Official Symbol

NAE1provided by HGNC

Official Full Name

NEDD8 activating enzyme E1 subunit 1provided by HGNC

Primary source

HGNC:621

See related

Ensembl:ENSG00000159593; HPRD:04545; 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; NAE1

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]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 16; Location: 16q22See NAE1 in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

	1.	APP-BP1 is degraded by ubiquitin-dependent proteolysis.
	2.	Conservation in the mechanism of Nedd8 activation by the human AppBp1-Uba3 heterodimer.
	3.	structure and mutational analysis of human APPBP1-UBA3, the heterodimeric E1 enzyme for NEDD8
	4.	Data report the structure of the quaternary complex between human APPBP1-UBA3, a heterodimeric E1, its ubl NEDD8, and ATP.

Markers

Pathways

Homology

GeneOntology Provided by GOA

Preferred Names

NEDD8 activating enzyme E1 subunit 1

Names

NEDD8 activating enzyme E1 subunit 1

protooncogene protein 1

amyloid protein-binding protein 1

NEDD8-activating enzyme E1 subunit

amyloid beta precursor protein-binding protein 1, 59kD

amyloid beta precursor protein binding protein 1, 59kDa

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_001018159.1→NP_001018169.1 NEDD8 activating enzyme E1 subunit 1 isoform b

   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/TrEMBL

   A6NFN4

   UniProtKB/Swiss-Prot

   Q13564

   Conserved Domains (2) summary

   cd01493
   Location:12–393
   Blast Score:1552

   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...

   cl00287
   Location:443–526
   Blast Score:213

   E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common...

2. NM_001018160.1→NP_001018170.1 NEDD8 activating enzyme E1 subunit 1 isoform c

   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/TrEMBL

   A8MU28

   UniProtKB/Swiss-Prot

   Q13564

   Conserved Domains (2) summary

   cd01493
   Location:1–310
   Blast Score:1201

   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...

   cl00287
   Location:360–443
   Blast Score:212

   E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common...

3. NM_003905.3→NP_003896.1 NEDD8 activating enzyme E1 subunit 1 isoform a

   Description

   Transcript Variant: This variant (1) encodes the longest and predominant isoform (a).

   Source sequence(s)

   BC000480,BM785899

   Consensus CDS

   CCDS10820.1

   UniProtKB/TrEMBL

   B2R700

   UniProtKB/Swiss-Prot

   Q13564

   Conserved Domains (2) summary

   cd01493
   Location:11–399
   Blast Score:1597

   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...

   cl00287
   Location:449–532
   Blast Score:213

   E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common...

RefSeqs of Annotated Genomes: Build 37.1

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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000016.9 Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

   Range

   66864879..66836781, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NT_010498.15

   Range

   20479078..20450980, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000059.1 Alternate assembly (Celera)

   Range

   51373189..51345091, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_926462.1

   Range

   20437988..20409890, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000148.1 Alternate assembly (HuRef)

   Range

   52739089..52710930, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_001838290.1

   Range

   11025994..10997835, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

• MIM 603385
• HPRD 04545
• UCSC UCSC
• UniGene Hs.460978