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NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
Alias_symbol (synonym)CI-51K
Other aliasCI51KD
UQOR1
HGNC (Hugo) NDUFV1
LocusID (NCBI) 4723
Atlas_Id 70787
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67606852 and ends at 67612541 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)
CAPN5 (11q13.5) / NDUFV1 (11q13.2)COPB2 (3q23) / NDUFV1 (11q13.2)ICA1L (2q33.2) / NDUFV1 (11q13.2)
NDUFV1 (11q13.2) / NDUFV1 (11q13.2)NDUFV1 (11q13.2) / YEATS2 (3q27.1)SNHG6 (8q13.1) / NDUFV1 (11q13.2)

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)NDUFV1   7716
Cards
Entrez_Gene (NCBI)NDUFV1  4723  NADH:ubiquinone oxidoreductase core subunit V1
AliasesCI-51K; CI51KD; UQOR1
GeneCards (Weizmann)NDUFV1
Ensembl hg19 (Hinxton)ENSG00000167792 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167792 [Gene_View]  chr11:67606852-67612541 [Contig_View]  NDUFV1 [Vega]
ICGC DataPortalENSG00000167792
TCGA cBioPortalNDUFV1
AceView (NCBI)NDUFV1
Genatlas (Paris)NDUFV1
WikiGenes4723
SOURCE (Princeton)NDUFV1
Genetics Home Reference (NIH)NDUFV1
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFV1  -     chr11:67606852-67612541 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFV1  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblNDUFV1 - 11q13.2 [CytoView hg19]  NDUFV1 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBINDUFV1 [Mapview hg19]  NDUFV1 [Mapview hg38]
OMIM161015   252010   
Gene and transcription
Genbank (Entrez)AF053070 AF092131 AK055875 AK223061 AK293522
RefSeq transcript (Entrez)NM_001166102 NM_007103
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFV1
Cluster EST : UnigeneHs.7744 [ NCBI ]
CGAP (NCI)Hs.7744
Alternative Splicing GalleryENSG00000167792
Gene ExpressionNDUFV1 [ NCBI-GEO ]   NDUFV1 [ EBI - ARRAY_EXPRESS ]   NDUFV1 [ SEEK ]   NDUFV1 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFV1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4723
GTEX Portal (Tissue expression)NDUFV1
Human Protein AtlasENSG00000167792-NDUFV1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49821   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49821  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49821
Splice isoforms : SwissVarP49821
Catalytic activity : Enzyme1.6.5.3 [ Enzyme-Expasy ]   1.6.5.31.6.5.3 [ IntEnz-EBI ]   1.6.5.3 [ BRENDA ]   1.6.5.3 [ KEGG ]   
PhosPhoSitePlusP49821
Domaine pattern : Prosite (Expaxy)COMPLEX1_51K_1 (PS00644)    COMPLEX1_51K_2 (PS00645)   
Domains : Interpro (EBI)NADH-UbQ_OxRdtase_51kDa_CS    NADH-UbQ_OxRdtase_suF    Nuo51_FMN-bd    Nuop51_4Fe4S-bd    Soluble_ligand-bd   
Domain families : Pfam (Sanger)Complex1_51K (PF01512)    NADH_4Fe-4S (PF10589)    SLBB (PF10531)   
Domain families : Pfam (NCBI)pfam01512    pfam10589    pfam10531   
Domain families : Smart (EMBL)NADH_4Fe-4S (SM00928)  
Conserved Domain (NCBI)NDUFV1
DMDM Disease mutations4723
Blocks (Seattle)NDUFV1
SuperfamilyP49821
Human Protein Atlas [tissue]ENSG00000167792-NDUFV1 [tissue]
Peptide AtlasP49821
HPRD01191
IPIIPI00028520   IPI00978187   IPI00910368   IPI00978728   IPI00980092   IPI00985063   IPI00221298   IPI00976352   IPI00981093   IPI00984551   IPI00979599   IPI00981946   IPI00980636   IPI00982443   IPI00981762   
Protein Interaction databases
DIP (DOE-UCLA)P49821
IntAct (EBI)P49821
FunCoupENSG00000167792
BioGRIDNDUFV1
STRING (EMBL)NDUFV1
ZODIACNDUFV1
Ontologies - Pathways
QuickGOP49821
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  FMN binding  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  metal ion binding  NAD binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  FMN binding  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  metal ion binding  NAD binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFV1
Atlas of Cancer Signalling NetworkNDUFV1
Wikipedia pathwaysNDUFV1
Orthology - Evolution
OrthoDB4723
GeneTree (enSembl)ENSG00000167792
Phylogenetic Trees/Animal Genes : TreeFamNDUFV1
HOVERGENP49821
HOGENOMP49821
Homologs : HomoloGeneNDUFV1
Homology/Alignments : Family Browser (UCSC)NDUFV1
Gene fusions - Rearrangements
Tumor Fusion PortalNDUFV1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFV1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFV1
dbVarNDUFV1
ClinVarNDUFV1
1000_GenomesNDUFV1 
Exome Variant ServerNDUFV1
ExAC (Exome Aggregation Consortium)ENSG00000167792
GNOMAD BrowserENSG00000167792
Genetic variants : HAPMAP4723
Genomic Variants (DGV)NDUFV1 [DGVbeta]
DECIPHERNDUFV1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFV1 
Mutations
ICGC Data PortalNDUFV1 
TCGA Data PortalNDUFV1 
Broad Tumor PortalNDUFV1
OASIS PortalNDUFV1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFV1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFV1
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 NDUFV1
DgiDB (Drug Gene Interaction Database)NDUFV1
DoCM (Curated mutations)NDUFV1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFV1 (select a term)
intoGenNDUFV1
Cancer3DNDUFV1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM161015    252010   
Orphanet369    19814   
DisGeNETNDUFV1
MedgenNDUFV1
Genetic Testing Registry NDUFV1
NextProtP49821 [Medical]
TSGene4723
GENETestsNDUFV1
Target ValidationNDUFV1
Huge Navigator NDUFV1 [HugePedia]
snp3D : Map Gene to Disease4723
BioCentury BCIQNDUFV1
ClinGenNDUFV1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4723
Chemical/Pharm GKB GenePA31526
Clinical trialNDUFV1
Miscellaneous
canSAR (ICR)NDUFV1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFV1
EVEXNDUFV1
GoPubMedNDUFV1
iHOPNDUFV1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:24:15 CET 2017

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