliplatin  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
potassium chloride  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propham  (EXP)
pyrimethanil  (EXP)
pyrroloquinoline quinone  (EXP)
quercetin  (ISO)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
selenium atom  (ISO)
sodium arsenite  (EXP,ISO)
sodium hydrogensulfite  (ISO)
Soman  (ISO)
stavudine  (ISO)
sulforaphane  (EXP)
sulfur dioxide  (ISO)
T-2 toxin  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
topotecan  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
zidovudine  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Impairment of PGC-1alpha expression, neuropathology and hepatic steatosis in a transgenic mouse model of Huntington's disease following chronic energy deprivation. Chaturvedi RK, etal., Hum Mol Genet. 2010 Aug 15;19(16):3190-205. Epub 2010 Jun 7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Nrf2 signaling in coordinated activation of antioxidant gene expression. Jaiswal AK Free Radic Biol Med 2004 May 15;36(10):1199-207.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease. Taherzadeh-Fard E, etal., Mol Neurodegener. 2011 May 19;6(1):32.
8. WY14643 improves left ventricular myocardial mitochondrial and systolic functions in obese rats under chronic persistent hypoxia via the PPARα pathway. Yan J, etal., Life Sci. 2021 Feb 1;266:118888. doi: 10.1016/j.lfs.2020.118888. Epub 2020 Dec 10.
9. Rapidly increased neuronal mitochondrial biogenesis after hypoxic-ischemic brain injury. Yin W, etal., Stroke. 2008 Nov;39(11):3057-63. Epub 2008 Aug 21.
10. Genomic modulation of mitochondrial respiratory genes in the hypertrophied heart reflects adaptive changes in mitochondrial and contractile function. Zungu M, etal., Am J Physiol Heart Circ Physiol. 2007 Nov;293(5):H2819-25. Epub 2007 Aug 17.
Additional References at PubMed
PMID:2584221   PMID:7558044   PMID:7629110   PMID:8034649   PMID:8108407   PMID:8253388   PMID:8541844   PMID:9108165   PMID:9228045   PMID:9492280   PMID:10222232   PMID:10364186  
PMID:10412986   PMID:10777530   PMID:11058604   PMID:11069771   PMID:11340167   PMID:11457459   PMID:11943463   PMID:12477932   PMID:12490281   PMID:12690205   PMID:12832613   PMID:12958173  
PMID:14715254   PMID:14747477   PMID:14962666   PMID:15126285   PMID:15257658   PMID:15308669   PMID:15342556   PMID:15452206   PMID:15479157   PMID:15525513   PMID:15656981   PMID:15684387  
PMID:15992771   PMID:16082529   PMID:16864783   PMID:18071027   PMID:18184751   PMID:18222924   PMID:18234454   PMID:18364745   PMID:18660489   PMID:18719883   PMID:19056867   PMID:19181665  
PMID:19453261   PMID:19460752   PMID:19674972   PMID:19913121   PMID:20561910   PMID:20587593   PMID:20599696   PMID:20628086   PMID:20724482   PMID:21146886   PMID:21447778   PMID:21486948  
PMID:21516116   PMID:21609478   PMID:21873635   PMID:22105178   PMID:22379092   PMID:22580151   PMID:23048038   PMID:23251661   PMID:23525105   PMID:23602572   PMID:23816881   PMID:23939472  
PMID:24204994   PMID:24875355   PMID:25416956   PMID:25609649   PMID:25792330   PMID:25959814   PMID:25965299   PMID:25976310   PMID:26201446   PMID:26492917   PMID:26760575   PMID:26871637  
PMID:26949251   PMID:27035420   PMID:27107012   PMID:27173435   PMID:27491637   PMID:27515002   PMID:28164673   PMID:28514442   PMID:28611215   PMID:28878026   PMID:28993637   PMID:29255090  
PMID:29908161   PMID:29941490   PMID:29968728   PMID:29995872   PMID:30128822   PMID:30268580   PMID:30642892   PMID:30814566   PMID:30833558   PMID:30914440   PMID:31290617   PMID:31350280  
PMID:31628195   PMID:31687076   PMID:31862413   PMID:32188015   PMID:32296183   PMID:32543769   PMID:32594352   PMID:32705365   PMID:32810507   PMID:32867330   PMID:33301849   PMID:33376579  
PMID:33592266   PMID:33858292   PMID:33887608   PMID:33933455   PMID:33933661   PMID:33961781   PMID:34052660   PMID:34070531   PMID:34373451   PMID:34637754   PMID:34649278   PMID:34763625  
PMID:35213938   PMID:35274224   PMID:35441887   PMID:35448958   PMID:35678885   PMID:35748872   PMID:35831314   PMID:35985685   PMID:36071454   PMID:36170818   PMID:36215168   PMID:36360268  
PMID:36738378   PMID:36960492   PMID:36974812   PMID:36989111   PMID:37084817   PMID:37402316   PMID:37539637   PMID:37668961   PMID:37739987   PMID:37875967   PMID:37962027   PMID:37996059  
PMID:38011090   PMID:38055835   PMID:38656405  


Genomics

Comparative Map Data
NRF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387129,611,720 - 129,757,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7129,611,720 - 129,757,082 (+)EnsemblGRCh38hg38GRCh38
GRCh377129,251,561 - 129,396,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367129,038,791 - 129,184,158 (+)NCBINCBI36Build 36hg18NCBI36
Build 347128,845,547 - 128,989,805NCBI
Celera7124,047,294 - 124,192,656 (+)NCBICelera
Cytogenetic Map7q32.2NCBI
HuRef7123,613,242 - 123,758,239 (+)NCBIHuRef
CHM1_17129,185,036 - 129,330,325 (+)NCBICHM1_1
T2T-CHM13v2.07130,924,847 - 131,070,183 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27128,635,837 - 128,781,204 (+)NCBI
Nrf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39630,047,984 - 30,153,462 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl630,047,987 - 30,153,457 (+)EnsemblGRCm39 Ensembl
GRCm38630,047,985 - 30,153,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl630,047,988 - 30,153,458 (+)EnsemblGRCm38mm10GRCm38
MGSCv37629,997,988 - 30,103,458 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36629,997,998 - 30,103,468 (+)NCBIMGSCv36mm8
Celera630,053,407 - 30,160,369 (+)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.47NCBI
Nrf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8459,632,366 - 59,738,166 (+)NCBIGRCr8
mRatBN7.2458,664,932 - 58,772,328 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl458,664,957 - 58,825,328 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx463,642,477 - 63,739,391 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0459,558,637 - 59,655,557 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0457,960,536 - 58,057,462 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0457,335,732 - 57,445,317 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl457,378,069 - 57,445,341 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0457,097,471 - 57,207,118 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4456,949,553 - 57,048,149 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1457,267,163 - 57,331,137 (+)NCBI
Celera453,766,265 - 53,861,921 (+)NCBICelera
Cytogenetic Map4q22NCBI
Nrf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547910,324,443 - 10,472,875 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547910,325,214 - 10,471,421 (+)NCBIChiLan1.0ChiLan1.0
NRF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26166,429,088 - 166,574,279 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1718,439,333 - 18,584,524 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07121,574,061 - 121,719,604 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17134,095,925 - 134,240,158 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7134,113,482 - 134,240,158 (+)Ensemblpanpan1.1panPan2
NRF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1147,085,018 - 7,218,802 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl147,085,791 - 7,193,034 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha146,770,310 - 6,906,180 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0146,848,014 - 6,983,992 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl146,848,018 - 6,983,930 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1147,053,598 - 7,189,532 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0146,795,757 - 6,931,636 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0146,940,039 - 7,075,975 (-)NCBIUU_Cfam_GSD_1.0
Nrf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511825,291,442 - 25,427,802 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365795,423,773 - 5,561,003 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365795,424,049 - 5,560,355 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1818,998,930 - 19,142,628 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11819,008,408 - 19,142,678 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NRF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12198,227,088 - 98,377,095 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2198,268,395 - 98,377,096 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660425,026,792 - 5,175,767 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247836,488,380 - 6,602,250 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247836,488,653 - 6,654,304 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRF1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3
pathogenic
NM_001040110.1(NRF1):c.1348+4116G>C single nucleotide variant Lung cancer [RCV000105604] Chr7:129731481 [GRCh38]
Chr7:129371321 [GRCh37]
Chr7:7q32.2
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_005011.5(NRF1):c.240C>T (p.Ala80=) single nucleotide variant not provided [RCV000960261] Chr7:129671445 [GRCh38]
Chr7:129311285 [GRCh37]
Chr7:7q32.2
benign
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1 copy number loss not provided [RCV000847911] Chr7:121480906..129389003 [GRCh37]
Chr7:7q31.32-32.2
pathogenic
NM_005011.5(NRF1):c.132G>A (p.Ser44=) single nucleotide variant not provided [RCV000896321] Chr7:129657483 [GRCh38]
Chr7:129297323 [GRCh37]
Chr7:7q32.2
benign
NM_005011.5(NRF1):c.1233C>T (p.Ala411=) single nucleotide variant not provided [RCV000963355] Chr7:129727250 [GRCh38]
Chr7:129367090 [GRCh37]
Chr7:7q32.2
benign
GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1 copy number loss not provided [RCV002473525] Chr7:129147455..132777678 [GRCh37]
Chr7:7q32.1-33
uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33
pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
NM_005011.5(NRF1):c.675del (p.Glu227fs) deletion not provided [RCV002291482] Chr7:129709139 [GRCh38]
Chr7:129348979 [GRCh37]
Chr7:7q32.2
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_005011.5(NRF1):c.1207A>G (p.Thr403Ala) single nucleotide variant not specified [RCV004326751] Chr7:129717360 [GRCh38]
Chr7:129357200 [GRCh37]
Chr7:7q32.2
uncertain significance
NM_005011.5(NRF1):c.1306G>A (p.Ala436Thr) single nucleotide variant not specified [RCV004177338] Chr7:129727323 [GRCh38]
Chr7:129367163 [GRCh37]
Chr7:7q32.2
uncertain significance
NM_005011.5(NRF1):c.1074A>C (p.Gln358His) single nucleotide variant not specified [RCV004167267] Chr7:129717227 [GRCh38]
Chr7:129357067 [GRCh37]
Chr7:7q32.2
uncertain significance
NM_005011.5(NRF1):c.1318G>A (p.Gly440Arg) single nucleotide variant not specified [RCV004084226] Chr7:129727335 [GRCh38]
Chr7:129367175 [GRCh37]
Chr7:7q32.2
uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33
pathogenic
GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1 copy number loss not provided [RCV003482986] Chr7:127076892..129405807 [GRCh37]
Chr7:7q31.33-32.2
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_005011.5(NRF1):c.55G>T (p.Ala19Ser) single nucleotide variant not specified [RCV004322436] Chr7:129657406 [GRCh38]
Chr7:129297246 [GRCh37]
Chr7:7q32.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3644
Count of miRNA genes:748
Interacting mature miRNAs:864
Transcripts:ENST00000223190, ENST00000311967, ENST00000353868, ENST00000393230, ENST00000393231, ENST00000393232, ENST00000454688, ENST00000477428, ENST00000539636
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G63529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,332,870 - 129,333,150UniSTSGRCh37
Build 367129,120,106 - 129,120,386RGDNCBI36
Celera7124,128,596 - 124,128,876RGD
Cytogenetic Map7q32UniSTS
HuRef7123,694,524 - 123,694,804UniSTS
CRA_TCAGchr7v27128,717,153 - 128,717,433UniSTS
SHGC-148196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,329,303 - 129,329,635UniSTSGRCh37
Build 367129,116,539 - 129,116,871RGDNCBI36
Celera7124,125,028 - 124,125,360RGD
Cytogenetic Map7q32UniSTS
HuRef7123,690,956 - 123,691,288UniSTS
CRA_TCAGchr7v27128,713,585 - 128,713,917UniSTS
TNG Radiation Hybrid Map758128.0UniSTS
PMC97559P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,357,067 - 129,357,184UniSTSGRCh37
Build 367129,144,303 - 129,144,420RGDNCBI36
Celera7124,152,796 - 124,152,913RGD
CRA_TCAGchr7v27128,741,356 - 128,741,473UniSTS
RH17635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,396,032 - 129,396,155UniSTSGRCh37
Build 367129,183,268 - 129,183,391RGDNCBI36
Celera7124,191,766 - 124,191,889RGD
Cytogenetic Map7q32UniSTS
HuRef7123,757,349 - 123,757,472UniSTS
CRA_TCAGchr7v27128,780,314 - 128,780,437UniSTS
GeneMap99-GB4 RH Map7589.99UniSTS
NCBI RH Map71192.6UniSTS
GDB:3755106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,263,364 - 129,263,462UniSTSGRCh37
Build 367129,050,600 - 129,050,698RGDNCBI36
Celera7124,059,104 - 124,059,202RGD
Cytogenetic Map7q32UniSTS
HuRef7123,625,047 - 123,625,145UniSTS
CRA_TCAGchr7v27128,647,658 - 128,647,756UniSTS
RH41864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,381,878 - 129,382,093UniSTSGRCh37
Build 367129,169,114 - 129,169,329RGDNCBI36
Celera7124,177,609 - 124,177,824RGD
Cytogenetic Map7q32UniSTS
HuRef7123,743,182 - 123,743,397UniSTS
CRA_TCAGchr7v27128,766,156 - 128,766,371UniSTS
GeneMap99-GB4 RH Map7592.24UniSTS
NCBI RH Map71179.1UniSTS
D7S3063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,395,226 - 129,395,449UniSTSGRCh37
Build 367129,182,462 - 129,182,685RGDNCBI36
Celera7124,190,962 - 124,191,183RGD
Cytogenetic Map7q32UniSTS
HuRef7123,756,545 - 123,756,766UniSTS
CRA_TCAGchr7v27128,779,510 - 128,779,731UniSTS
NFE2L1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1485 1309 1005 109 1171 70 3256 878 1662 210 1211 1510 56 1 675 2019 5 1
Low 954 1680 721 515 778 395 1101 1319 2072 209 249 103 119 529 769 1 1
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC078846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI816827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL530274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG742958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM449724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP215381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN998889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU159452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC309804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY166547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L22454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U27701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000223190   ⟹   ENSP00000223190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,611,756 - 129,756,015 (+)Ensembl
RefSeq Acc Id: ENST00000311967   ⟹   ENSP00000309826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,611,756 - 129,756,015 (+)Ensembl
RefSeq Acc Id: ENST00000353868   ⟹   ENSP00000342351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,630,078 - 129,757,080 (+)Ensembl
RefSeq Acc Id: ENST00000393230   ⟹   ENSP00000376922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,630,068 - 129,757,082 (+)Ensembl
RefSeq Acc Id: ENST00000393232   ⟹   ENSP00000376924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,611,720 - 129,757,076 (+)Ensembl
RefSeq Acc Id: ENST00000454688   ⟹   ENSP00000394877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,611,747 - 129,709,097 (+)Ensembl
RefSeq Acc Id: ENST00000477428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,611,739 - 129,633,780 (+)Ensembl
RefSeq Acc Id: NM_001040110   ⟹   NP_001035199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,630,068 - 129,757,076 (+)NCBI
GRCh377129,251,555 - 129,396,922 (+)NCBI
Build 367129,057,155 - 129,184,158 (+)NCBI Archive
HuRef7123,613,242 - 123,758,239 (+)ENTREZGENE
CHM1_17129,203,373 - 129,330,325 (+)NCBI
T2T-CHM13v2.07130,943,179 - 131,070,183 (+)NCBI
CRA_TCAGchr7v27128,635,837 - 128,781,204 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001293163   ⟹   NP_001280092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,611,720 - 129,757,076 (+)NCBI
CHM1_17129,185,024 - 129,330,325 (+)NCBI
T2T-CHM13v2.07130,924,847 - 131,070,183 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293164   ⟹   NP_001280093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,611,720 - 129,757,076 (+)NCBI
CHM1_17129,185,024 - 129,330,325 (+)NCBI
T2T-CHM13v2.07130,924,847 - 131,070,183 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005011   ⟹   NP_005002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,611,720 - 129,757,076 (+)NCBI
GRCh377129,251,555 - 129,396,922 (+)NCBI
Build 367129,038,791 - 129,184,158 (+)NCBI Archive
HuRef7123,613,242 - 123,758,239 (+)ENTREZGENE
CHM1_17129,185,024 - 129,330,325 (+)NCBI
T2T-CHM13v2.07130,924,847 - 131,070,183 (+)NCBI
CRA_TCAGchr7v27128,635,837 - 128,781,204 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_005002   ⟸   NM_005011
- Peptide Label: isoform 1
- UniProtKB: Q15305 (UniProtKB/Swiss-Prot),   B4DDV6 (UniProtKB/Swiss-Prot),   A8K4C6 (UniProtKB/Swiss-Prot),   Q96AN2 (UniProtKB/Swiss-Prot),   Q16656 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035199   ⟸   NM_001040110
- Peptide Label: isoform 1
- UniProtKB: Q15305 (UniProtKB/Swiss-Prot),   B4DDV6 (UniProtKB/Swiss-Prot),   A8K4C6 (UniProtKB/Swiss-Prot),   Q96AN2 (UniProtKB/Swiss-Prot),   Q16656 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280092   ⟸   NM_001293163
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001280093   ⟸   NM_001293164
- Peptide Label: isoform 3
- UniProtKB: Q16656 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394877   ⟸   ENST00000454688
RefSeq Acc Id: ENSP00000309826   ⟸   ENST00000311967
RefSeq Acc Id: ENSP00000342351   ⟸   ENST00000353868
RefSeq Acc Id: ENSP00000376922   ⟸   ENST00000393230
RefSeq Acc Id: ENSP00000376924   ⟸   ENST00000393232
RefSeq Acc Id: ENSP00000223190   ⟸   ENST00000223190
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16656-F1-model_v2 AlphaFold Q16656 1-503 view protein structure

Promoters
RGD ID:6805527
Promoter ID:HG_KWN:59664
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000223190,   ENST00000353868,   ENST00000393231,   NM_005011,   OTTHUMT00000289814,   OTTHUMT00000289815,   UC003VPA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367129,038,556 - 129,039,056 (+)MPROMDB
RGD ID:7211907
Promoter ID:EPDNEW_H11699
Type:initiation region
Name:NRF1_1
Description:nuclear respiratory factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,611,739 - 129,611,799EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7996 AgrOrtholog
COSMIC NRF1 COSMIC
Ensembl Genes ENSG00000106459 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000223190.8 UniProtKB/Swiss-Prot
  ENST00000311967 ENTREZGENE
  ENST00000311967.6 UniProtKB/Swiss-Prot
  ENST00000353868.5 UniProtKB/Swiss-Prot
  ENST00000393230 ENTREZGENE
  ENST00000393230.6 UniProtKB/Swiss-Prot
  ENST00000393232 ENTREZGENE
  ENST00000393232.6 UniProtKB/Swiss-Prot
  ENST00000454688.5 UniProtKB/TrEMBL
GTEx ENSG00000106459 GTEx
HGNC ID HGNC:7996 ENTREZGENE
Human Proteome Map NRF1 Human Proteome Map
InterPro NRF1/Ewg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrf1_NLS/DNA-bd_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4899 UniProtKB/Swiss-Prot
NCBI Gene 4899 ENTREZGENE
OMIM 600879 OMIM
PANTHER NUCLEAR RESPIRATORY FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nrf1_DNA-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31775 PharmGKB
UniProt A8K4C6 ENTREZGENE
  B4DDV6 ENTREZGENE
  C9JP85_HUMAN UniProtKB/TrEMBL
  NRF1_HUMAN UniProtKB/Swiss-Prot
  Q15305 ENTREZGENE
  Q16656 ENTREZGENE
  Q96AN2 ENTREZGENE
UniProt Secondary A8K4C6 UniProtKB/Swiss-Prot
  B4DDV6 UniProtKB/Swiss-Prot
  Q15305 UniProtKB/Swiss-Prot
  Q96AN2 UniProtKB/Swiss-Prot