Atlas of Genetics and Cytogenetics in Oncology and Haematology


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UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1)

Identity

Alias_namesC20orf44
UQCC
chromosome 20 open reading frame 44
ubiquinol-cytochrome c reductase complex chaperone
Alias_symbol (synonym)FLJ10850
CBP3
BFZB
Other alias
HGNC (Hugo) UQCC1
LocusID (NCBI) 55245
Atlas_Id 51333
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35302566 and ends at 35412142 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF12 (11q23.3) / UQCC1 (20q11.22)ATP9A (20q13.2) / UQCC1 (20q11.22)EDEM2 (20q11.22) / UQCC1 (20q11.22)
UQCC1 (20q11.22) / ADAMTS12 (5p13.3)UQCC1 (20q11.22) / CACNA2D4 (12p13.33)UQCC1 (20q11.22) / CD3EAP (19q13.32)
UQCC1 (20q11.22) / GDF5 (20q11.22)UQCC1 (20q11.22) / KIAA1755 (20q11.23)UQCC1 (20q11.22) / LRBA (4q31.3)
UQCC1 (20q11.22) / PHF20 (20q11.22)UQCC1 (20q11.22) / RPN2 (20q11.23)UQCC1 (20q11.22) / SAMHD1 (20q11.23)

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)UQCC1   15891
Cards
Entrez_Gene (NCBI)UQCC1  55245  ubiquinol-cytochrome c reductase complex assembly factor 1
AliasesBFZB; C20orf44; CBP3; UQCC
GeneCards (Weizmann)UQCC1
Ensembl hg19 (Hinxton)ENSG00000101019 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101019 [Gene_View]  chr20:35302566-35412142 [Contig_View]  UQCC1 [Vega]
ICGC DataPortalENSG00000101019
TCGA cBioPortalUQCC1
AceView (NCBI)UQCC1
Genatlas (Paris)UQCC1
WikiGenes55245
SOURCE (Princeton)UQCC1
Genetics Home Reference (NIH)UQCC1
Genomic and cartography
GoldenPath hg38 (UCSC)UQCC1  -     chr20:35302566-35412142 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UQCC1  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblUQCC1 - 20q11.22 [CytoView hg19]  UQCC1 - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBIUQCC1 [Mapview hg19]  UQCC1 [Mapview hg38]
OMIM611797   
Gene and transcription
Genbank (Entrez)AF173893 AK001712 AK022650 AK022742 AK093804
RefSeq transcript (Entrez)NM_001184977 NM_018244 NM_199487 NM_199513
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UQCC1
Cluster EST : UnigeneHs.726290 [ NCBI ]
CGAP (NCI)Hs.726290
Alternative Splicing GalleryENSG00000101019
Gene ExpressionUQCC1 [ NCBI-GEO ]   UQCC1 [ EBI - ARRAY_EXPRESS ]   UQCC1 [ SEEK ]   UQCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)UQCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55245
GTEX Portal (Tissue expression)UQCC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVA1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVA1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVA1
Splice isoforms : SwissVarQ9NVA1
PhosPhoSitePlusQ9NVA1
Domains : Interpro (EBI)Ubiq_cyt_c_chap/UPF0174    Ubiqinol_cyt_c_chaperone_CPB3   
Domain families : Pfam (Sanger)Ubiq_cyt_C_chap (PF03981)   
Domain families : Pfam (NCBI)pfam03981   
Conserved Domain (NCBI)UQCC1
DMDM Disease mutations55245
Blocks (Seattle)UQCC1
SuperfamilyQ9NVA1
Human Protein AtlasENSG00000101019
Peptide AtlasQ9NVA1
HPRD12770
IPIIPI00844050   IPI00219889   IPI00396970   IPI01009393   IPI01009633   IPI00984363   IPI00384914   IPI00385021   IPI00748809   IPI00513896   IPI00514287   IPI00514207   IPI00219890   IPI00556345   IPI00853204   IPI00893084   IPI00892975   IPI00892874   IPI00892612   IPI01012322   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVA1
IntAct (EBI)Q9NVA1
FunCoupENSG00000101019
BioGRIDUQCC1
STRING (EMBL)UQCC1
ZODIACUQCC1
Ontologies - Pathways
QuickGOQ9NVA1
Ontology : AmiGOprotein binding  mitochondrial inner membrane  cytoplasmic vesicle  mitochondrial respiratory chain complex III assembly  positive regulation of mitochondrial translation  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  cytoplasmic vesicle  mitochondrial respiratory chain complex III assembly  positive regulation of mitochondrial translation  
NDEx NetworkUQCC1
Atlas of Cancer Signalling NetworkUQCC1
Wikipedia pathwaysUQCC1
Orthology - Evolution
OrthoDB55245
GeneTree (enSembl)ENSG00000101019
Phylogenetic Trees/Animal Genes : TreeFamUQCC1
HOVERGENQ9NVA1
HOGENOMQ9NVA1
Homologs : HomoloGeneUQCC1
Homology/Alignments : Family Browser (UCSC)UQCC1
Gene fusions - Rearrangements
Fusion : MitelmanEDEM2/UQCC1 [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanUQCC1/ADAMTS12 [20q11.22/5p13.3]  [t(5;20)(p13;q11)]  
Fusion : MitelmanUQCC1/CACNA2D4 [20q11.22/12p13.33]  [t(12;20)(p13;q11)]  
Fusion : MitelmanUQCC1/GDF5 [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanUQCC1/KIAA1755 [20q11.22/20q11.23]  [t(20;20)(q11;q11)]  
Fusion : MitelmanUQCC1/LRBA [20q11.22/4q31.3]  [t(4;20)(q31;q11)]  
Fusion : MitelmanUQCC1/SAMHD1 [20q11.22/20q11.23]  [t(20;20)(q11;q11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUQCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UQCC1
dbVarUQCC1
ClinVarUQCC1
1000_GenomesUQCC1 
Exome Variant ServerUQCC1
ExAC (Exome Aggregation Consortium)UQCC1 (select the gene name)
Genetic variants : HAPMAP55245
Genomic Variants (DGV)UQCC1 [DGVbeta]
DECIPHERUQCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUQCC1 
Mutations
ICGC Data PortalUQCC1 
TCGA Data PortalUQCC1 
Broad Tumor PortalUQCC1
OASIS PortalUQCC1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDUQCC1
BioMutasearch UQCC1
DgiDB (Drug Gene Interaction Database)UQCC1
DoCM (Curated mutations)UQCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UQCC1 (select a term)
intoGenUQCC1
Cancer3DUQCC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611797   
Orphanet
MedgenUQCC1
Genetic Testing Registry UQCC1
NextProtQ9NVA1 [Medical]
TSGene55245
GENETestsUQCC1
Target ValidationUQCC1
Huge Navigator UQCC1 [HugePedia]
snp3D : Map Gene to Disease55245
BioCentury BCIQUQCC1
ClinGenUQCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55245
Chemical/Pharm GKB GenePA162408653
Clinical trialUQCC1
Miscellaneous
canSAR (ICR)UQCC1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUQCC1
EVEXUQCC1
GoPubMedUQCC1
iHOPUQCC1
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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