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

Gene ID: 8883, updated on 3-Nov-2024

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; AllianceGenome:HGNC:621
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; NEDFIH; 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
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Genomic context

See NAE1 in Genome Data Viewer
Location:
16q22.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66802878..66830976, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72597172..72625270, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66836781..66864879, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 light intermediate chain 2 Neighboring gene MPRA-validated peak2616 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66785153-66785868 Neighboring gene DYNC1LI2 divergent transcript Neighboring gene telomere repeat binding bouquet formation protein 1 Neighboring gene MPRA-validated peak2617 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66864603-66865103 Neighboring gene uncharacterized LOC124903699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66878245-66878746 Neighboring gene MPRA-validated peak2618 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr16:66898937-66899130 Neighboring gene carbonic anhydrase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66914460-66915232 Neighboring gene pyruvate dehydrogenase phosphatase catalytic subunit 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to NEDD8 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to NEDD8 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
part_of 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)

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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)

  1. NM_001018159.2NP_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_001018160.2NP_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_001286500.2NP_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
    A6NCK0, A6NFN4, A8MU28, B2R700, B3KUP9, Q13564
    Related
    ENSP00000290810.3, ENST00000290810.8
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    66802878..66830976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434835.1XP_047290791.1  NEDD8-activating enzyme E1 regulatory subunit isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    72597172..72625270 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314261.1XP_054170236.1  NEDD8-activating enzyme E1 regulatory subunit isoform X1