NAE1 - NEDD8 activating enzyme E1 subunit 1 Gene

Homo sapiens

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

Gene ID: 8883 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133558	VII-31	Activator	98.29%	Unkown
HY-RS09007	NAE1 Human Pre-designed siRNA Set A		/	Unkown
HY-161268	NAE-IN-1		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.