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NNT (nicotinamide nucleotide transhydrogenase)

Identity

Alias (NCBI)GCCD4
HGNC (Hugo) NNT
LocusID (NCBI) 23530
Atlas_Id 54504
Location 5p12  [Link to chromosome band 5p12]
Location_base_pair Starts at 43603180 and ends at 43707396 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)
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

 



External links

 

Nomenclature
HGNC (Hugo)NNT   7863
Cards
Entrez_Gene (NCBI)NNT    nicotinamide nucleotide transhydrogenase
AliasesGCCD4
GeneCards (Weizmann)NNT
Ensembl hg19 (Hinxton)ENSG00000112992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112992 [Gene_View]  ENSG00000112992 [Sequence]  chr5:43603180-43707396 [Contig_View]  NNT [Vega]
ICGC DataPortalENSG00000112992
TCGA cBioPortalNNT
AceView (NCBI)NNT
Genatlas (Paris)NNT
SOURCE (Princeton)NNT
Genetics Home Reference (NIH)NNT
Genomic and cartography
GoldenPath hg38 (UCSC)NNT  -     chr5:43603180-43707396 +  5p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NNT  -     5p12   [Description]    (hg19-Feb_2009)
GoldenPathNNT - 5p12 [CytoView hg19]  NNT - 5p12 [CytoView hg38]
ImmunoBaseENSG00000112992
Genome Data Viewer NCBINNT [Mapview hg19]  
OMIM607878   614736   
Gene and transcription
Genbank (Entrez)AK297558 AK299622 AL831822 AW771969 BC032370
RefSeq transcript (Entrez)NM_001331026 NM_012343 NM_182977
Consensus coding sequences : CCDS (NCBI)NNT
Gene ExpressionNNT [ NCBI-GEO ]   NNT [ EBI - ARRAY_EXPRESS ]   NNT [ SEEK ]   NNT [ MEM ]
Gene Expression Viewer (FireBrowse)NNT [ Firebrowse - Broad ]
GenevisibleExpression of NNT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23530
GTEX Portal (Tissue expression)NNT
Human Protein AtlasENSG00000112992-NNT [pathology]   [cell]   [tissue]
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
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_sf    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
PDB (RSDB)1DJL    1PT9    1U31   
PDB Europe1DJL    1PT9    1U31   
PDB (PDBSum)1DJL    1PT9    1U31   
PDB (IMB)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
AlphaFold pdb e-kbQ13423   
Human Protein Atlas [tissue]ENSG00000112992-NNT [tissue]
HPRD09715
Protein Interaction databases
DIP (DOE-UCLA)Q13423
IntAct (EBI)Q13423
BioGRIDNNT
STRING (EMBL)NNT
ZODIACNNT
Ontologies - Pathways
QuickGOQ13423
Ontology : AmiGOnegative regulation of protein phosphorylation  NAD(P)+ transhydrogenase (B-specific) activity  mitochondrion  mitochondrial inner membrane  mitochondrial respirasome  tricarboxylic acid cycle  NADPH regeneration  NAD(P)+ transhydrogenase activity  positive regulation of mitochondrial membrane potential  membrane  integral component of membrane  oxygen homeostasis  response to vitamin  negative regulation of apoptotic process  cell redox homeostasis  NADP binding  NADP binding  NAD binding  NAD binding  reactive oxygen species metabolic process  cellular oxidant detoxification  proton transmembrane transport  positive regulation of hydrogen peroxide catabolic process  
Ontology : EGO-EBInegative regulation of protein phosphorylation  NAD(P)+ transhydrogenase (B-specific) activity  mitochondrion  mitochondrial inner membrane  mitochondrial respirasome  tricarboxylic acid cycle  NADPH regeneration  NAD(P)+ transhydrogenase activity  positive regulation of mitochondrial membrane potential  membrane  integral component of membrane  oxygen homeostasis  response to vitamin  negative regulation of apoptotic process  cell redox homeostasis  NADP binding  NADP binding  NAD binding  NAD binding  reactive oxygen species metabolic process  cellular oxidant detoxification  proton transmembrane transport  positive regulation of hydrogen peroxide catabolic process  
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
Homologs : HomoloGeneNNT
Homology/Alignments : Family Browser (UCSC)NNT
Gene fusions - Rearrangements
Fusion : MitelmanNNT::AMIGO2 [5p12/12q13.11]  
Fusion : QuiverNNT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNNT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NNT
dbVarNNT
ClinVarNNT
MonarchNNT
1000_GenomesNNT 
Exome Variant ServerNNT
GNOMAD BrowserENSG00000112992
Varsome BrowserNNT
ACMGNNT variants
VarityQ13423
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]  
Somatic Mutations in Cancer : COSMIC3DNNT
Mutations and Diseases : HGMDNNT
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNNT
DgiDB (Drug Gene Interaction Database)NNT
DoCM (Curated mutations)NNT
CIViC (Clinical Interpretations of Variants in Cancer)NNT
Cancer3DNNT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607878    614736   
Orphanet3506   
DisGeNETNNT
MedgenNNT
Genetic Testing Registry NNT
NextProtQ13423 [Medical]
GENETestsNNT
Target ValidationNNT
Huge Navigator NNT [HugePedia]
ClinGenNNT
Clinical trials, drugs, therapy
MyCancerGenomeNNT
Protein Interactions : CTDNNT
Pharm GKB GenePA31667
PharosQ13423
Clinical trialNNT
Miscellaneous
canSAR (ICR)NNT
HarmonizomeNNT
ARCHS4NNT
DataMed IndexNNT
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNNT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:25:01 CET 2022

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