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NNT (nicotinamide nucleotide transhydrogenase)

Identity

Other aliasGCCD4
HGNC (Hugo) NNT
LocusID (NCBI) 23530
Atlas_Id 54504
Location 5p12  [Link to chromosome band 5p12]
Location_base_pair Starts at 43603127 and ends at 43705566 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NNT (5p12) / AC114947.1 ()NNT (5p12) / AMIGO2 (12q13.11)NNT (5p12) / GHR (5p13.1)
NNT (5p12) / PHF21A (11p11.2)NNT 5p12 AC114947.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NNT   7863
Cards
Entrez_Gene (NCBI)NNT  23530  nicotinamide nucleotide transhydrogenase
AliasesGCCD4
GeneCards (Weizmann)NNT
Ensembl hg19 (Hinxton)ENSG00000112992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112992 [Gene_View]  chr5:43603127-43705566 [Contig_View]  NNT [Vega]
ICGC DataPortalENSG00000112992
TCGA cBioPortalNNT
AceView (NCBI)NNT
Genatlas (Paris)NNT
WikiGenes23530
SOURCE (Princeton)NNT
Genetics Home Reference (NIH)NNT
Genomic and cartography
GoldenPath hg38 (UCSC)NNT  -     chr5:43603127-43705566 +  5p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NNT  -     5p12   [Description]    (hg19-Feb_2009)
EnsemblNNT - 5p12 [CytoView hg19]  NNT - 5p12 [CytoView hg38]
Mapping of homologs : NCBINNT [Mapview hg19]  NNT [Mapview hg38]
OMIM607878   614736   
Gene and transcription
Genbank (Entrez)AK297558 AK299622 AL831822 AM392664 AM393615
RefSeq transcript (Entrez)NM_001331026 NM_012343 NM_182977
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NNT
Cluster EST : UnigeneHs.482043 [ NCBI ]
CGAP (NCI)Hs.482043
Alternative Splicing GalleryENSG00000112992
Gene ExpressionNNT [ NCBI-GEO ]   NNT [ EBI - ARRAY_EXPRESS ]   NNT [ SEEK ]   NNT [ MEM ]
Gene Expression Viewer (FireBrowse)NNT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23530
GTEX Portal (Tissue expression)NNT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13423   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13423  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13423
Splice isoforms : SwissVarQ13423
Catalytic activity : Enzyme1.6.1.2 [ Enzyme-Expasy ]   1.6.1.21.6.1.2 [ IntEnz-EBI ]   1.6.1.2 [ BRENDA ]   1.6.1.2 [ KEGG ]   
PhosPhoSitePlusQ13423
Domaine pattern : Prosite (Expaxy)ALADH_PNT_1 (PS00836)    ALADH_PNT_2 (PS00837)   
Domains : Interpro (EBI)Ala_DH/PNT_CS2    AlaDH/PNT_CS1    AlaDH/PNT_N    AlaDH/PNT_NAD(H)-bd    DHS-like_NAD/FAD-binding_dom    NAD(P)-bd_dom    NADP_transhyd_a    NADP_transhyd_a_C    PNTB-like   
Domain families : Pfam (Sanger)AlaDh_PNT_C (PF01262)    AlaDh_PNT_N (PF05222)    PNTB (PF02233)    PNTB_4TM (PF12769)   
Domain families : Pfam (NCBI)pfam01262    pfam05222    pfam02233    pfam12769   
Domain families : Smart (EMBL)AlaDh_PNT_C (SM01002)  AlaDh_PNT_N (SM01003)  
Conserved Domain (NCBI)NNT
DMDM Disease mutations23530
Blocks (Seattle)NNT
PDB (SRS)1DJL    1PT9    1U31   
PDB (PDBSum)1DJL    1PT9    1U31   
PDB (IMB)1DJL    1PT9    1U31   
PDB (RSDB)1DJL    1PT9    1U31   
Structural Biology KnowledgeBase1DJL    1PT9    1U31   
SCOP (Structural Classification of Proteins)1DJL    1PT9    1U31   
CATH (Classification of proteins structures)1DJL    1PT9    1U31   
SuperfamilyQ13423
Human Protein AtlasENSG00000112992
Peptide AtlasQ13423
HPRD09715
IPIIPI00337541   IPI00964130   IPI00963871   IPI00964391   IPI00965837   IPI00965349   IPI00967459   
Protein Interaction databases
DIP (DOE-UCLA)Q13423
IntAct (EBI)Q13423
FunCoupENSG00000112992
BioGRIDNNT
STRING (EMBL)NNT
ZODIACNNT
Ontologies - Pathways
QuickGOQ13423
Ontology : AmiGONAD(P)+ transhydrogenase (B-specific) activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  tricarboxylic acid cycle  NADPH regeneration  NAD(P)+ transhydrogenase activity  NAD(P)+ transhydrogenase (AB-specific) activity  proton transport  membrane  integral component of membrane  NADP binding  NAD binding  oxidation-reduction process  reactive oxygen species metabolic process  hydrogen ion transmembrane transport  
Ontology : EGO-EBINAD(P)+ transhydrogenase (B-specific) activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  tricarboxylic acid cycle  NADPH regeneration  NAD(P)+ transhydrogenase activity  NAD(P)+ transhydrogenase (AB-specific) activity  proton transport  membrane  integral component of membrane  NADP binding  NAD binding  oxidation-reduction process  reactive oxygen species metabolic process  hydrogen ion transmembrane transport  
Pathways : KEGGNicotinate and nicotinamide metabolism   
NDEx NetworkNNT
Atlas of Cancer Signalling NetworkNNT
Wikipedia pathwaysNNT
Orthology - Evolution
OrthoDB23530
GeneTree (enSembl)ENSG00000112992
Phylogenetic Trees/Animal Genes : TreeFamNNT
HOVERGENQ13423
HOGENOMQ13423
Homologs : HomoloGeneNNT
Homology/Alignments : Family Browser (UCSC)NNT
Gene fusions - Rearrangements
Fusion : MitelmanNNT/AMIGO2 [5p12/12q13.11]  
Fusion: TCGANNT 5p12 AC114947.1 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNNT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NNT
dbVarNNT
ClinVarNNT
1000_GenomesNNT 
Exome Variant ServerNNT
ExAC (Exome Aggregation Consortium)NNT (select the gene name)
Genetic variants : HAPMAP23530
Genomic Variants (DGV)NNT [DGVbeta]
DECIPHERNNT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNNT 
Mutations
ICGC Data PortalNNT 
TCGA Data PortalNNT 
Broad Tumor PortalNNT
OASIS PortalNNT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNNT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNNT
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 NNT
DgiDB (Drug Gene Interaction Database)NNT
DoCM (Curated mutations)NNT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NNT (select a term)
intoGenNNT
Cancer3DNNT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607878    614736   
Orphanet3506   
MedgenNNT
Genetic Testing Registry NNT
NextProtQ13423 [Medical]
TSGene23530
GENETestsNNT
Target ValidationNNT
Huge Navigator NNT [HugePedia]
snp3D : Map Gene to Disease23530
BioCentury BCIQNNT
ClinGenNNT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23530
Chemical/Pharm GKB GenePA31667
Clinical trialNNT
Miscellaneous
canSAR (ICR)NNT (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNNT
EVEXNNT
GoPubMedNNT
iHOPNNT
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 : Wed Jun 7 12:47:03 CEST 2017

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