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Aliases for NAE1 Gene

Aliases for NAE1 Gene

  • NEDD8 Activating Enzyme E1 Subunit 1 2 3
  • 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 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 Alzheimers disease. 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

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

Genomics for NAE1 Gene

Regulatory Elements for NAE1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NAE1 Gene at MOPED

Post-translational modifications for NAE1 Gene

  • Ubiquitinated by TRIP12, leading to its degradation by the proteasome.
  • Ubiquitination at Lys 12, Lys 167, Lys 187, Lys 299, Lys 317, Lys 363, and Lys 381
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NAE1 Gene

Domains & Families for NAE1 Gene

Gene Families for NAE1 Gene

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.

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 --
GO:0019781 contributes_to NEDD8 activating enzyme activity 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 Model Products

miRNA for NAE1 Gene

miRTarBase miRNAs that target NAE1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NAE1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for NAE1 Gene COMPARTMENTS Subcellular localization image for NAE1 gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for NAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm TAS 8626687
GO:0005829 cytosol --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with NAE1: view

Pathways & Interactions for NAE1 Gene

SuperPathways for NAE1 Gene

Superpath Contained pathways
1 Alzheimers disease
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0007165 signal transduction TAS 8626687
GO:0008152 metabolic process --
GO:0033314 mitotic DNA replication checkpoint IDA 10722740
GO:0042981 regulation of apoptotic process IMP 10722740
GO:0043523 regulation of neuron apoptotic process IDA 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

(1) Drugs for NAE1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
genes like me logo Genes that share compounds with NAE1: view

Transcripts for NAE1 Gene

Unigene Clusters for NAE1 Gene

NEDD8 activating enzyme E1 subunit 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NAE1

Flow Cytometry Products

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 for NAE1 Gene

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



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.
genes like me logo Genes that share expression patterns with NAE1: view

Protein tissue co-expression partners for NAE1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia NAE1 35
  • 94.94 (n)
  • 97.75 (a)
NAE1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAE1 35
  • 95.76 (n)
  • 97.75 (a)
NAE1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nae1 35
  • 92.51 (n)
  • 97 (a)
Nae1 16
Nae1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NAE1 35
  • 99.75 (n)
  • 99.63 (a)
NAE1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nae1 35
  • 92.32 (n)
  • 96.44 (a)
oppossum
(Monodelphis domestica)
Mammalia NAE1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAE1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAE1 35
  • 79.28 (n)
  • 84.08 (a)
NAE1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAE1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nae1 35
  • 74.32 (n)
  • 78.75 (a)
Str.15276 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32585 35
zebrafish
(Danio rerio)
Actinopterygii nae1 35
  • 67.36 (n)
  • 73.16 (a)
zgc66148 35
nae1 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11046 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005544 35
  • 48.76 (n)
  • 45.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta APP-BP1 35
  • 52.18 (n)
  • 47.02 (a)
APP-BP1 36
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ula-1 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ULA1 36
  • 29 (a)
OneToOne
ULA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AXL 35
  • 50.52 (n)
  • 41.67 (a)
rice
(Oryza sativa)
Liliopsida Os.17427 35
Os03g0820100 35
  • 53.88 (n)
  • 43.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for NAE1:
  • 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

Pseudogenes.org Pseudogenes for NAE1 Gene

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

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 MAF
rs152164 -- 66,828,063(+) CAAAT(A/G)TATGG utr-variant-5-prime, intron-variant, upstream-variant-2KB
rs187389 -- 66,827,335(+) aggcc(A/G)aggca intron-variant, upstream-variant-2KB
rs363167 -- 66,808,292(+) CTTCT(A/G)TACAT intron-variant
rs363168 -- 66,808,774(+) TCACA(A/C)AATGG intron-variant
rs363169 -- 66,808,891(+) TCTTT(A/T)ATATC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2885n71 CNV Loss 21882294
nsv819809 CNV Loss 19587683
nsv510690 CNV Loss 20534489

Variation tolerance for NAE1 Gene

Residual Variation Intolerance Score: 15.12% 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

HapMap Linkage Disequilibrium report
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
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. Drosophila homolog of APP-BP1 (dAPP-BP1) interacts antagonistically with APPL during Drosophila development. (PMID: 16628230) Kim H.J. … Yim J. (Cell Death Differ. 2007) 23 67
  2. Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer. (PMID: 12740388) Bohnsack R.N. … Haas A.L. (J. Biol. Chem. 2003) 2 67
  3. APP-BP1 mediates APP-induced apoptosis and DNA synthesis and is increased in Alzheimer's disease brain. (PMID: 14557245) Chen Y. … Neve R.L. (J. Cell Biol. 2003) 23 67
  4. APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. (PMID: 8626687) Chow N. … Neve R.L. (J. Biol. Chem. 1996) 2 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for NAE1 Gene

Sources for NAE1 Gene

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