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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAE1 Gene

protein-coding   GIFtS: 62
GCID: GC16M066836

NEDD8 Activating Enzyme E1 Subunit 1

(Previous names: amyloid beta precursor protein binding protein 1, 59kDa)
(Previous symbol: APPBP1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NEDD8 Activating Enzyme E1 Subunit 11 2     A-116A10.12
APPBP11 2 3 5     Amyloid Beta Precursor Protein-Binding Protein 1, 59kD2
Amyloid Beta Precursor Protein Binding Protein 1, 59kDa1 2     NEDD8-Activating Enzyme E1 Regulatory Subunit2
Amyloid Beta Precursor Protein-Binding Protein 1, 59 KDa2 3     NEDD8-Activating Enzyme E1 Subunit2
Amyloid Protein-Binding Protein 12 3     Protooncogene Protein 12
Proto-Oncogene Protein 12 3     ula-12
APP-BP12 3     

External Ids:    HGNC: 6211   Entrez Gene: 88832   Ensembl: ENSG000001595937   OMIM: 6033855   UniProtKB: Q135643   

Export aliases for NAE1 gene to outside databases

Previous GC identifers: GC16M065395 GC16M052710


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NAE1 Gene:
The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a
cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of
Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate
NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint.
Three transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for NAE1 Gene: 
NAE1 (NEDD8 activating enzyme E1 subunit 1) is a protein-coding gene. Diseases associated with NAE1 include hepatitis e, and noma, and among its related super-pathways are Parkinson's disease. GO annotations related to this gene include nucleotide binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564
Function: Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its
C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine,
yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M.
Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through
deregulation of NEDD8 conjugation

Gene Wiki entry for NAE1 (APPBP1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAE1 gene promoter:
         SRF   NF-1   Pax-5   Tal-1   p53   SRF (504 AA)   E47   Ik-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

NAE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAE1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M066836:  view genomic region     (about GC identifiers)

Start:
66,836,778 bp from pter      End:
66,907,159 bp from pter
Size:
70,382 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 (See protein sequence)
Recommended Name: NEDD8-activating enzyme E1 regulatory subunit  
Size: 534 amino acids; 60246 Da
Subunit: Heterodimer of UBA3 and NAE1. The complex binds NEDD8 and UBE2M. Binds APP and TP53BP2
Subcellular location: Cell membrane. Note=Colocalizes with APP in lipid rafts
Miscellaneous: NAE1 and UBA3 correspond to the N-terminal and the C-terminal part of yeast UBA3. In yeast the two
subunits form a single polypeptide chain
6/9 PDB 3D structures from and Proteopedia for NAE1 (see all 9):
1R4M (3D)        1R4N (3D)        1TT5 (3D)        1YOV (3D)        2NVU (3D)        3DBH (3D)    
Secondary accessions: A6NFN4 B2R700
Alternative splicing: 2 isoforms:  Q13564-1   Q13564-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NAE1: NX_Q13564

Explore proteomics data for NAE1 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by TRIP12, leading to its degradation by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13564

  • NAE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAE1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001018169.1  NP_001018170.1  NP_003896.1  

    ENSEMBL proteins: 
     ENSP00000463546   ENSP00000351990   ENSP00000290810   ENSP00000462937   ENSP00000368776  
     ENSP00000377637   ENSP00000455562   ENSP00000454471   ENSP00000454506   ENSP00000464119  
     ENSP00000456847   ENSP00000462040   ENSP00000455967   ENSP00000456564  

    Human Recombinant Protein Products for NAE1: 
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    Novus Biologicals NAE1 Proteins
    Novus Biologicals NAE1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NAE1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8626687
    GO:0005886plasma membrane IEA--

    NAE1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBE1: Ubiquitin-like modifier activating enzymes

    3 InterPro protein domains:
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q13564

    ProtoNet protein and cluster: Q13564

    1 Blocks protein domain: IPB000594 UBA/THIF-type NAD/FAD binding fold

    UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564
    Similarity: Belongs to the ubiquitin-activating E1 family. ULA1 subfamily


    NAE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ULA1_HUMAN, Q13564
    Function: Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its
    C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine,
    yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M.
    Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through
    deregulation of NEDD8 conjugation
    Enzyme regulation: Binding of TP53BP2 to the regulatory subunit NAE1 decreases neddylation activity

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI10722740
    GO:0019781contributes to NEDD8 activating enzyme activity IDA12740388
    GO:0031625ubiquitin protein ligase binding IPI18627766
    GO:0046982protein heterodimerization activity IPI12740388
         
    NAE1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NAE1:
     Decreased influenza A/WSN/33 r  Increased circadian period len  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAE1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NAE1
        Alzheimers Disease



    1         Kegg Pathway  (Kegg details for NAE1):
        Alzheimer's disease

    UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564
    Pathway: Protein modification; protein neddylation


    NAE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NAE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/89 Interacting proteins for NAE1 (Q135642, 3 ENSP000002908104) via UniProtKB, MINT, STRING, and/or I2D (see all 89)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2MP610812, 3, ENSP000002530234MINT-6542674 I2D: score=3 STRING: ENSP00000253023
    NEDD8Q158432, 3, ENSP000002504954MINT-6542674 I2D: score=5 STRING: ENSP00000250495
    APPP050673, ENSP000002849814I2D: score=4 STRING: ENSP00000284981
    UBA3Q8TBC43, ENSP000003543404I2D: score=13 STRING: ENSP00000354340
    UIMC1Q96RL13, ENSP000003664344I2D: score=2 STRING: ENSP00000366434
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle ----
    GO:0007165signal transduction TAS8626687
    GO:0033314mitotic DNA replication checkpoint IDA10722740
    GO:0042981regulation of apoptotic process IDA14557245
    GO:0043523regulation of neuron apoptotic process IDA10722740

    NAE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAE1 (ULA1)

    1 DrugBank Compound for NAE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about NAE1 / ULA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAE1 gene (3 alternative transcripts): 
    NM_001018159.1  NM_001018160.1  NM_003905.3  

    Unigene Cluster for NAE1:

    NEDD8 activating enzyme E1 subunit 1
    Hs.460978  [show with all ESTs]
    Unigene Representative Sequence: NM_001018159
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000562428 ENST00000359087(uc002eqg.3 uc010cdv.3) ENST00000290810(uc002eqf.3)
    ENST00000566663 ENST00000563221 ENST00000568672 ENST00000379463(uc002eqe.3)
    ENST00000394074 ENST00000562074 ENST00000567521 ENST00000567743(uc010cdw.1)
    ENST00000563253 ENST00000563185 ENST00000561579 ENST00000564040 ENST00000569388
    ENST00000566336 ENST00000565535

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAE1

    Additional mRNA sequence: 

    AK097680.1 AK298159.1 AK307677.1 AK312784.1 AL136798.1 AY197612.1 BC000480.2 BC013301.2 
    BC041323.2 U50939.1 

    21 DOTS entries:

    DT.86847561  DT.92448264  DT.97802551  DT.417295  DT.101982931  DT.95177720  DT.100796436  DT.40132947 
    DT.92448266  DT.100712589  DT.100796442  DT.95177762  DT.100646036  DT.100865362  DT.120675278  DT.91977513 
    DT.95177712  DT.100703919  DT.120675252  DT.40132949  DT.91698729 

    24/301 AceView cDNA sequences (see all 301):

    CA775105 BU630112 BC000480 BU752325 AA373065 BF724441 CB140887 NM_003905 
    AL136798 BM978806 BQ437609 CA428599 BM827917 CR614006 BQ716155 BQ935849 
    CA419344 BU625325 AA173544 AA353343 CR611333 BM756136 CA429735 BQ430637 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NAE1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                -           -                                         -                       -                                             
    SP2:                    -           -           -                                         -                       -                                             
    SP3:                    -           -                                                                                                                           
    SP4:                                                                                                                                                            
    SP5:                    -                                                                                                                                       


    ECgene alternative splicing isoforms for NAE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAE1 expression in normal human tissues (normalized intensities)      NAE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACAAACTT
    NAE1 Expression
    About this image


    NAE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             Olfactory Bulb   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See NAE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAE1

    SOURCE GeneReport for Unigene cluster: Hs.460978

    UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564
    Tissue specificity: Ubiquitous in fetal tissues. Expressed throughout the adult brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including NAE1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Alzheimer's Disease in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAE1 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nae11 , 5 NEDD8 activating enzyme E1 subunit 11, 5 92.51(n)1
    97(a)1
      8 (53.04 cM)5
    2346641  NM_144931.31  NP_659180.11 
     1045110285 
    chicken
    (Gallus gallus)
    Aves NAE11 NEDD8 activating enzyme E1 subunit 1 79.28(n)
    84.08(a)
      415792  NM_001006129.1  NP_001006129.1 
    lizard
    (Anolis carolinensis)
    Reptilia NAE16
    NEDD8 activating enzyme E1 subunit 1
    74(a)
    1 ↔ 1
    GL343295.1(196760-216026)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.325852 Xenopus laevis transcribed sequence with moderate similarity more 79.19(n)    BU910737.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661482 hypothetical protein MGC66148 73.43(n)   393471  BC055513.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta APP-BP11 beta-Amyloid precursor protein binding protein 1 51.8(n)
    46.17(a)
      39244  NM_140178.4  NP_648435.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ula-16
    NEDD8-activating enzyme E1 regulatory subunit
    36(a)
    1 ↔ 1
    III(4918276-4920321)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ULA1(YPL003W)4 Protein that acts together with Uba3p to activate Rub1p more   --   16(552020-553408) 856104  NP_015322.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AXL1 amyloid beta precursor protein binding protein 1 50.52(n)
    41.67(a)
      817802  NM_128800.3  NP_180800.1 
    rice
    (Oryza sativa)
    Liliopsida Os.174272 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.04(n)    AK111534.1 


    ENSEMBL Gene Tree for NAE1 (if available)
    TreeFam Gene Tree for NAE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAE1 gene
    18/30 SIMAP similar genes for NAE1 using alignment to 14 protein entries:     ULA1_HUMAN (see all proteins) (see all similar genes):
    SUMO1    HBP1    VPS33A    FLJ00047    pp12301    KIAA0101
    CDK10    RBP7    RARS    DYNC2LI1    MST132    TUBA1C
    EEF1E1    PARK2    PFKFB3    ADCK1    C21orf37    SEPSECS

    NAE1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NAE1
    PGOHUM00000256677


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/542 SNPs in NAE1 are shown (see all 542)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384202181,2
    --66837739(+) GATCCA/GCCCAC 3 -- int10--------
    rs1378571721,2
    C--66837909(+) CAGCA-/AGAG  
            
    AGAGA
    3 -- int10--------
    rs1492748641,2
    --66838102(+) TATAAA/TGGCAC 3 -- int10--------
    rs2008141101,2
    C--66838145(+) AAAAAA/CAAAAA 3 -- int10--------
    rs723607461,2
    C--66838149(+) CAAAA-/A/CAAAAA 3 -- int10--------
    rs1829428531,2
    --66838349(+) ATTATG/TCTGAA 3 -- int10--------
    rs1112682571,2
    C,F--66838408(+) ATGATG/TCATTT 3 -- int12Minor allele frequency- T:0.05CSA WA 119
    rs5434191,2
    C,F,O,H--66838417(+) TTACAC/TTTTGA 3 -- int124Minor allele frequency- N:0.00EA NA NS WA 2560
    rs1434298831,2
    C--66838498(+) GCTAAC/TAGCTC 3 -- int10--------
    rs1145037571,2
    F--66838686(+) CCCTAA/CGAAGA 3 -- int11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for NAE1 (66836778 - 66907159 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NAE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv819809CNV Loss19587683
    dgv2885n71CNV Loss21882294
    nsv510690CNV Loss20534489

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603385    OMIM disorders: --

    6 diseases for NAE1:    About MalaCards
    hepatitis e    noma    alzheimer's disease    hepatitis
    gastric cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NAE1:
    Hepatitis E

    NAE1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NAE1

    Export disorders for NAE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAE1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with NAE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer. (PubMed id 12740388)1, 2, 3 Bohnsack R.N. and Haas A.L. (2003)
    2. APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. (PubMed id 8626687)1, 2, 3 Chow N.... Neve R.L. (1996)
    3. APP-BP1 mediates APP-induced apoptosis and DNA synthesis and is increased in Alzheimer's disease brain. (PubMed id 14557245)1, 2, 9 Chen Y.... Neve R.L. (2003)
    4. TRIP12 functions as an E3 ubiquitin ligase of APP-BP1. (PubMed id 18627766)1, 2 Park Y....Yoon J.B. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. A unique E1-E2 interaction required for optimal conjugation of the ubiquitin-like protein NEDD8. (PubMed id 15361859)1, 2 Huang D.T.... Schulman B.A. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Insights into the ubiquitin transfer cascade from the structure of the activating enzyme for NEDD8. (PubMed id 12646924)1, 2 Walden H.... Schulman B.A. (2003)
    9. The structure of the APPBP1-UBA3-NEDD8-ATP complex reveals the basis for selective ubiquitin-like protein activation by an E1. (PubMed id 14690597)1, 2 Walden H.... Schulman B.A. (2003)
    10. ASPP2 inhibits APP-BP1-mediated NEDD8 conjugation to cullin-1 and decreases APP-BP1-induced cell proliferation and neuronal apoptosis. (PubMed id 12694406)1, 2 Chen Y.... Neve R.L. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8883 HGNC: 621 AceView: APPBP1 Ensembl:ENSG00000159593 euGenes: HUgn8883
    ECgene: NAE1 Kegg: 8883 H-InvDB: NAE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAE1 gene:
    Search GeneIP for patents involving NAE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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