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Aliases for NAE1 Gene

Aliases for NAE1 Gene

  • NEDD8 Activating Enzyme E1 Subunit 1 2 3 5
  • Amyloid Beta Precursor Protein-Binding Protein 1, 59 KDa 3 4
  • Amyloid Beta Precursor Protein Binding Protein 1, 59kDa 2 3
  • Amyloid Protein-Binding Protein 1 3 4
  • Proto-Oncogene Protein 1 3 4
  • APP-BP1 3 4
  • APPBP1 3 4
  • Amyloid Beta Precursor Protein-Binding Protein 1, 59kD 3
  • NEDD8-Activating Enzyme E1 Regulatory Subunit 3
  • NEDD8-Activating Enzyme E1 Subunit 3
  • Protooncogene Protein 1 3
  • A-116A10.1 3
  • Ula-1 3
  • HPP1 3

External Ids for NAE1 Gene

Previous HGNC Symbols for NAE1 Gene

  • APPBP1

Previous GeneCards Identifiers for NAE1 Gene

  • GC16M065395
  • GC16M052710

Summaries for NAE1 Gene

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 Alzheimer Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protein heterodimerization activity and NEDD8 activating enzyme activity.

UniProtKB/Swiss-Prot for NAE1 Gene

  • 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 Gene

Additional gene information for NAE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAE1 Gene

Genomics for NAE1 Gene

Regulatory Elements for NAE1 Gene

Enhancers for NAE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H067555 1.5 Ensembl ENCODE dbSUPER 59.4 -683.1 -683053 1 ZNF493 ZFP64 ZNF121 FOS KLF7 ZNF202 ZC3H11A REST ZNF623 ZNF518A ZDHHC1 EDC4 CENPT ENSG00000260465 CTCF ENKD1 NAE1 E2F4 ENSG00000263276 ACD
GH16H067310 1.6 FANTOM5 Ensembl ENCODE 40.3 -438.9 -438886 2 HDGF PKNOX1 ATF1 BRCA1 ZNF2 GATA2 ATF7 FOS RUNX3 SP3 NAE1 ZDHHC1 PLEKHG4 ENSG00000260465 ACD KIAA0895L CTCF SLC7A6OS PRMT7 CENPT
GH16H066547 1.4 ENCODE dbSUPER 45.2 +322.2 322206 6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 NAE1 ZDHHC1 TK2 BEAN1 PLEKHG4 ENSG00000260465 BEAN1-AS1 E2F4 KIAA0895L CMTM2
GH16H066378 1.7 FANTOM5 Ensembl ENCODE dbSUPER 34.5 +491.8 491833 6 ATF1 INSM2 YBX1 PLRG1 ZBTB40 RFX5 ZNF155 ZNF366 RCOR1 FOS LINC00920 NAE1 KIAA0895L E2F4 ENSG00000260465 HSF4 CDH5 GC16P066378
GH16H066515 2.1 FANTOM5 Ensembl ENCODE dbSUPER 24 +352.0 352033 12 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 TK2 CKLF ENSG00000260465 ZDHHC1 NAE1 BEAN1 CKLF-CMTM1 E2F4 CMTM2 PLEKHG4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAE1 on UCSC Golden Path with GeneCards custom track

Promoters for NAE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087021 -44 201 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 FOS

Genomic Location for NAE1 Gene

Chromosome:
16
Start:
66,802,875 bp from pter
End:
66,873,256 bp from pter
Size:
70,382 bases
Orientation:
Minus strand

Genomic View for NAE1 Gene

Genes around NAE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAE1 Gene

Proteins for NAE1 Gene

  • Protein details for NAE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13564-ULA1_HUMAN
    Recommended name:
    NEDD8-activating enzyme E1 regulatory subunit
    Protein Accession:
    Q13564
    Secondary Accessions:
    • A6NCK0
    • A6NFN4
    • A8MU28
    • B2R700
    • B3KUP9

    Protein attributes for NAE1 Gene

    Size:
    534 amino acids
    Molecular mass:
    60246 Da
    Quaternary structure:
    • Heterodimer of UBA3 and NAE1. The complex binds NEDD8 and UBE2M. Binds APP and TP53BP2.
    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.

    Three dimensional structures from OCA and Proteopedia for NAE1 Gene

    Alternative splice isoforms for NAE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAE1 Gene

Post-translational modifications for NAE1 Gene

  • Ubiquitinated by TRIP12, leading to its degradation by the proteasome.
  • Ubiquitination at Lys12, Lys167, posLast=187187, posLast=299299, posLast=317317, Lys363, and posLast=381381
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NAE1 (APPBP1)

No data available for DME Specific Peptides for NAE1 Gene

Domains & Families for NAE1 Gene

Gene Families for NAE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NAE1 Gene

Suggested Antigen Peptide Sequences for NAE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13564

UniProtKB/Swiss-Prot:

ULA1_HUMAN :
  • Belongs to the ubiquitin-activating E1 family. ULA1 subfamily.
Family:
  • Belongs to the ubiquitin-activating E1 family. ULA1 subfamily.
genes like me logo Genes that share domains with NAE1: view

Function for NAE1 Gene

Molecular function for NAE1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Binding of TP53BP2 to the regulatory subunit NAE1 decreases neddylation activity.
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for NAE1 Gene

Gene Ontology (GO) - Molecular Function for NAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8626687
GO:0008641 small protein activating enzyme activity IEA --
GO:0019781 contributes_to NEDD8 activating enzyme activity IEA,IDA 12740388
GO:0031625 ubiquitin protein ligase binding IPI 18627766
GO:0046982 protein heterodimerization activity IPI 12740388
genes like me logo Genes that share ontologies with NAE1: view
genes like me logo Genes that share phenotypes with NAE1: view

Animal Models for NAE1 Gene

MGI Knock Outs for NAE1:
  • Nae1 tm1b(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for NAE1 Gene

miRTarBase miRNAs that target NAE1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NAE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NAE1 Gene

Localization for NAE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAE1 Gene

Cell membrane. Note=Colocalizes with APP in lipid rafts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAE1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
cytoskeleton 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Microtubules (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 8626687
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NAE1: view

Pathways & Interactions for NAE1 Gene

genes like me logo Genes that share pathways with NAE1: view

Pathways by source for NAE1 Gene

1 BioSystems pathway for NAE1 Gene
1 KEGG pathway for NAE1 Gene

UniProtKB/Swiss-Prot Q13564-ULA1_HUMAN

  • Pathway: Protein modification; protein neddylation.

Gene Ontology (GO) - Biological Process for NAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 8626687
GO:0033314 mitotic DNA replication checkpoint IDA 10722740
GO:0042981 regulation of apoptotic process IMP 10722740
genes like me logo Genes that share ontologies with NAE1: view

No data available for SIGNOR curated interactions for NAE1 Gene

Drugs & Compounds for NAE1 Gene

(3) Drugs for NAE1 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Nutra Agonist, Target 0
MLN4924 Pharma NAE inhibitor 0
MLN4924 HCl salt Pharma NAE inhibitor 0

(2) ApexBio Compounds for NAE1 Gene

Compound Action Cas Number
MLN4924 NAE inhibitor 905579-51-3
MLN4924 HCl salt NAE inhibitor 1160295-21-5
genes like me logo Genes that share compounds with NAE1: view

Drug Products

Transcripts for NAE1 Gene

Unigene Clusters for NAE1 Gene

NEDD8 activating enzyme E1 subunit 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NAE1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NAE1 Gene

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: -

Relevant External Links for NAE1 Gene

GeneLoc Exon Structure for
NAE1
ECgene alternative splicing isoforms for
NAE1

Expression for NAE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAE1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAE1 Gene



Protein tissue co-expression partners for NAE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAE1 Gene:

NAE1

SOURCE GeneReport for Unigene cluster for NAE1 Gene:

Hs.460978

mRNA Expression by UniProt/SwissProt for NAE1 Gene:

Q13564-ULA1_HUMAN
Tissue specificity: Ubiquitous in fetal tissues. Expressed throughout the adult brain.

Evidence on tissue expression from TISSUES for NAE1 Gene

  • Nervous system(4.9)
  • Muscle(4.3)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Intestine(2.3)
  • Pancreas(2.3)
  • Skin(2.3)
  • Spleen(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with NAE1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAE1 Gene

Orthologs for NAE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAE1 34 33
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NAE1 33 34
  • 95.76 (n)
cow
(Bos Taurus)
Mammalia NAE1 33 34
  • 94.94 (n)
mouse
(Mus musculus)
Mammalia Nae1 16 34 33
  • 92.51 (n)
rat
(Rattus norvegicus)
Mammalia Nae1 33
  • 92.32 (n)
oppossum
(Monodelphis domestica)
Mammalia NAE1 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAE1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAE1 34 33
  • 79.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAE1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nae1 33
  • 74.32 (n)
Str.15276 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32585 33
zebrafish
(Danio rerio)
Actinopterygii nae1 33 34
  • 67.36 (n)
zgc66148 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11046 33
fruit fly
(Drosophila melanogaster)
Insecta APP-BP1 34 33
  • 52.18 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005544 33
  • 48.76 (n)
worm
(Caenorhabditis elegans)
Secernentea ula-1 34
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ULA1 34 36
  • 29 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AXL 33
  • 50.52 (n)
rice
(Oryza sativa)
Liliopsida Os03g0820100 33
  • 53.88 (n)
Os.17427 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for NAE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAE1 Gene

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

Paralogs for NAE1 Gene

No data available for Paralogs for NAE1 Gene

Variants for NAE1 Gene

Sequence variations from dbSNP and Humsavar for NAE1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000088829 -- 66,804,828(+) ACCAT(A/G)TGAGA intron-variant
rs1000162037 -- 66,812,323(+) TCTCA(C/T)AAGGT intron-variant
rs1000181850 -- 66,805,127(+) AGGCA(C/T)AGAGG intron-variant
rs1000403264 -- 66,805,649(+) AAAAA(-/AAAG)AAAGA intron-variant
rs1000448077 -- 66,819,002(+) TGACA(A/G)TACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAE1 Gene

Variant ID Type Subtype PubMed ID
nsv510690 CNV deletion 20534489
nsv819809 CNV loss 19587683

Variation tolerance for NAE1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAE1 Gene

Disorders for NAE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAE1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search NAE1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NAE1

Genetic Association Database (GAD)
NAE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAE1
genes like me logo Genes that share disorders with NAE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAE1 Gene

Publications for NAE1 Gene

  1. APP-BP1 mediates APP-induced apoptosis and DNA synthesis and is increased in Alzheimer's disease brain. (PMID: 14557245) Chen Y … Neve RL (The Journal of cell biology 2003) 3 4 22 60
  2. Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer. (PMID: 12740388) Bohnsack RN … Haas AL (The Journal of biological chemistry 2003) 2 3 4 60
  3. APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. (PMID: 8626687) Chow N … Neve RL (The Journal of biological chemistry 1996) 2 3 4 60
  4. TRIP12 functions as an E3 ubiquitin ligase of APP-BP1. (PMID: 18627766) Park Y … Yoon JB (Biochemical and biophysical research communications 2008) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for NAE1 Gene

Sources for NAE1 Gene

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