Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYB5R1 (cytochrome b5 reductase 1)

Identity

Alias_namesNQO3A2
NAD(P)H:quinone oxidoreductase type 3, polypeptide A2
Alias_symbol (synonym)humb5R2
Other aliasB5R.1
B5R1
B5R2
HGNC (Hugo) CYB5R1
LocusID (NCBI) 51706
Atlas_Id 62236
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 202961873 and ends at 202967276 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)
ADIPOR1 (1q32.1) / CYB5R1 (1q32.1)CYB5R1 (1q32.1) / CYB5R1 (1q32.1)EZR (6q25.3) / CYB5R1 (1q32.1)
HCRTR1 (1p35.2) / CYB5R1 (1q32.1)NUAK2 (1q32.1) / CYB5R1 (1q32.1)ADIPOR1 CYB5R1
NUAK2 CYB5R1

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)CYB5R1   13397
Cards
Entrez_Gene (NCBI)CYB5R1  51706  cytochrome b5 reductase 1
AliasesB5R.1; B5R1; B5R2; NQO3A2; 
humb5R2
GeneCards (Weizmann)CYB5R1
Ensembl hg19 (Hinxton)ENSG00000159348 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159348 [Gene_View]  chr1:202961873-202967276 [Contig_View]  CYB5R1 [Vega]
ICGC DataPortalENSG00000159348
TCGA cBioPortalCYB5R1
AceView (NCBI)CYB5R1
Genatlas (Paris)CYB5R1
WikiGenes51706
SOURCE (Princeton)CYB5R1
Genetics Home Reference (NIH)CYB5R1
Genomic and cartography
GoldenPath hg38 (UCSC)CYB5R1  -     chr1:202961873-202967276 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYB5R1  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblCYB5R1 - 1q32.1 [CytoView hg19]  CYB5R1 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBICYB5R1 [Mapview hg19]  CYB5R1 [Mapview hg38]
OMIM608341   
Gene and transcription
Genbank (Entrez)AF087912 AF091084 AF093822 AF125533 AF169481
RefSeq transcript (Entrez)NM_016243
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYB5R1
Cluster EST : UnigeneHs.334832 [ NCBI ]
CGAP (NCI)Hs.334832
Alternative Splicing GalleryENSG00000159348
Gene ExpressionCYB5R1 [ NCBI-GEO ]   CYB5R1 [ EBI - ARRAY_EXPRESS ]   CYB5R1 [ SEEK ]   CYB5R1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51706
GTEX Portal (Tissue expression)CYB5R1
Human Protein AtlasENSG00000159348-CYB5R1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHQ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHQ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHQ9
Splice isoforms : SwissVarQ9UHQ9
Catalytic activity : Enzyme1.6.2.2 [ Enzyme-Expasy ]   1.6.2.21.6.2.2 [ IntEnz-EBI ]   1.6.2.2 [ BRENDA ]   1.6.2.2 [ KEGG ]   
PhosPhoSitePlusQ9UHQ9
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)   
Domains : Interpro (EBI)Fd_Rdtase_FAD-bd    Flavoprot_Pyr_Nucl_cyt_Rdtase    NADH-Cyt_B5_reductase    OxRdtase_FAD-bd_dom    OxRdtase_FAD/NAD-bd    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)FAD_binding_6 (PF00970)    NAD_binding_1 (PF00175)   
Domain families : Pfam (NCBI)pfam00970    pfam00175   
Conserved Domain (NCBI)CYB5R1
DMDM Disease mutations51706
Blocks (Seattle)CYB5R1
SuperfamilyQ9UHQ9
Human Protein Atlas [tissue]ENSG00000159348-CYB5R1 [tissue]
Peptide AtlasQ9UHQ9
HPRD06434
IPIIPI00470674   IPI00643530   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHQ9
IntAct (EBI)Q9UHQ9
FunCoupENSG00000159348
BioGRIDCYB5R1
STRING (EMBL)CYB5R1
ZODIACCYB5R1
Ontologies - Pathways
QuickGOQ9UHQ9
Ontology : AmiGOplatelet degranulation  molecular_function  cytochrome-b5 reductase activity, acting on NAD(P)H  protein binding  mitochondrion  endoplasmic reticulum membrane  plasma membrane  biological_process  bicarbonate transport  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity  platelet alpha granule membrane  oxidation-reduction process  extracellular exosome  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIplatelet degranulation  molecular_function  cytochrome-b5 reductase activity, acting on NAD(P)H  protein binding  mitochondrion  endoplasmic reticulum membrane  plasma membrane  biological_process  bicarbonate transport  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity  platelet alpha granule membrane  oxidation-reduction process  extracellular exosome  positive regulation of protein targeting to mitochondrion  
Pathways : KEGGAmino sugar and nucleotide sugar metabolism   
NDEx NetworkCYB5R1
Atlas of Cancer Signalling NetworkCYB5R1
Wikipedia pathwaysCYB5R1
Orthology - Evolution
OrthoDB51706
GeneTree (enSembl)ENSG00000159348
Phylogenetic Trees/Animal Genes : TreeFamCYB5R1
HOVERGENQ9UHQ9
HOGENOMQ9UHQ9
Homologs : HomoloGeneCYB5R1
Homology/Alignments : Family Browser (UCSC)CYB5R1
Gene fusions - Rearrangements
Fusion: TCGA_MDACCADIPOR1 CYB5R1
Fusion: TCGA_MDACCNUAK2 CYB5R1
Tumor Fusion PortalCYB5R1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5R1
dbVarCYB5R1
ClinVarCYB5R1
1000_GenomesCYB5R1 
Exome Variant ServerCYB5R1
ExAC (Exome Aggregation Consortium)ENSG00000159348
GNOMAD BrowserENSG00000159348
Genetic variants : HAPMAP51706
Genomic Variants (DGV)CYB5R1 [DGVbeta]
DECIPHERCYB5R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYB5R1 
Mutations
ICGC Data PortalCYB5R1 
TCGA Data PortalCYB5R1 
Broad Tumor PortalCYB5R1
OASIS PortalCYB5R1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5R1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5R1
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 CYB5R1
DgiDB (Drug Gene Interaction Database)CYB5R1
DoCM (Curated mutations)CYB5R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5R1 (select a term)
intoGenCYB5R1
Cancer3DCYB5R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608341   
Orphanet
DisGeNETCYB5R1
MedgenCYB5R1
Genetic Testing Registry CYB5R1
NextProtQ9UHQ9 [Medical]
TSGene51706
GENETestsCYB5R1
Target ValidationCYB5R1
Huge Navigator CYB5R1 [HugePedia]
snp3D : Map Gene to Disease51706
BioCentury BCIQCYB5R1
ClinGenCYB5R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51706
Chemical/Pharm GKB GenePA134979668
Clinical trialCYB5R1
Miscellaneous
canSAR (ICR)CYB5R1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5R1
EVEXCYB5R1
GoPubMedCYB5R1
iHOPCYB5R1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 12:59:48 CET 2017

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