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NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)

Identity

Alias_namesLCA9
nicotinamide nucleotide adenylyltransferase
Leber congenital amaurosis 9
Leber's congenital amaurosis 9
Alias_symbol (synonym)NMNAT
PNAT1
Other alias
HGNC (Hugo) NMNAT1
LocusID (NCBI) 64802
Atlas_Id 53628
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 9942923 and ends at 9985498 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NMNAT1 (1p36.22) / RABL2B (22q13.33)SMA4 (5q13.2) / NMNAT1 (1p36.22)TPM1 (15q22.2) / NMNAT1 (1p36.22)
UBE4B (1p36.22) / NMNAT1 (1p36.22)UBE4B 1p36.22 / NMNAT1 1p36.22

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)NMNAT1   17877
Cards
Entrez_Gene (NCBI)NMNAT1  64802  nicotinamide nucleotide adenylyltransferase 1
AliasesLCA9; NMNAT; PNAT1
GeneCards (Weizmann)NMNAT1
Ensembl hg19 (Hinxton)ENSG00000173614 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173614 [Gene_View]  chr1:9942923-9985498 [Contig_View]  NMNAT1 [Vega]
ICGC DataPortalENSG00000173614
TCGA cBioPortalNMNAT1
AceView (NCBI)NMNAT1
Genatlas (Paris)NMNAT1
WikiGenes64802
SOURCE (Princeton)NMNAT1
Genetics Home Reference (NIH)NMNAT1
Genomic and cartography
GoldenPath hg38 (UCSC)NMNAT1  -     chr1:9942923-9985498 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NMNAT1  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblNMNAT1 - 1p36.22 [CytoView hg19]  NMNAT1 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBINMNAT1 [Mapview hg19]  NMNAT1 [Mapview hg38]
OMIM608553   608700   
Gene and transcription
Genbank (Entrez)AF088049 AF312734 AF314163 AF459819 AI247931
RefSeq transcript (Entrez)NM_001297778 NM_001297779 NM_022787
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NMNAT1
Cluster EST : UnigeneHs.633762 [ NCBI ]
CGAP (NCI)Hs.633762
Alternative Splicing GalleryENSG00000173614
Gene ExpressionNMNAT1 [ NCBI-GEO ]   NMNAT1 [ EBI - ARRAY_EXPRESS ]   NMNAT1 [ SEEK ]   NMNAT1 [ MEM ]
Gene Expression Viewer (FireBrowse)NMNAT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64802
GTEX Portal (Tissue expression)NMNAT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HAN9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HAN9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HAN9
Splice isoforms : SwissVarQ9HAN9
Catalytic activity : Enzyme2.7.7.1 [ Enzyme-Expasy ]   2.7.7.12.7.7.1 [ IntEnz-EBI ]   2.7.7.1 [ BRENDA ]   2.7.7.1 [ KEGG ]   
PhosPhoSitePlusQ9HAN9
Domains : Interpro (EBI)Cyt_trans-like    NadD/NMNAT    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)CTP_transf_like (PF01467)   
Domain families : Pfam (NCBI)pfam01467   
Conserved Domain (NCBI)NMNAT1
DMDM Disease mutations64802
Blocks (Seattle)NMNAT1
PDB (SRS)1GZU    1KKU    1KQN    1KQO    1KR2   
PDB (PDBSum)1GZU    1KKU    1KQN    1KQO    1KR2   
PDB (IMB)1GZU    1KKU    1KQN    1KQO    1KR2   
PDB (RSDB)1GZU    1KKU    1KQN    1KQO    1KR2   
Structural Biology KnowledgeBase1GZU    1KKU    1KQN    1KQO    1KR2   
SCOP (Structural Classification of Proteins)1GZU    1KKU    1KQN    1KQO    1KR2   
CATH (Classification of proteins structures)1GZU    1KKU    1KQN    1KQO    1KR2   
SuperfamilyQ9HAN9
Human Protein AtlasENSG00000173614
Peptide AtlasQ9HAN9
HPRD16369
IPIIPI00009726   IPI00515090   
Protein Interaction databases
DIP (DOE-UCLA)Q9HAN9
IntAct (EBI)Q9HAN9
FunCoupENSG00000173614
BioGRIDNMNAT1
STRING (EMBL)NMNAT1
ZODIACNMNAT1
Ontologies - Pathways
QuickGOQ9HAN9
Ontology : AmiGOnicotinamide-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  NAD biosynthetic process  response to wounding  nuclear body  NAD metabolic process  'de novo' NAD biosynthetic process from aspartate  identical protein binding  ATP generation from poly-ADP-D-ribose  
Ontology : EGO-EBInicotinamide-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  nicotinate-nucleotide adenylyltransferase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  NAD biosynthetic process  response to wounding  nuclear body  NAD metabolic process  'de novo' NAD biosynthetic process from aspartate  identical protein binding  ATP generation from poly-ADP-D-ribose  
Pathways : KEGGNicotinate and nicotinamide metabolism   
NDEx NetworkNMNAT1
Atlas of Cancer Signalling NetworkNMNAT1
Wikipedia pathwaysNMNAT1
Orthology - Evolution
OrthoDB64802
GeneTree (enSembl)ENSG00000173614
Phylogenetic Trees/Animal Genes : TreeFamNMNAT1
HOVERGENQ9HAN9
HOGENOMQ9HAN9
Homologs : HomoloGeneNMNAT1
Homology/Alignments : Family Browser (UCSC)NMNAT1
Gene fusions - Rearrangements
Fusion : MitelmanUBE4B/NMNAT1 [1p36.22/1p36.22]  [t(1;1)(p36;p36)]  
Fusion: TCGAUBE4B 1p36.22 NMNAT1 1p36.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNMNAT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NMNAT1
dbVarNMNAT1
ClinVarNMNAT1
1000_GenomesNMNAT1 
Exome Variant ServerNMNAT1
ExAC (Exome Aggregation Consortium)NMNAT1 (select the gene name)
Genetic variants : HAPMAP64802
Genomic Variants (DGV)NMNAT1 [DGVbeta]
DECIPHERNMNAT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNMNAT1 
Mutations
ICGC Data PortalNMNAT1 
TCGA Data PortalNMNAT1 
Broad Tumor PortalNMNAT1
OASIS PortalNMNAT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNMNAT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNMNAT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NMNAT1
DgiDB (Drug Gene Interaction Database)NMNAT1
DoCM (Curated mutations)NMNAT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NMNAT1 (select a term)
intoGenNMNAT1
Cancer3DNMNAT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608553    608700   
Orphanet3243   
MedgenNMNAT1
Genetic Testing Registry NMNAT1
NextProtQ9HAN9 [Medical]
TSGene64802
GENETestsNMNAT1
Huge Navigator NMNAT1 [HugePedia]
snp3D : Map Gene to Disease64802
BioCentury BCIQNMNAT1
ClinGenNMNAT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64802
Chemical/Pharm GKB GenePA31660
Clinical trialNMNAT1
Miscellaneous
canSAR (ICR)NMNAT1 (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNMNAT1
EVEXNMNAT1
GoPubMedNMNAT1
iHOPNMNAT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:28:50 CEST 2017

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