• Gene id: 8883

Gene Summary

• Gene Symbol: NAE1   Gene   UCSC   Ensembl
• Aliases: A-116A10.1, APPBP1, HPP1, ula-1
• Gene name: NEDD8 activating enzyme E1 subunit 1
• Alternate names: NEDD8-activating enzyme E1 regulatory subunit, APP-BP1, NEDD8-activating enzyme E1 subunit, amyloid beta precursor protein binding protein 1, 59kDa, amyloid beta precursor protein-binding protein 1, 59 kDa, amyloid beta precursor protein-binding protein 1, 59k,
• Gene location: 16q22.1 (16981585: 16974501)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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 addi
• OMIM: 603385

Protein Summary

• Protein general information: Q13564  
  • Name: NEDD8 activating enzyme E1 regulatory subunit (Amyloid beta precursor protein binding protein 1, 59 kDa) (APP BP1) (Amyloid protein binding protein 1) (Proto oncogene protein 1)
  • Length: 534  
  • Mass: 60246
  • Tissue specificity: Ubiquitous in fetal tissues. Expressed throughout the adult brain. {ECO
• Sequence:

  MAQLGKLLKEQKYDRQLRLWGDHGQEALESAHVCLINATATGTEILKNLVLPGIGSFTIIDGNQVSGEDAGNNFF
  LQRSSIGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPL
  LICRTYGLVGYMRIIIKEHPVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQW
  YSETNGRIPKTYKEKEDFRDLIRQGILKNENGAPEDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQ
  TPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREKAKKDAAAVGNHVAKLLQSIGQAPESI
  SEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQGRYPGVSNYQV
  EEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGM
  SQTSATFQL

• Structural information:
  • Interpro: IPR030667  IPR000594  IPR035985  
  • PDB: 1R4M 1R4N 1TT5 1YOV 2NVU 3DBH 3DBL 3DBR 3GZN
  • PDBsum: 1R4M 1R4N 1TT5 1YOV 2NVU 3DBH 3DBL 3DBR 3GZN
  • STRING: ENSP00000351990
• Other Databases: GeneCards:  NAE1  Malacards:  NAE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0045116	protein neddylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0045116	protein neddylation	IEA	biological process
GO:0019781	NEDD8 activating enzyme activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045116	protein neddylation	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IDA	biological process
GO:0042981	regulation of apoptotic process	IDA	biological process
GO:0033314	mitotic DNA replication checkpoint	IDA	biological process
GO:0019781	NEDD8 activating enzyme activity	IDA	contributes to
GO:0051402	neuron apoptotic process	IDA	biological process
GO:0045116	protein neddylation	IDA	biological process
GO:0045116	protein neddylation	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID:14557245
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)