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

    Gene ID: 8883, updated on 10-Dec-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
    NEW
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    Try the new Transcript table

    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
    • 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 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
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    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)

    NEW Try the new Transcript table

    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