Nae1 NEDD8 activating enzyme E1 subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nae1provided by MGI
Official Full Name: NEDD8 activating enzyme E1 subunit 1provided by MGI
Primary source: MGI:MGI:2384561
See related: Ensembl:ENSMUSG00000031878 AllianceGenome:MGI:2384561
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 59kDa; Appbp1
Summary: Predicted to enable protein heterodimerization activity and ubiquitin protein ligase binding activity. Predicted to contribute to NEDD8 activating enzyme activity. Involved in regulation of postsynapse assembly. Is active in glutamatergic synapse. Is expressed in central nervous system; heart; and retina. Orthologous to human NAE1 (NEDD8 activating enzyme E1 subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 19.2), CNS E14 (RPKM 18.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (105237660..105261269, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (104511028..104534656, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

APP-BP1 plays an important role in the cell cycle progression of fetal neural stem cells
Title: Amyloid precursor protein binding protein-1 modulates cell cycle progression in fetal neural stem cells.
Cerebral microvascular amyloid beta protein deposition induces vascular degeneration and neuroinflammation in transgenic mice expressing human vasculotropic mutant amyloid beta precursor protein
Title: Cerebral microvascular amyloid beta protein deposition induces vascular degeneration and neuroinflammation in transgenic mice expressing human vasculotropic mutant amyloid beta precursor protein.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NEDD8 activating enzyme activity	IEA Inferred from Electronic Annotation more info
contributes_to NEDD8 activating enzyme activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in mitotic DNA replication checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in mitotic DNA replication checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in protein neddylation	IEA Inferred from Electronic Annotation more info
involved_in protein neddylation	ISO Inferred from Sequence Orthology more info
involved_in protein neddylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NEDD8-activating enzyme E1 regulatory subunit

Names: APP-BP1; amyloid beta precursor protein binding protein 1, 59kDa; amyloid beta precursor protein-binding protein 1, 59 kDa; amyloid protein-binding protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001426349.1 → NP_001413278.1 NEDD8-activating enzyme E1 regulatory subunit isoform 2

Status: VALIDATED

Source sequence(s)

AC130543

UniProtKB/TrEMBL

E0CZE0

Related

ENSMUSP00000125456.2, ENSMUST00000162466.8
NM_144931.3 → NP_659180.1 NEDD8-activating enzyme E1 regulatory subunit isoform 1

See identical proteins and their annotated locations for NP_659180.1

Status: VALIDATED

Source sequence(s)

AC130543

Consensus CDS

CCDS40452.1

UniProtKB/Swiss-Prot

Q8CFL6, Q8VBW6

UniProtKB/TrEMBL

Q3UK27

Related

ENSMUSP00000034349.10, ENSMUST00000034349.10

Conserved Domains (2) summary

COG0476
Location:9 → 193

ThiF; Molybdopterin or thiamine biosynthesis adenylyltransferase [Coenzyme transport and metabolism]

cd01493
Location:11 → 532

APPBP1_RUB; Ubiquitin activating enzyme (E1) subunit APPBP1. APPBP1 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...