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NDUFAB1 (NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1 (8kD, SDAP)
NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa
Alias_symbol (synonym)SDAP
FASN2A
ACP
Other alias
HGNC (Hugo) NDUFAB1
LocusID (NCBI) 4706
Atlas_Id 70764
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 23592335 and ends at 23607639 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NDUFAB1 (16p12.2) / ROMO1 (20q11.22)

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)NDUFAB1   7694
Cards
Entrez_Gene (NCBI)NDUFAB1  4706  NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa
AliasesACP; FASN2A; SDAP
GeneCards (Weizmann)NDUFAB1
Ensembl hg19 (Hinxton)ENSG00000004779 [Gene_View]  chr16:23592335-23607639 [Contig_View]  NDUFAB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000004779 [Gene_View]  chr16:23592335-23607639 [Contig_View]  NDUFAB1 [Vega]
ICGC DataPortalENSG00000004779
TCGA cBioPortalNDUFAB1
AceView (NCBI)NDUFAB1
Genatlas (Paris)NDUFAB1
WikiGenes4706
SOURCE (Princeton)NDUFAB1
Genetics Home Reference (NIH)NDUFAB1
Genomic and cartography
GoldenPath hg19 (UCSC)NDUFAB1  -     chr16:23592335-23607639 -  16p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDUFAB1  -     16p12.2   [Description]    (hg38-Dec_2013)
EnsemblNDUFAB1 - 16p12.2 [CytoView hg19]  NDUFAB1 - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBINDUFAB1 [Mapview hg19]  NDUFAB1 [Mapview hg38]
OMIM603836   
Gene and transcription
Genbank (Entrez)AF087660 AK311877 BC058920 BI603093 EF036489
RefSeq transcript (Entrez)NM_005003
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)NDUFAB1
Cluster EST : UnigeneHs.189716 [ NCBI ]
CGAP (NCI)Hs.189716
Alternative Splicing GalleryENSG00000004779
Gene ExpressionNDUFAB1 [ NCBI-GEO ]   NDUFAB1 [ EBI - ARRAY_EXPRESS ]   NDUFAB1 [ SEEK ]   NDUFAB1 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4706
GTEX Portal (Tissue expression)NDUFAB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14561   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14561  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14561
Splice isoforms : SwissVarO14561
PhosPhoSitePlusO14561
Domaine pattern : Prosite (Expaxy)ACP_DOMAIN (PS50075)    PHOSPHOPANTETHEINE (PS00012)   
Domains : Interpro (EBI)Acyl_carrier    Acyl_carrier_prot-like    Ppantetheine_attach_site   
Domain families : Pfam (Sanger)PP-binding (PF00550)   
Domain families : Pfam (NCBI)pfam00550   
Domain structure : Prodom (Prabi Lyon)PD000887 (PD000887)   
Conserved Domain (NCBI)NDUFAB1
DMDM Disease mutations4706
Blocks (Seattle)NDUFAB1
PDB (SRS)2DNW   
PDB (PDBSum)2DNW   
PDB (IMB)2DNW   
PDB (RSDB)2DNW   
Structural Biology KnowledgeBase2DNW   
SCOP (Structural Classification of Proteins)2DNW   
CATH (Classification of proteins structures)2DNW   
SuperfamilyO14561
Human Protein AtlasENSG00000004779
Peptide AtlasO14561
HPRD11951
IPIIPI00022442   
Protein Interaction databases
DIP (DOE-UCLA)O14561
IntAct (EBI)O14561
FunCoupENSG00000004779
BioGRIDNDUFAB1
STRING (EMBL)NDUFAB1
ZODIACNDUFAB1
Ontologies - Pathways
QuickGOO14561
Ontology : AmiGOACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process  fatty acid binding  calcium ion binding  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  fatty acid biosynthetic process  NADH dehydrogenase (ubiquinone) activity  protein lipoylation  respiratory electron transport chain  mitochondrial membrane  mitochondrial membrane  cellular metabolic process  small molecule metabolic process  
Ontology : EGO-EBIACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process  fatty acid binding  calcium ion binding  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  fatty acid biosynthetic process  NADH dehydrogenase (ubiquinone) activity  protein lipoylation  respiratory electron transport chain  mitochondrial membrane  mitochondrial membrane  cellular metabolic process  small molecule metabolic process  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFAB1
Atlas of Cancer Signalling NetworkNDUFAB1
Wikipedia pathwaysNDUFAB1
Orthology - Evolution
OrthoDB4706
GeneTree (enSembl)ENSG00000004779
Phylogenetic Trees/Animal Genes : TreeFamNDUFAB1
HOVERGENO14561
HOGENOMO14561
Homologs : HomoloGeneNDUFAB1
Homology/Alignments : Family Browser (UCSC)NDUFAB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAB1
dbVarNDUFAB1
ClinVarNDUFAB1
1000_GenomesNDUFAB1 
Exome Variant ServerNDUFAB1
ExAC (Exome Aggregation Consortium)NDUFAB1 (select the gene name)
Genetic variants : HAPMAP4706
Genomic Variants (DGV)NDUFAB1 [DGVbeta]
DECIPHER (Syndromes)16:23592335-23607639  ENSG00000004779
CONAN: Copy Number AnalysisNDUFAB1 
Mutations
ICGC Data PortalNDUFAB1 
TCGA Data PortalNDUFAB1 
Broad Tumor PortalNDUFAB1
OASIS PortalNDUFAB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFAB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFAB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NDUFAB1
DgiDB (Drug Gene Interaction Database)NDUFAB1
DoCM (Curated mutations)NDUFAB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAB1 (select a term)
intoGenNDUFAB1
Cancer3DNDUFAB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603836   
Orphanet
MedgenNDUFAB1
Genetic Testing Registry NDUFAB1
NextProtO14561 [Medical]
TSGene4706
GENETestsNDUFAB1
Huge Navigator NDUFAB1 [HugePedia]
snp3D : Map Gene to Disease4706
BioCentury BCIQNDUFAB1
ClinGenNDUFAB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4706
Chemical/Pharm GKB GenePA31500
Clinical trialNDUFAB1
Miscellaneous
canSAR (ICR)NDUFAB1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAB1
EVEXNDUFAB1
GoPubMedNDUFAB1
iHOPNDUFAB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:34:42 CET 2017

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