NAE1 Gene
protein-coding GIFtS : 57
GC16M065395
NEDD8 activating enzyme E1 subunit 1 (Previous names: amyloid beta precursor protein-binding protein 1, 59kD, amyloid beta precursor protein binding protein 1, 59kDa, amyloid beta precursor protein binding protein 1 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: APPBP1 )
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Aliases & Descriptions for NAE1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases A-116A10.1 2 APP-BP1 3 APPBP1 2 , 3 , 5 HPP1 2 ula-1 1 , 2
Descriptions Amyloid beta precursor protein-binding protein 1, 59 kDa 3 Amyloid protein-binding protein 1 2 , 3 NEDD8 activating enzyme E1 subunit 1 2 NEDD8-activating enzyme E1 subunit 2 Proto-oncogene protein 1 3 amyloid beta precursor protein binding protein 1 1 amyloid beta precursor protein binding protein 1, 59kDa 1 , 2 amyloid beta precursor protein-binding protein 1, 59kD 1 , 2 protooncogene protein 1 2
Search outside databases for aliases for NAE1 gene
Summaries for NAE1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for NAE1 : The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloidprecursor protein is a cell surface protein with signal-transducing properties, and it is thoughtto play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded proteincan form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. Thisprotein is required for cell cycle progression through the S/M checkpoint. Three transcriptvariants encoding different isoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 Function : Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by firstadenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finallytransfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression throughthe S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8conjugation
Gene Wiki entry for NAE1 (APPBP1)
Genomic Location for NAE1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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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) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M065395:
(about GC identifiers )
Start:
65,394,279 bp from pter
End:
65,422,380 bp from pter
Size:
28,102 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.8 NT_010498.15 Proteins for NAE1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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. Inyeast the two subunits form a single polypeptide chain
PDB structures from and Proteopedia : 1R4M (3D)
 1R4N (3D)
 1TT5 (3D)
 1YOV (3D)
 2NVU (3D)
 3DBH (3D)
 3DBL (3D)
 3DBR (3D)
 
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001018169.1 NP_001018170.1 NP_003896.1 ENSEMBL proteins: ENSP00000290810 ENSP00000377637 ENSP00000368776 ENSP00000351990 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: NAE1 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for NAE1: Assays for NAE1:
Protein
Domains/ Families for NAE1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13564 ProtoNet protein and cluster: Q13564
1 Blocks protein family : IPB000594 UBA/THIF-type NAD/FAD binding fold UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 Similarity : Belongs to the ubiquitin-activating E1 family. ULA1 subfamily
Gene Function for NAE1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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RNAi Products ,
Clones , and
Q-PCR Products
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003905 Applied Biosystems Silencer ® siRNAs for NAE1 Sigma-Aldrich siRNA and siRNA Panels for NAE1 Sigma-Aldrich shRNA Panels and shRNA for NAE1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003905 UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 Function : Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by firstadenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finallytransfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression throughthe S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8conjugation Enzyme regulation : Binding of TP53BP2 to the regulatory subunit NAE1 decreases neddylation activity
4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for NAE1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 Pathway : Protein modification; protein neddylation
Gene Network CentralTM Interacting Genes and Proteins Network for NAE1 5/182 Interacting proteins for NAE1 (ENSP00000290810 3 Q13564 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 182
)About this table 5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
):
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Drugs & Compounds for NAE1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for NAE1
Transcripts for NAE1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
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Millipore , and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_003905 Sigma-Aldrich siRNA and siRNA Panels for NAE1 Sigma-Aldrich shRNA Panels and shRNA for NAE1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001018159 NM_001018160 NM_003905
REFSEQ mRNAs for NAE1 gene (3 alternative transcripts): NM_001018159.1 NM_001018160.1 NM_003905.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001018159 NM_001018160 NM_003905
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001018159  
Additional cDNA sequence: AK097680.1 AK298159.1 AK307677.1 AK312784.1 AL136798.1 AY197612.1 BC000480.2 BC013301.2 BC041323.2 CR597312.1 CR611333.1 CR614006.1 U50939.1
22 DOTS entries : DT.86847561 DT.97802551 DT.92448264 DT.417295 DT.101982931 DT.95177720 DT.100796436 DT.40132947 DT.92448266 DT.100712589 DT.100796442 DT.92017156 DT.95177762 DT.100646036 DT.100703919 DT.100865362 DT.120675278 DT.91977513 DT.95177712 DT.120675252 DT.40132949 DT.91698729
24/301 AceView cDNA sequences (see all 301
):BM788716 BQ716155 BM785899 BQ935849 NM_003905 AL136798 CA429735 BM827917 BP371260 AW328271 BM788741 AU142742 CR597312 CR611333 BE788060 BM978806 AU137597 AA353343 BQ430637 BU625325 AW328270 H91836 CA775105 BU752325
Unigene Cluster for NAE1: NEDD8 activating enzyme E1 subunit 1 Hs.460978 [show with all ESTs ] Unigene Representative Sequence: NM_001018159 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for NAE1 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 :       -                                              
About this scheme ECgene alternative splicing isoforms for NAE1 4 Ensembl transcripts including schematic representations : ENST00000290810
ENST00000394074
ENST00000379463
ENST00000359087
Expression for NAE1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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NAE1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for NAE1 1 / 2
3 probe-sets matching NAE1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCACAAACTTSOURCE GeneReport for Unigene cluster: Hs.460978 UniProtKB/Swiss-Prot: ULA1_HUMAN, Q13564 Tissue specificity : Ubiquitous in fetal tissues. Expressed throughout the adult brain
Orthologs for NAE1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for NAE1 gene from 5/15 species (see all 15
)
About this table Species with no ortholog for NAE1 ENSEMBL Gene Tree for NAE1 Paralogs for NAE1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for NAE1 gene SAE1 2
SNPs/Variants for NAE1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for NAE1 (up to first 250kb)
Disorders & Mutations for NAE1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603385
Medical News for NAE1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for NAE1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/23 PubMed articles for NAE1 gene (see all 23
): Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer. (PubMed id 12740388) 2, 3, 4 Bohnsack R.N. and Haas A.L. (2003) APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. (PubMed id 8626687) 2, 3, 4 Chow N.... Neve R.L. (1996) APP-BP1 mediates APP-induced apoptosis and DNA synthesis and is increased in Alzheimer's disease brain. (PubMed id 14557245) 1, 3, 4 Chen Y.... Neve R.L. (2003) A unique E1-E2 interaction required for optimal conjugation of the ubiquitin-like protein NEDD8. (PubMed id 15361859) 3, 4 Huang D.T.... Schulman B.A. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Insights into the ubiquitin transfer cascade from the structure of the activating enzyme for NEDD8. (PubMed id 12646924) 3, 4 Walden H.... Schulman B.A. (2003) The structure of the APPBP1-UBA3-NEDD8-ATP complex reveals the basis for selective ubiquitin-like protein activation by an E1. (PubMed id 14690597) 3, 4 Walden H.... Schulman B.A. (2003) ASPP2 inhibits APP-BP1-mediated NEDD8 conjugation to cullin-1 and decreases APP-BP1-induced cell proliferation and neuronal apoptosis. (PubMed id 12694406) 3, 4 Chen Y.... Neve R.L. (2003) Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166) 3, 4 Wiemann S.... Poustka A. (2001) The amyloid precursor protein-binding protein APP-BP1 drives the cell cycle through the S-M checkpoint and causes apoptosis in neurons. (PubMed id 10722740) 3, 4 Chen Y.... Neve R.L. (2000)
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Genome Databases showing NAE1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing NAE1
(According to HUGE )
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Specialized Databases showing NAE1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for NAE1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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