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NDUFB5 (NADH:ubiquinone oxidoreductase subunit B5)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa
Alias_symbol (synonym)SGDH
CI-SGDH
MGC12314
Other aliasCISGDH
HGNC (Hugo) NDUFB5
LocusID (NCBI) 4711
Atlas_Id 70776
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 179604787 and ends at 179624500 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC66 (3p14.3) / NDUFB5 (3q26.33)NDUFB5 (3q26.33) / ACTL6A (3q26.33)NDUFB5 (3q26.33) / DGKA (12q13.2)

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)NDUFB5   7700
Cards
Entrez_Gene (NCBI)NDUFB5  4711  NADH:ubiquinone oxidoreductase subunit B5
AliasesCISGDH; SGDH
GeneCards (Weizmann)NDUFB5
Ensembl hg19 (Hinxton)ENSG00000136521 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136521 [Gene_View]  chr3:179604787-179624500 [Contig_View]  NDUFB5 [Vega]
ICGC DataPortalENSG00000136521
TCGA cBioPortalNDUFB5
AceView (NCBI)NDUFB5
Genatlas (Paris)NDUFB5
WikiGenes4711
SOURCE (Princeton)NDUFB5
Genetics Home Reference (NIH)NDUFB5
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFB5  -     chr3:179604787-179624500 +  3q26.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFB5  -     3q26.33   [Description]    (hg19-Feb_2009)
EnsemblNDUFB5 - 3q26.33 [CytoView hg19]  NDUFB5 - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBINDUFB5 [Mapview hg19]  NDUFB5 [Mapview hg38]
OMIM603841   
Gene and transcription
Genbank (Entrez)AF047181 AK055159 AK313822 AW955118 BC005271
RefSeq transcript (Entrez)NM_001199957 NM_001199958 NM_002492
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFB5
Cluster EST : UnigeneHs.730674 [ NCBI ]
CGAP (NCI)Hs.730674
Alternative Splicing GalleryENSG00000136521
Gene ExpressionNDUFB5 [ NCBI-GEO ]   NDUFB5 [ EBI - ARRAY_EXPRESS ]   NDUFB5 [ SEEK ]   NDUFB5 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFB5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4711
GTEX Portal (Tissue expression)NDUFB5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43674   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43674  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43674
Splice isoforms : SwissVarO43674
PhosPhoSitePlusO43674
Domains : Interpro (EBI)NADH_UbQ_OxRdtase_B5_su   
Domain families : Pfam (Sanger)NDUF_B5 (PF09781)   
Domain families : Pfam (NCBI)pfam09781   
Conserved Domain (NCBI)NDUFB5
DMDM Disease mutations4711
Blocks (Seattle)NDUFB5
SuperfamilyO43674
Human Protein AtlasENSG00000136521
Peptide AtlasO43674
HPRD11956
IPIIPI00013459   IPI00043742   IPI00947509   IPI00556190   IPI00945515   IPI00946352   IPI00946451   IPI00947328   IPI00947218   
Protein Interaction databases
DIP (DOE-UCLA)O43674
IntAct (EBI)O43674
FunCoupENSG00000136521
BioGRIDNDUFB5
STRING (EMBL)NDUFB5
ZODIACNDUFB5
Ontologies - Pathways
QuickGOO43674
Ontology : AmiGOnucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  integral component of membrane  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBInucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  integral component of membrane  mitochondrial respiratory chain complex I assembly  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFB5
Atlas of Cancer Signalling NetworkNDUFB5
Wikipedia pathwaysNDUFB5
Orthology - Evolution
OrthoDB4711
GeneTree (enSembl)ENSG00000136521
Phylogenetic Trees/Animal Genes : TreeFamNDUFB5
HOVERGENO43674
HOGENOMO43674
Homologs : HomoloGeneNDUFB5
Homology/Alignments : Family Browser (UCSC)NDUFB5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFB5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFB5
dbVarNDUFB5
ClinVarNDUFB5
1000_GenomesNDUFB5 
Exome Variant ServerNDUFB5
ExAC (Exome Aggregation Consortium)NDUFB5 (select the gene name)
Genetic variants : HAPMAP4711
Genomic Variants (DGV)NDUFB5 [DGVbeta]
DECIPHERNDUFB5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFB5 
Mutations
ICGC Data PortalNDUFB5 
TCGA Data PortalNDUFB5 
Broad Tumor PortalNDUFB5
OASIS PortalNDUFB5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFB5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFB5
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 NDUFB5
DgiDB (Drug Gene Interaction Database)NDUFB5
DoCM (Curated mutations)NDUFB5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFB5 (select a term)
intoGenNDUFB5
Cancer3DNDUFB5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603841   
Orphanet
MedgenNDUFB5
Genetic Testing Registry NDUFB5
NextProtO43674 [Medical]
TSGene4711
GENETestsNDUFB5
Target ValidationNDUFB5
Huge Navigator NDUFB5 [HugePedia]
snp3D : Map Gene to Disease4711
BioCentury BCIQNDUFB5
ClinGenNDUFB5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4711
Chemical/Pharm GKB GenePA31511
Clinical trialNDUFB5
Miscellaneous
canSAR (ICR)NDUFB5 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFB5
EVEXNDUFB5
GoPubMedNDUFB5
iHOPNDUFB5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:32:28 CEST 2017

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