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UQCRC1 (ubiquinol-cytochrome c reductase core protein I)

Identity

Alias_symbol (synonym)D3S3191
QCR1
UQCR1
Other alias
HGNC (Hugo) UQCRC1
LocusID (NCBI) 7384
Atlas_Id 46522
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 48598999 and ends at 48609665 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KIAA0355 (19q13.11) / UQCRC1 (3p21.31)TTN (2q31.2) / UQCRC1 (3p21.31)UQCRC1 (3p21.31) / FNIP2 (4q32.1)
UQCRC1 (3p21.31) / RPL13AP20 (12p13.1)UQCRC1 (3p21.31) / SMARCC1 (3p21.31)UQCRC1 3p21.31 / FNIP2 4q32.1
UQCRC1 3p21.31 / SMARCC1 3p21.31

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)UQCRC1   12585
Cards
Entrez_Gene (NCBI)UQCRC1  7384  ubiquinol-cytochrome c reductase core protein I
AliasesD3S3191; QCR1; UQCR1
GeneCards (Weizmann)UQCRC1
Ensembl hg19 (Hinxton)ENSG00000010256 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000010256 [Gene_View]  chr3:48598999-48609665 [Contig_View]  UQCRC1 [Vega]
ICGC DataPortalENSG00000010256
TCGA cBioPortalUQCRC1
AceView (NCBI)UQCRC1
Genatlas (Paris)UQCRC1
WikiGenes7384
SOURCE (Princeton)UQCRC1
Genetics Home Reference (NIH)UQCRC1
Genomic and cartography
GoldenPath hg38 (UCSC)UQCRC1  -     chr3:48598999-48609665 -  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UQCRC1  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblUQCRC1 - 3p21.31 [CytoView hg19]  UQCRC1 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIUQCRC1 [Mapview hg19]  UQCRC1 [Mapview hg38]
OMIM191328   
Gene and transcription
Genbank (Entrez)AA284910 AK129903 AK300694 AK302840 AK313090
RefSeq transcript (Entrez)NM_003365
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UQCRC1
Cluster EST : UnigeneHs.119251 [ NCBI ]
CGAP (NCI)Hs.119251
Alternative Splicing GalleryENSG00000010256
Gene ExpressionUQCRC1 [ NCBI-GEO ]   UQCRC1 [ EBI - ARRAY_EXPRESS ]   UQCRC1 [ SEEK ]   UQCRC1 [ MEM ]
Gene Expression Viewer (FireBrowse)UQCRC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7384
GTEX Portal (Tissue expression)UQCRC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31930   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31930  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31930
Splice isoforms : SwissVarP31930
PhosPhoSitePlusP31930
Domains : Interpro (EBI)Metalloenz_LuxS/M16    Pept_M16_dom    Pept_M16_N    Peptidase_M16_C   
Domain families : Pfam (Sanger)Peptidase_M16 (PF00675)    Peptidase_M16_C (PF05193)   
Domain families : Pfam (NCBI)pfam00675    pfam05193   
Conserved Domain (NCBI)UQCRC1
DMDM Disease mutations7384
Blocks (Seattle)UQCRC1
SuperfamilyP31930
Human Protein AtlasENSG00000010256
Peptide AtlasP31930
HPRD01875
IPIIPI00013847   IPI00926787   IPI00927812   
Protein Interaction databases
DIP (DOE-UCLA)P31930
IntAct (EBI)P31930
FunCoupENSG00000010256
BioGRIDUQCRC1
STRING (EMBL)UQCRC1
ZODIACUQCRC1
Ontologies - Pathways
QuickGOP31930
Ontology : AmiGOmetalloendopeptidase activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  mitochondrial respiratory chain complex III  cytosol  oxidative phosphorylation  mitochondrial electron transport, ubiquinol to cytochrome c  mitochondrial electron transport, ubiquinol to cytochrome c  ubiquinol-cytochrome-c reductase activity  zinc ion binding  aerobic respiration  response to activity  protein processing  ubiquitin protein ligase binding  protein complex binding  myelin sheath  response to alkaloid  oxidation-reduction process  hydrogen ion transmembrane transport  
Ontology : EGO-EBImetalloendopeptidase activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  mitochondrial respiratory chain complex III  cytosol  oxidative phosphorylation  mitochondrial electron transport, ubiquinol to cytochrome c  mitochondrial electron transport, ubiquinol to cytochrome c  ubiquinol-cytochrome-c reductase activity  zinc ion binding  aerobic respiration  response to activity  protein processing  ubiquitin protein ligase binding  protein complex binding  myelin sheath  response to alkaloid  oxidation-reduction process  hydrogen ion transmembrane transport  
Pathways : BIOCARTAElectron Transport Reaction in Mitochondria [Genes]   
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkUQCRC1
Atlas of Cancer Signalling NetworkUQCRC1
Wikipedia pathwaysUQCRC1
Orthology - Evolution
OrthoDB7384
GeneTree (enSembl)ENSG00000010256
Phylogenetic Trees/Animal Genes : TreeFamUQCRC1
HOVERGENP31930
HOGENOMP31930
Homologs : HomoloGeneUQCRC1
Homology/Alignments : Family Browser (UCSC)UQCRC1
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0355/UQCRC1 [19q13.11/3p21.31]  [t(3;19)(p21;q13)]  
Fusion : MitelmanUQCRC1/FNIP2 [3p21.31/4q32.1]  [t(3;4)(p21;q32)]  
Fusion : MitelmanUQCRC1/SMARCC1 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion: TCGAUQCRC1 3p21.31 FNIP2 4q32.1 PRAD
Fusion: TCGAUQCRC1 3p21.31 SMARCC1 3p21.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUQCRC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UQCRC1
dbVarUQCRC1
ClinVarUQCRC1
1000_GenomesUQCRC1 
Exome Variant ServerUQCRC1
ExAC (Exome Aggregation Consortium)UQCRC1 (select the gene name)
Genetic variants : HAPMAP7384
Genomic Variants (DGV)UQCRC1 [DGVbeta]
DECIPHERUQCRC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUQCRC1 
Mutations
ICGC Data PortalUQCRC1 
TCGA Data PortalUQCRC1 
Broad Tumor PortalUQCRC1
OASIS PortalUQCRC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUQCRC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUQCRC1
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 UQCRC1
DgiDB (Drug Gene Interaction Database)UQCRC1
DoCM (Curated mutations)UQCRC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UQCRC1 (select a term)
intoGenUQCRC1
Cancer3DUQCRC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191328   
Orphanet
MedgenUQCRC1
Genetic Testing Registry UQCRC1
NextProtP31930 [Medical]
TSGene7384
GENETestsUQCRC1
Target ValidationUQCRC1
Huge Navigator UQCRC1 [HugePedia]
snp3D : Map Gene to Disease7384
BioCentury BCIQUQCRC1
ClinGenUQCRC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7384
Chemical/Pharm GKB GenePA37216
Clinical trialUQCRC1
Miscellaneous
canSAR (ICR)UQCRC1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUQCRC1
EVEXUQCRC1
GoPubMedUQCRC1
iHOPUQCRC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:02:04 CEST 2017

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