NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

Also Known as HPP1; ula-1; APPBP1; A-116A10.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8883

About NAE1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:66,802,878-66,830,976 (from NCBI)

This gene has 22 transcripts (splice variants), 215 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 28.1), thyroid (RPKM 17.4) and 25 other tissues.

Summary

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]

NAE1 Products (4)

mRNA	Protein	Name
NM_001018159.2	NP_001018169.1	NEDD8-activating enzyme E1 regulatory subunit isoform b
NM_001018160.2	NP_001018170.1	NEDD8-activating enzyme E1 regulatory subunit isoform c
NM_001286500.2	NP_001273429.1	NEDD8-activating enzyme E1 regulatory subunit isoform d
NM_003905.4	NP_003896.1	NEDD8-activating enzyme E1 regulatory subunit isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to NEDD8 activating enzyme activity	IDA IDA: Inferred from direct assay	12740388	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8626687	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	12740388	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	18627766	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitotic DNA replication checkpoint signaling	IDA IDA: Inferred from direct assay	10722740	GOA
involved in neuron apoptotic process	IDA IDA: Inferred from direct assay	14557245	GOA
involved in protein neddylation	IDA IDA: Inferred from direct assay	10207026	GOA
involved in protein neddylation	IMP IMP: Inferred from mutant phenotype	36608681	GOA
involved in regulation of apoptotic process	IDA IDA: Inferred from direct assay	14557245	GOA
involved in regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	10722740	GOA
involved in regulation of neuron apoptotic process	IDA IDA: Inferred from direct assay	10722740	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	12740388	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NAE1 Protein Structure

ThiF

0
100
200
300
400
500
534 a.a.

Protein Preferred Names	Protein Names
NEDD8-activating enzyme E1 regulatory subunit	APP-BP1

NAE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NAE1	Q13564	HEXB	Homo sapiens	P07686	Y2H Array	32814053
Intra	NAE1	Q13564	HEXB	Homo sapiens	P07686	Y2H Pooling	32814053
Intra	NAE1	Q13564	HEXB	Homo sapiens	P07686	Validated Y2H	32814053
Intra	NAE1	Q13564	UBA3	Homo sapiens	Q8TBC4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

NAE1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82386	APPBP1 Antibody (YA2131)	WB, IP	Human
HY-P82386A	APPBP1 Antibody (YA2131)(PBS only)	WB, IP	Human

Related Diseases

Diseases	Alias
Exostoses, Multiple, Type I	Exostoses, Multiple, Type 1 EXT1 Multiple Cartilaginous Exostoses Diaphyseal Aclasis Multiple Osteochondromas Osteochondromatosis Hereditary Multiple Exostoses Bessel-Hagen Disease Exostoses, Multiple Ext Hereditary Multiple Osteochondromas Hmo Hereditary Multiple Exostosis Multiple Exostoses Hereditary Multiple Exostoses 1 Osteochondromas, Multiple Enchondromatosis Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency Ext1/Ext2-Cdg Multiple Congenital Exostoses

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133558	VII-31		99.63%	Unkown
HY-161268	NAE-IN-1		99.75%	Unkown
HY-RS09007	NAE1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS17023	Nae1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23466	Nae1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NAE1	VGNC	VGNC:67883
Rattus norvegicus	NAE1	RGD	RGD:619945
Mus musculus	NAE1	MGD	MGI:2384561
Canis familiaris	NAE1	VGNC	VGNC:43607
Bos taurus	NAE1	VGNC	VGNC:31866
Macaca mulatta	NAE1	VGNC	VGNC:75064
Others	NAE1	NCBI