Human Gene NAE1 (ENST00000290810.8) from GENCODE V44
  Description: Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA. (from RefSeq NM_003905)
RefSeq Summary (NM_003905): 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].
Gencode Transcript: ENST00000290810.8
Gencode Gene: ENSG00000159593.15
Transcript (Including UTRs)
   Position: hg38 chr16:66,802,878-66,830,976 Size: 28,099 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg38 chr16:66,803,009-66,830,899 Size: 27,891 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:66,802,878-66,830,976)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ULA1_HUMAN
DESCRIPTION: RecName: Full=NEDD8-activating enzyme E1 regulatory subunit; AltName: Full=Amyloid beta precursor protein-binding protein 1, 59 kDa; Short=APP-BP1; AltName: Full=Amyloid protein-binding protein 1; AltName: Full=Proto-oncogene protein 1;
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.
PATHWAY: Protein modification; protein neddylation.
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.
TISSUE SPECIFICITY: Ubiquitous in fetal tissues. Expressed throughout the adult brain.
PTM: Ubiquitinated by TRIP12, leading to its degradation by the proteasome.
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.
SIMILARITY: Belongs to the ubiquitin-activating E1 family. ULA1 subfamily.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAE1
Diseases sorted by gene-association score: alzheimer disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.10 RPKM in Testis
Total median expression: 609.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.6077-0.540 Picture PostScript Text
3' UTR -20.80131-0.159 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009036 - Molybdenum_cofac_synth_MoeB
IPR016040 - NAD(P)-bd_dom
IPR000594 - ThiF_NAD_FAD-bd

Pfam Domains:
PF00899 - ThiF family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1R4M - X-ray MuPIT 1R4N - X-ray MuPIT 1TT5 - X-ray MuPIT 1YOV - X-ray MuPIT 2NVU - X-ray MuPIT 3DBH - X-ray MuPIT 3DBL - X-ray MuPIT 3DBR - X-ray MuPIT 3GZN - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13564
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsemblWormBaseSGD
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008641 small protein activating enzyme activity
GO:0019781 NEDD8 activating enzyme activity
GO:0031625 ubiquitin protein ligase binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0033314 mitotic DNA replication checkpoint
GO:0042981 regulation of apoptotic process
GO:0043523 regulation of neuron apoptotic process
GO:0043687 post-translational protein modification
GO:0045116 protein neddylation
GO:0051402 neuron apoptotic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF208261 - JP 2014500723-A/15764: Polycomb-Associated Non-Coding RNAs.
MA443838 - JP 2018138019-A/15764: Polycomb-Associated Non-Coding RNAs.
AY197612 - Homo sapiens protooncogene protein 1 mRNA, complete cds.
LF213756 - JP 2014500723-A/21259: Polycomb-Associated Non-Coding RNAs.
MA449333 - JP 2018138019-A/21259: Polycomb-Associated Non-Coding RNAs.
BC041323 - Homo sapiens NEDD8 activating enzyme E1 subunit 1, mRNA (cDNA clone IMAGE:3911694).
BC000480 - Homo sapiens NEDD8 activating enzyme E1 subunit 1, mRNA (cDNA clone MGC:8690 IMAGE:2964638), complete cds.
BC013301 - Homo sapiens NEDD8 activating enzyme E1 subunit 1, mRNA (cDNA clone MGC:4246 IMAGE:2964638), complete cds.
U50939 - Human amyloid precursor protein-binding protein 1 mRNA, complete cds.
AK298159 - Homo sapiens cDNA FLJ55878 complete cds, highly similar to NEDD8-activating enzyme E1 regulatory subunit.
AK097680 - Homo sapiens cDNA FLJ40361 fis, clone TESTI2034407, highly similar to NEDD8-activating enzyme E1 regulatory subunit.
AL136798 - Homo sapiens mRNA; cDNA DKFZp434P241 (from clone DKFZp434P241).
LF373994 - JP 2014500723-A/181497: Polycomb-Associated Non-Coding RNAs.
MA609571 - JP 2018138019-A/181497: Polycomb-Associated Non-Coding RNAs.
JD498974 - Sequence 479998 from Patent EP1572962.
DQ892741 - Synthetic construct clone IMAGE:100005371; FLH189273.01X; RZPDo839D0574D amyloid beta precursor protein binding protein 1 (APPBP1) gene, encodes complete protein.
AK312784 - Homo sapiens cDNA, FLJ93201, Homo sapiens amyloid beta precursor protein binding protein 1,59kDa (APPBP1), mRNA.
KJ892646 - Synthetic construct Homo sapiens clone ccsbBroadEn_02040 NAE1 gene, encodes complete protein.
DQ895987 - Synthetic construct Homo sapiens clone IMAGE:100010447; FLH189269.01L; RZPDo839D0564D amyloid beta precursor protein binding protein 1 (APPBP1) gene, encodes complete protein.
LF374003 - JP 2014500723-A/181506: Polycomb-Associated Non-Coding RNAs.
MA609580 - JP 2018138019-A/181506: Polycomb-Associated Non-Coding RNAs.
LF374007 - JP 2014500723-A/181510: Polycomb-Associated Non-Coding RNAs.
MA609584 - JP 2018138019-A/181510: Polycomb-Associated Non-Coding RNAs.
AK307677 - Homo sapiens cDNA, FLJ97625.
LF374008 - JP 2014500723-A/181511: Polycomb-Associated Non-Coding RNAs.
MA609585 - JP 2018138019-A/181511: Polycomb-Associated Non-Coding RNAs.
LF374014 - JP 2014500723-A/181517: Polycomb-Associated Non-Coding RNAs.
MA609591 - JP 2018138019-A/181517: Polycomb-Associated Non-Coding RNAs.
JD456165 - Sequence 437189 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05010 - Alzheimer's disease

BioCyc Knowledge Library
PWY-7899 - protein NEDDylation

Reactome (by CSHL, EBI, and GO)

Protein Q13564 (Reactome details) participates in the following event(s):

R-HSA-8951648 NEDD8 covalently binds catalytic cysteine of UBA3:NAE1
R-HSA-8951656 NEDD8-UBA3:NAE1 binds a second NEDD8
R-HSA-8951661 Transfer of NEDD8 to AcM-UBE2M
R-HSA-8951764 Transfer of NEDD8 to AcM-UBE2F
R-HSA-8951751 Doubly neddylated UBA3:NAE1 binds AcM-UBE2M
R-HSA-8951766 Doubly neddylated UBA3:NAE1 binds AcM-UBE2F
R-HSA-8951664 Neddylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NFN4, APPBP1, B2R700, ENST00000290810.1, ENST00000290810.2, ENST00000290810.3, ENST00000290810.4, ENST00000290810.5, ENST00000290810.6, ENST00000290810.7, HPP1, NM_003905, Q13564, uc002eqf.1, uc002eqf.2, uc002eqf.3, uc002eqf.4, uc002eqf.5, ULA1_HUMAN
UCSC ID: ENST00000290810.8
RefSeq Accession: NM_003905
Protein: Q13564 (aka ULA1_HUMAN)
CCDS: CCDS10820.1, CCDS42171.1, CCDS67050.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.