Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias_symbol (synonym)RIS1
RIP1
UQCR5
RISP
Other alias
HGNC (Hugo) UQCRFS1
LocusID (NCBI) 7386
Atlas_Id 45816
Location 19q12  [Link to chromosome band 19q12]
Location_base_pair Starts at 29207260 and ends at 29213229 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
UQCRFS1 (19q12) / ANXA3 (4q21.21)UQCRFS1 (19q12) / CEP350 (1q25.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)UQCRFS1   12587
Cards
Entrez_Gene (NCBI)UQCRFS1  7386  ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
AliasesRIP1; RIS1; RISP; UQCR5
GeneCards (Weizmann)UQCRFS1
Ensembl hg19 (Hinxton)ENSG00000169021 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169021 [Gene_View]  chr19:29207260-29213229 [Contig_View]  UQCRFS1 [Vega]
ICGC DataPortalENSG00000169021
TCGA cBioPortalUQCRFS1
AceView (NCBI)UQCRFS1
Genatlas (Paris)UQCRFS1
WikiGenes7386
SOURCE (Princeton)UQCRFS1
Genetics Home Reference (NIH)UQCRFS1
Genomic and cartography
GoldenPath hg38 (UCSC)UQCRFS1  -     chr19:29207260-29213229 -  19q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UQCRFS1  -     19q12   [Description]    (hg19-Feb_2009)
EnsemblUQCRFS1 - 19q12 [CytoView hg19]  UQCRFS1 - 19q12 [CytoView hg38]
Mapping of homologs : NCBIUQCRFS1 [Mapview hg19]  UQCRFS1 [Mapview hg38]
OMIM191327   
Gene and transcription
Genbank (Entrez)AK000225 AK291134 BC000649 BC010035 BC067832
RefSeq transcript (Entrez)NM_006003
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UQCRFS1
Cluster EST : UnigeneHs.743307 [ NCBI ]
CGAP (NCI)Hs.743307
Alternative Splicing GalleryENSG00000169021
Gene ExpressionUQCRFS1 [ NCBI-GEO ]   UQCRFS1 [ EBI - ARRAY_EXPRESS ]   UQCRFS1 [ SEEK ]   UQCRFS1 [ MEM ]
Gene Expression Viewer (FireBrowse)UQCRFS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7386
GTEX Portal (Tissue expression)UQCRFS1
Human Protein AtlasENSG00000169021-UQCRFS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47985   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47985  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47985
Splice isoforms : SwissVarP47985
Catalytic activity : Enzyme1.10.2.2 [ Enzyme-Expasy ]   1.10.2.21.10.2.2 [ IntEnz-EBI ]   1.10.2.2 [ BRENDA ]   1.10.2.2 [ KEGG ]   
PhosPhoSitePlusP47985
Domaine pattern : Prosite (Expaxy)RIESKE (PS51296)   
Domains : Interpro (EBI)Globular_prot_asu/bsu    Rieske_2Fe-2S    Rieske_Fe-S_prot    Rieske_Fe-S_prot_C    Ubiqinol_cyt_c_Rdtase_N    Ubiquinol_cyt_c_Rdtase_Fe-S-su    Ubiquinol_cyt_Rdtase_TM   
Domain families : Pfam (Sanger)Rieske (PF00355)    Ubiq-Cytc-red_N (PF09165)    UCR_TM (PF02921)   
Domain families : Pfam (NCBI)pfam00355    pfam09165    pfam02921   
Conserved Domain (NCBI)UQCRFS1
DMDM Disease mutations7386
Blocks (Seattle)UQCRFS1
SuperfamilyP47985
Human Protein Atlas [tissue]ENSG00000169021-UQCRFS1 [tissue]
Peptide AtlasP47985
HPRD01874
IPIIPI00026964   
Protein Interaction databases
DIP (DOE-UCLA)P47985
IntAct (EBI)P47985
FunCoupENSG00000169021
BioGRIDUQCRFS1
STRING (EMBL)UQCRFS1
ZODIACUQCRFS1
Ontologies - Pathways
QuickGOP47985
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex III  mitochondrial electron transport, ubiquinol to cytochrome c  ubiquinol-cytochrome-c reductase activity  response to hormone  protein complex binding  response to drug  myelin sheath  response to antibiotic  metal ion binding  2 iron, 2 sulfur cluster binding  hydrogen ion transmembrane transport  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex III  mitochondrial electron transport, ubiquinol to cytochrome c  ubiquinol-cytochrome-c reductase activity  response to hormone  protein complex binding  response to drug  myelin sheath  response to antibiotic  metal ion binding  2 iron, 2 sulfur cluster binding  hydrogen ion transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkUQCRFS1
Atlas of Cancer Signalling NetworkUQCRFS1
Wikipedia pathwaysUQCRFS1
Orthology - Evolution
OrthoDB7386
GeneTree (enSembl)ENSG00000169021
Phylogenetic Trees/Animal Genes : TreeFamUQCRFS1
HOVERGENP47985
HOGENOMP47985
Homologs : HomoloGeneUQCRFS1
Homology/Alignments : Family Browser (UCSC)UQCRFS1
Gene fusions - Rearrangements
Fusion: Tumor Portal UQCRFS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUQCRFS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UQCRFS1
dbVarUQCRFS1
ClinVarUQCRFS1
1000_GenomesUQCRFS1 
Exome Variant ServerUQCRFS1
ExAC (Exome Aggregation Consortium)ENSG00000169021
GNOMAD BrowserENSG00000169021
Genetic variants : HAPMAP7386
Genomic Variants (DGV)UQCRFS1 [DGVbeta]
DECIPHERUQCRFS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUQCRFS1 
Mutations
ICGC Data PortalUQCRFS1 
TCGA Data PortalUQCRFS1 
Broad Tumor PortalUQCRFS1
OASIS PortalUQCRFS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUQCRFS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUQCRFS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch UQCRFS1
DgiDB (Drug Gene Interaction Database)UQCRFS1
DoCM (Curated mutations)UQCRFS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UQCRFS1 (select a term)
intoGenUQCRFS1
Cancer3DUQCRFS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191327   
Orphanet
MedgenUQCRFS1
Genetic Testing Registry UQCRFS1
NextProtP47985 [Medical]
TSGene7386
GENETestsUQCRFS1
Target ValidationUQCRFS1
Huge Navigator UQCRFS1 [HugePedia]
snp3D : Map Gene to Disease7386
BioCentury BCIQUQCRFS1
ClinGenUQCRFS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7386
Chemical/Pharm GKB GenePA37218
Clinical trialUQCRFS1
Miscellaneous
canSAR (ICR)UQCRFS1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUQCRFS1
EVEXUQCRFS1
GoPubMedUQCRFS1
iHOPUQCRFS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:16:49 CET 2017

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