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NAE1 NEDD8 activating enzyme E1 subunit 1 [ Homo sapiens (human) ]

Gene ID: 8883, updated on 3-Jan-2019

Summary

Official Symbol
NAE1provided by HGNC
Official Full Name
NEDD8 activating enzyme E1 subunit 1provided by HGNC
Primary source
HGNC:HGNC:621
See related
Ensembl:ENSG00000159593 MIM:603385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPP1; ula-1; APPBP1; A-116A10.1
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]
Expression
Ubiquitous expression in testis (RPKM 28.1), thyroid (RPKM 17.4) and 25 other tissues See more
Orthologs

Genomic context

See NAE1 in Genome Data Viewer
Location:
16q22.1
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (66802878..66830977, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66836781..66864880, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 light intermediate chain 2 Neighboring gene uncharacterized LOC106699570 Neighboring gene telomere repeat binding bouquet formation protein 1 Neighboring gene carbonic anhydrase 7 Neighboring gene pyruvate dehyrogenase phosphatase catalytic subunit 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu depends on NAE1-mediated neddylation (covalent addition of NEDD8 protein onto cullin backbone lysine residue rendering the cullin-RING E3 ubiquitin ligase complex catalytically active) to downregulate CD4 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NEDD8 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to NEDD8 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitotic DNA replication checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein neddylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein neddylation IDA
Inferred from Direct Assay
more info
PubMed 
protein neddylation IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NEDD8-activating enzyme E1 regulatory subunit
Names
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, 59kD
amyloid protein-binding protein 1
proto-oncogene protein 1
protooncogene protein 1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001018159.1NP_001018169.1  NEDD8-activating enzyme E1 regulatory subunit isoform b

    See identical proteins and their annotated locations for NP_001018169.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC000480, BM045535, BM785899
    Consensus CDS
    CCDS42171.1
    UniProtKB/Swiss-Prot
    Q13564
    Related
    ENSP00000368776.2, ENST00000379463.6
    Conserved Domains (2) summary
    COG0476
    Location:12187
    ThiF; Molybdopterin or thiamine biosynthesis adenylyltransferase [Coenzyme transport and metabolism]
    cd01493
    Location:12526
    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 ...
  2. NM_001018160.1NP_001018170.1  NEDD8-activating enzyme E1 regulatory subunit isoform c

    See identical proteins and their annotated locations for NP_001018170.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    BC000480, BM785899
    Consensus CDS
    CCDS42172.1
    UniProtKB/Swiss-Prot
    Q13564
    Related
    ENSP00000377637.2, ENST00000394074.6
    Conserved Domains (1) summary
    cd01493
    Location:1443
    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 ...
  3. NM_001286500.1NP_001273429.1  NEDD8-activating enzyme E1 regulatory subunit isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini but contains an additional 3 aa compared to variant 1.
    Source sequence(s)
    AK097680, U50939
    Consensus CDS
    CCDS67050.1
    UniProtKB/Swiss-Prot
    Q13564
    Related
    ENSP00000351990.4, ENST00000359087.8
    Conserved Domains (2) summary
    COG0476
    Location:9196
    ThiF; Molybdopterin or thiamine biosynthesis adenylyltransferase [Coenzyme transport and metabolism]
    cd01493
    Location:11535
    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 ...
  4. NM_003905.4NP_003896.1  NEDD8-activating enzyme E1 regulatory subunit isoform a

    See identical proteins and their annotated locations for NP_003896.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (a).
    Source sequence(s)
    BC000480, BM785899
    Consensus CDS
    CCDS10820.1
    UniProtKB/Swiss-Prot
    Q13564
    Related
    ENSP00000290810.3, ENST00000290810.7
    Conserved Domains (1) summary
    cd01493
    Location:11532
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    66802878..66830977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256215.1XP_005256272.1  NEDD8-activating enzyme E1 regulatory subunit isoform X1

    See identical proteins and their annotated locations for XP_005256272.1

    UniProtKB/Swiss-Prot
    Q13564
    Conserved Domains (1) summary
    cd01493
    Location:1443
    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 ...
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