Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NAE1 (NEDD8 activating enzyme E1 subunit 1)

Identity

Alias_namesAPPBP1
amyloid beta precursor protein binding protein 1
Alias_symbol (synonym)ula-1
Other aliasA-116A10.1
HPP1
HGNC (Hugo) NAE1
LocusID (NCBI) 8883
Atlas_Id 51436
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 66802878 and ends at 66830976 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)
CBFB (16q22.1) / NAE1 (16q22.1)NAE1 (16q22.1) / ARID1B (6q25.3)NAE1 (16q22.1) / ENO2 (12p13.31)
NAE1 (16q22.1) / NAE1 (16q22.1)

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)NAE1   621
Cards
Entrez_Gene (NCBI)NAE1  8883  NEDD8 activating enzyme E1 subunit 1
AliasesA-116A10.1; APPBP1; HPP1; ula-1
GeneCards (Weizmann)NAE1
Ensembl hg19 (Hinxton)ENSG00000159593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159593 [Gene_View]  ENSG00000159593 [Sequence]  chr16:66802878-66830976 [Contig_View]  NAE1 [Vega]
ICGC DataPortalENSG00000159593
TCGA cBioPortalNAE1
AceView (NCBI)NAE1
Genatlas (Paris)NAE1
WikiGenes8883
SOURCE (Princeton)NAE1
Genetics Home Reference (NIH)NAE1
Genomic and cartography
GoldenPath hg38 (UCSC)NAE1  -     chr16:66802878-66830976 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NAE1  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblNAE1 - 16q22.1 [CytoView hg19]  NAE1 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBINAE1 [Mapview hg19]  NAE1 [Mapview hg38]
OMIM603385   
Gene and transcription
Genbank (Entrez)AK097680 AK298159 AK307677 AK312784 AL136798
RefSeq transcript (Entrez)NM_001018159 NM_001018160 NM_001286500 NM_003905
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NAE1
Cluster EST : UnigeneHs.460978 [ NCBI ]
CGAP (NCI)Hs.460978
Alternative Splicing GalleryENSG00000159593
Gene ExpressionNAE1 [ NCBI-GEO ]   NAE1 [ EBI - ARRAY_EXPRESS ]   NAE1 [ SEEK ]   NAE1 [ MEM ]
Gene Expression Viewer (FireBrowse)NAE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8883
GTEX Portal (Tissue expression)NAE1
Human Protein AtlasENSG00000159593-NAE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13564   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13564  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13564
Splice isoforms : SwissVarQ13564
PhosPhoSitePlusQ13564
Domains : Interpro (EBI)APP-BP1    ThiF_NAD_FAD-bd    Ubiquitin-activating_enz   
Domain families : Pfam (Sanger)ThiF (PF00899)   
Domain families : Pfam (NCBI)pfam00899   
Conserved Domain (NCBI)NAE1
DMDM Disease mutations8883
Blocks (Seattle)NAE1
PDB (SRS)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
PDB (PDBSum)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
PDB (IMB)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
PDB (RSDB)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
Structural Biology KnowledgeBase1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
SCOP (Structural Classification of Proteins)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
CATH (Classification of proteins structures)1R4M    1R4N    1TT5    1YOV    2NVU    3DBH    3DBL    3DBR    3GZN   
SuperfamilyQ13564
Human Protein Atlas [tissue]ENSG00000159593-NAE1 [tissue]
Peptide AtlasQ13564
HPRD04545
IPIIPI00018968   IPI00604676   IPI00604652   IPI00646350   
Protein Interaction databases
DIP (DOE-UCLA)Q13564
IntAct (EBI)Q13564
FunCoupENSG00000159593
BioGRIDNAE1
STRING (EMBL)NAE1
ZODIACNAE1
Ontologies - Pathways
QuickGOQ13564
Ontology : AmiGOprotein binding  cytoplasm  cytosol  plasma membrane  signal transduction  NEDD8 activating enzyme activity  NEDD8 activating enzyme activity  ubiquitin protein ligase binding  mitotic DNA replication checkpoint  regulation of apoptotic process  regulation of apoptotic process  regulation of neuron apoptotic process  post-translational protein modification  protein neddylation  protein neddylation  protein neddylation  protein heterodimerization activity  neuron apoptotic process  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  plasma membrane  signal transduction  NEDD8 activating enzyme activity  NEDD8 activating enzyme activity  ubiquitin protein ligase binding  mitotic DNA replication checkpoint  regulation of apoptotic process  regulation of apoptotic process  regulation of neuron apoptotic process  post-translational protein modification  protein neddylation  protein neddylation  protein neddylation  protein heterodimerization activity  neuron apoptotic process  
Pathways : KEGGAlzheimer's disease   
NDEx NetworkNAE1
Atlas of Cancer Signalling NetworkNAE1
Wikipedia pathwaysNAE1
Orthology - Evolution
OrthoDB8883
GeneTree (enSembl)ENSG00000159593
Phylogenetic Trees/Animal Genes : TreeFamNAE1
HOVERGENQ13564
HOGENOMQ13564
Homologs : HomoloGeneNAE1
Homology/Alignments : Family Browser (UCSC)NAE1
Gene fusions - Rearrangements
Fusion : QuiverNAE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNAE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NAE1
dbVarNAE1
ClinVarNAE1
1000_GenomesNAE1 
Exome Variant ServerNAE1
ExAC (Exome Aggregation Consortium)ENSG00000159593
GNOMAD BrowserENSG00000159593
Varsome BrowserNAE1
Genetic variants : HAPMAP8883
Genomic Variants (DGV)NAE1 [DGVbeta]
DECIPHERNAE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNAE1 
Mutations
ICGC Data PortalNAE1 
TCGA Data PortalNAE1 
Broad Tumor PortalNAE1
OASIS PortalNAE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNAE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNAE1
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
BioMutasearch NAE1
DgiDB (Drug Gene Interaction Database)NAE1
DoCM (Curated mutations)NAE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NAE1 (select a term)
intoGenNAE1
Cancer3DNAE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603385   
Orphanet
DisGeNETNAE1
MedgenNAE1
Genetic Testing Registry NAE1
NextProtQ13564 [Medical]
TSGene8883
GENETestsNAE1
Target ValidationNAE1
Huge Navigator NAE1 [HugePedia]
snp3D : Map Gene to Disease8883
BioCentury BCIQNAE1
ClinGenNAE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8883
Chemical/Pharm GKB GenePA162396730
Clinical trialNAE1
Miscellaneous
canSAR (ICR)NAE1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNAE1
EVEXNAE1
GoPubMedNAE1
iHOPNAE1
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 6 11:24:56 CET 2018
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