UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) - Rat Genome Database

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Gene: UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) Homo sapiens
Analyze
Symbol: UQCRFS1
Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
RGD ID: 1350936
HGNC Page HGNC:12587
Description: Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: complex III subunit 5; cytochrome b-c1 complex subunit 5; cytochrome b-c1 complex subunit Rieske, mitochondrial; MC3DN10; Rieske iron-sulfur protein; Rieske protein UQCRFS1; RIP1; RIS1; RISP; ubiquinol-cytochrome c reductase iron-sulfur subunit; UQCR5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: UQCRFS1P1   UQCRFS1P2   UQCRFS1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381929,205,320 - 29,213,151 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1929,205,320 - 29,213,151 (-)EnsemblGRCh38hg38GRCh38
GRCh371929,696,227 - 29,704,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361934,390,007 - 34,395,954 (-)NCBINCBI36Build 36hg18NCBI36
Build 341934,390,006 - 34,395,954NCBI
Celera1926,400,450 - 26,406,405 (-)NCBICelera
Cytogenetic Map19q12NCBI
HuRef1926,215,131 - 26,221,101 (-)NCBIHuRef
CHM1_11929,699,125 - 29,705,094 (-)NCBICHM1_1
T2T-CHM13v2.01931,736,436 - 31,744,253 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-naphthylamine  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
ampicillin  (ISO)
antimycin A  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcium dichloride  (ISO)
choline  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cyclosporin A  (ISO)
daunorubicin  (ISO)
deoxynivalenol  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
folic acid  (ISO)
folpet  (ISO)
gentamycin  (ISO)
hesperetin  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
melittin  (ISO)
metronidazole  (ISO)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nicotine  (EXP)
oxybenzone  (ISO)
paracetamol  (EXP)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylarsine oxide  (ISO)
pirinixic acid  (ISO)
rotenone  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Proteomic identification of the involvement of the mitochondrial rieske protein in epilepsy. Junker H, etal., Epilepsia. 2005 Mar;46(3):339-43.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2158323   PMID:2999105   PMID:7721092   PMID:8088805   PMID:9150947   PMID:12477932   PMID:12821338   PMID:15047214   PMID:15057824   PMID:15489334   PMID:17207965   PMID:18029348  
PMID:18854154   PMID:19064571   PMID:20379614   PMID:20833797   PMID:20877624   PMID:21873635   PMID:21901141   PMID:21988832   PMID:22658674   PMID:22939629   PMID:23168492   PMID:24344204  
PMID:24981860   PMID:25027698   PMID:25609649   PMID:26209609   PMID:26344197   PMID:26496610   PMID:27342126   PMID:27499296   PMID:27684187   PMID:28298427   PMID:28380382   PMID:28673544  
PMID:29509794   PMID:29568061   PMID:30463901   PMID:30575818   PMID:31046837   PMID:31091453   PMID:31527615   PMID:31536960   PMID:31883641   PMID:31950832   PMID:31974161   PMID:31980649  
PMID:32060556   PMID:32628020   PMID:32669538   PMID:32687490   PMID:32877691   PMID:33499712   PMID:33567341   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34591612   PMID:34709727  
PMID:34800366   PMID:34901782   PMID:35235311   PMID:35271311   PMID:35563538   PMID:35918402   PMID:35944360   PMID:36215168   PMID:36538041   PMID:36758106   PMID:37071682   PMID:37120454  
PMID:37616343   PMID:37827155  


Genomics

Comparative Map Data
UQCRFS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381929,205,320 - 29,213,151 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1929,205,320 - 29,213,151 (-)EnsemblGRCh38hg38GRCh38
GRCh371929,696,227 - 29,704,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361934,390,007 - 34,395,954 (-)NCBINCBI36Build 36hg18NCBI36
Build 341934,390,006 - 34,395,954NCBI
Celera1926,400,450 - 26,406,405 (-)NCBICelera
Cytogenetic Map19q12NCBI
HuRef1926,215,131 - 26,221,101 (-)NCBIHuRef
CHM1_11929,699,125 - 29,705,094 (-)NCBICHM1_1
T2T-CHM13v2.01931,736,436 - 31,744,253 (-)NCBIT2T-CHM13v2.0
Uqcrfs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391330,724,295 - 30,729,299 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1330,724,291 - 30,729,345 (-)EnsemblGRCm39 Ensembl
GRCm381330,540,312 - 30,545,316 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1330,540,308 - 30,545,362 (-)EnsemblGRCm38mm10GRCm38
MGSCv371330,632,181 - 30,637,185 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361330,547,777 - 30,552,785 (-)NCBIMGSCv36mm8
Celera1330,754,531 - 30,759,562 (-)NCBICelera
Cytogenetic Map13A3.2NCBI
cM Map1313.23NCBI
Uqcrfs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81734,173,787 - 34,190,952 (+)NCBIGRCr8
mRatBN7.21733,977,908 - 33,982,478 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1733,977,921 - 33,982,479 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1733,816,701 - 33,820,962 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01735,420,584 - 35,424,845 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01733,812,512 - 33,816,773 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01735,677,984 - 35,682,262 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1735,677,984 - 35,682,259 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01736,991,588 - 36,995,866 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41740,429,806 - 40,434,083 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11740,432,755 - 40,436,859 (+)NCBI
Celera1733,517,087 - 33,521,364 (+)NCBICelera
Cytogenetic Map17p12NCBI
LOC102014998
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554688,331,153 - 8,338,628 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554688,331,153 - 8,338,628 (+)NCBIChiLan1.0ChiLan1.0
LOC100974890
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22035,192,052 - 35,197,971 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11937,188,573 - 37,194,492 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01926,139,335 - 26,145,231 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11934,905,765 - 34,911,712 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1934,905,765 - 34,911,712 (-)Ensemblpanpan1.1panPan2
UQCRFS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11122,035,193 - 122,038,032 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1122,035,197 - 122,037,759 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1121,336,791 - 121,339,788 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01122,668,156 - 122,671,153 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1122,668,169 - 122,672,983 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11122,243,598 - 122,246,656 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01121,850,901 - 121,854,019 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01122,914,720 - 122,918,053 (+)NCBIUU_Cfam_GSD_1.0
LOC101959727
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093495,595,723 - 5,600,927 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365706,044,969 - 6,051,046 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100522678
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl639,364,890 - 39,373,872 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1639,366,761 - 39,373,876 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2634,525,752 - 34,530,705 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103234417
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1624,293,640 - 24,298,983 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl624,293,920 - 24,299,043 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660731,814,696 - 1,820,587 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101708594
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247944,430,723 - 4,435,457 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247944,428,339 - 4,435,363 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UQCRFS1
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1 copy number loss See cases [RCV000141953] Chr19:29051888..31967596 [GRCh38]
Chr19:29542795..32458502 [GRCh37]
Chr19:34234635..37150342 [NCBI36]
Chr19:19q12-13.11
likely pathogenic|uncertain significance
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11
uncertain significance
NM_006003.3(UQCRFS1):c.215-1G>C single nucleotide variant Mitochondrial complex 3 deficiency, nuclear type 10 [RCV001003400]|Propionic acidemia [RCV000758256] Chr19:29208159 [GRCh38]
Chr19:29699066 [GRCh37]
Chr19:19q12
pathogenic|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1 copy number loss See cases [RCV000512455] Chr19:28271107..31110233 [GRCh37]
Chr19:19q11-12
likely pathogenic
GRCh37/hg19 19q12(chr19:29083484-31804809)x3 copy number gain not provided [RCV000684093] Chr19:29083484..31804809 [GRCh37]
Chr19:19q12
uncertain significance
GRCh37/hg19 19q12(chr19:29341513-29818674)x1 copy number loss not provided [RCV000684082] Chr19:29341513..29818674 [GRCh37]
Chr19:19q12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) single nucleotide variant Mitochondrial complex 3 deficiency, nuclear type 10 [RCV001003402]|Propionic acidemia [RCV000758562] Chr19:29207763 [GRCh38]
Chr19:29698670 [GRCh37]
Chr19:19q12
pathogenic
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) single nucleotide variant Mitochondrial complex 3 deficiency, nuclear type 10 [RCV001003401]|Propionic acidemia [RCV000758565] Chr19:29213078 [GRCh38]
Chr19:29703985 [GRCh37]
Chr19:19q12
pathogenic
NM_006003.3(UQCRFS1):c.471C>T (p.Ser157=) single nucleotide variant not provided [RCV000972094] Chr19:29207902 [GRCh38]
Chr19:29698809 [GRCh37]
Chr19:19q12
benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q12(chr19:29118589-29791099)x3 copy number gain not provided [RCV001007041] Chr19:29118589..29791099 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.519C>G (p.Pro173=) single nucleotide variant not provided [RCV001531457] Chr19:29207854 [GRCh38]
Chr19:29698761 [GRCh37]
Chr19:19q12
likely benign
NM_006003.3(UQCRFS1):c.314A>G (p.Glu105Gly) single nucleotide variant not specified [RCV004685292] Chr19:29208059 [GRCh38]
Chr19:29698966 [GRCh37]
Chr19:19q12
uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2
pathogenic
NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala) single nucleotide variant Mitochondrial complex 3 deficiency, nuclear type 10 [RCV002245191] Chr19:29213103 [GRCh38]
Chr19:29704010 [GRCh37]
Chr19:19q12
benign
NM_006003.3(UQCRFS1):c.24A>G (p.Ser8=) single nucleotide variant Mitochondrial complex 3 deficiency, nuclear type 10 [RCV002245190] Chr19:29213095 [GRCh38]
Chr19:29704002 [GRCh37]
Chr19:19q12
benign
NM_006003.3(UQCRFS1):c.5T>C (p.Leu2Ser) single nucleotide variant not specified [RCV004131123] Chr19:29213114 [GRCh38]
Chr19:29704021 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.785C>T (p.Thr262Met) single nucleotide variant not specified [RCV004240652] Chr19:29207588 [GRCh38]
Chr19:29698495 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.376G>C (p.Ala126Pro) single nucleotide variant not specified [RCV004128109] Chr19:29207997 [GRCh38]
Chr19:29698904 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.151A>T (p.Ser51Cys) single nucleotide variant not specified [RCV004221076] Chr19:29212968 [GRCh38]
Chr19:29703875 [GRCh37]
Chr19:19q12
likely benign
NM_006003.3(UQCRFS1):c.125T>A (p.Val42Glu) single nucleotide variant not specified [RCV004250742] Chr19:29212994 [GRCh38]
Chr19:29703901 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.37C>G (p.Pro13Ala) single nucleotide variant not specified [RCV004265640] Chr19:29213082 [GRCh38]
Chr19:29703989 [GRCh37]
Chr19:19q12
uncertain significance
NC_000019.9:g.(?_29696226)_(29704059_?)del deletion not specified [RCV003479626] Chr19:29696226..29704059 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.786G>A (p.Thr262=) single nucleotide variant not provided [RCV003425084] Chr19:29207587 [GRCh38]
Chr19:29698494 [GRCh37]
Chr19:19q12
likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2
pathogenic
NM_006003.3(UQCRFS1):c.409G>A (p.Val137Ile) single nucleotide variant not specified [RCV004482266] Chr19:29207964 [GRCh38]
Chr19:29698871 [GRCh37]
Chr19:19q12
likely benign
NM_006003.3(UQCRFS1):c.631G>C (p.Val211Leu) single nucleotide variant not specified [RCV004482267] Chr19:29207742 [GRCh38]
Chr19:29698649 [GRCh37]
Chr19:19q12
uncertain significance
NM_006003.3(UQCRFS1):c.233A>T (p.Tyr78Phe) single nucleotide variant not specified [RCV004482264] Chr19:29208140 [GRCh38]
Chr19:29699047 [GRCh37]
Chr19:19q12
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20550618

Predicted Target Of
Summary Value
Count of predictions:84
Count of miRNA genes:79
Interacting mature miRNAs:80
Transcripts:ENST00000304863
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human

Markers in Region
RH39082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,272,039 - 40,272,206UniSTSGRCh37
GRCh371929,698,367 - 29,698,535UniSTSGRCh37
Build 361934,390,207 - 34,390,375RGDNCBI36
Celera2224,074,105 - 24,074,272UniSTS
Celera1926,400,650 - 26,400,818RGD
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q12UniSTS
HuRef2223,235,051 - 23,235,218UniSTS
HuRef1926,215,331 - 26,215,499UniSTS
GDB:607737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,272,078 - 40,272,190UniSTSGRCh37
GRCh371929,698,383 - 29,698,496UniSTSGRCh37
Build 361934,390,223 - 34,390,336RGDNCBI36
Celera2224,074,144 - 24,074,256UniSTS
Celera1926,400,666 - 26,400,779RGD
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q12UniSTS
HuRef2223,235,090 - 23,235,202UniSTS
HuRef1926,215,347 - 26,215,460UniSTS
PMC196577P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,271,384 - 40,271,806UniSTSGRCh37
Build 362238,601,330 - 38,601,752RGDNCBI36
Celera2224,073,450 - 24,073,872RGD
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q12UniSTS
HuRef2223,234,394 - 23,234,818UniSTS
G13234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,272,166 - 40,272,344UniSTSGRCh37
GRCh371929,698,229 - 29,698,407UniSTSGRCh37
Build 361934,390,069 - 34,390,247RGDNCBI36
Celera2224,074,232 - 24,074,410UniSTS
Celera1926,400,512 - 26,400,690RGD
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q12UniSTS
HuRef2223,235,178 - 23,235,356UniSTS
HuRef1926,215,193 - 26,215,371UniSTS
RH143354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371929,703,970 - 29,704,072UniSTSGRCh37
Build 361934,395,810 - 34,395,912RGDNCBI36
Celera1926,406,239 - 26,406,341RGD
Cytogenetic Map19q12UniSTS
HuRef1926,220,935 - 26,221,037UniSTS


Sequence


Ensembl Acc Id: ENST00000304863   ⟹   ENSP00000306397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,205,320 - 29,213,151 (-)Ensembl
RefSeq Acc Id: NM_006003   ⟹   NP_005994
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,205,320 - 29,213,151 (-)NCBI
GRCh371929,698,167 - 29,704,136 (-)ENTREZGENE
Build 361934,390,007 - 34,395,954 (-)NCBI Archive
HuRef1926,215,131 - 26,221,101 (-)ENTREZGENE
CHM1_11929,699,125 - 29,705,094 (-)NCBI
T2T-CHM13v2.01931,736,436 - 31,744,253 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005994   ⟸   NM_006003
- UniProtKB: Q6NVX5 (UniProtKB/Swiss-Prot),   A8K519 (UniProtKB/Swiss-Prot),   Q9UPH2 (UniProtKB/Swiss-Prot),   P47985 (UniProtKB/Swiss-Prot),   A0A384NPX8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000306397   ⟸   ENST00000304863
Protein Domains
Rieske

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P47985-F1-model_v2 AlphaFold P47985 1-274 view protein structure

Promoters
RGD ID:7239357
Promoter ID:EPDNEW_H25423
Type:initiation region
Name:UQCRFS1_1
Description:ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide1
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
GRCh381929,213,151 - 29,213,211EPDNEW
RGD ID:6796229
Promoter ID:HG_KWN:29492
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006003
Position:
Human AssemblyChrPosition (strand)Source
Build 361934,395,709 - 34,396,209 (-)MPROMDB
RGD ID:6853014
Promoter ID:EP74328
Type:initiation region
Name:HS_UQCRFS1
Description:Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361934,395,883 - 34,395,943EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12587 AgrOrtholog
COSMIC UQCRFS1 COSMIC
Ensembl Genes ENSG00000169021 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304863 ENTREZGENE
  ENST00000304863.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.270 UniProtKB/Swiss-Prot
  2.102.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquinol cytochrome reductase, transmembrane domain UniProtKB/TrEMBL
GTEx ENSG00000169021 GTEx
HGNC ID HGNC:12587 ENTREZGENE
Human Proteome Map UQCRFS1 Human Proteome Map
InterPro bc1_Rieske_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Globular_prot_asu/bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_2Fe-2S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_2Fe-2S_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_Fe-S_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_Fe-S_prot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiqinol_cyt_c_Rdtase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquinol_cyt_c_Rdtase_Fe-S-su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7386 UniProtKB/Swiss-Prot
NCBI Gene 7386 ENTREZGENE
OMIM 191327 OMIM
PANTHER CYTOCHROME B-C1 COMPLEX SUBUNIT RIESKE, MITOCHONDRIAL UniProtKB/TrEMBL
  CYTOCHROME B-C1 COMPLEX SUBUNIT RIESKE, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10134 UniProtKB/Swiss-Prot
Pfam Rieske UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiq-Cytc-red_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCR_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37218 PharmGKB
PRINTS RIESKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIESKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP ISP domain UniProtKB/TrEMBL
  ISP transmembrane anchor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Non-globular alpha+beta subunits of globular proteins UniProtKB/TrEMBL
  SSF50022 UniProtKB/Swiss-Prot
  SSF56568 UniProtKB/Swiss-Prot
UniProt A0A384NPX8 ENTREZGENE, UniProtKB/TrEMBL
  A8K519 ENTREZGENE
  P47985 ENTREZGENE
  Q6NVX5 ENTREZGENE
  Q9UPH2 ENTREZGENE
  UCRI_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K519 UniProtKB/Swiss-Prot
  Q6NVX5 UniProtKB/Swiss-Prot
  Q9UPH2 UniProtKB/Swiss-Prot