Seroatlas · Human Serome Atlas

NAE1

NEDD8-activating enzyme E1 regulatory subunit

Also known as: APP-BP1, APPBP1, ula-1, ULA1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13564
Gene
NAE1
Ensembl
ENSG00000159593
Chromosome
16
Canonical length
534 aa
Protein class
Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Microtubules,Centrosome

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

534 residues, UniProt reviewed canonical sequence.

>Q13564|NAE1
     1  MAQLGKLLKE QKYDRQLRLW GDHGQEALES AHVCLINATA TGTEILKNLV LPGIGSFTII
    61  DGNQVSGEDA GNNFFLQRSS IGKNRAEAAM EFLQELNSDV SGSFVEESPE NLLDNDPSFF
   121  CRFTVVVATQ LPESTSLRLA DVLWNSQIPL LICRTYGLVG YMRIIIKEHP VIESHPDNAL
   181  EDLRLDKPFP ELREHFQSYD LDHMEKKDHS HTPWIVIIAK YLAQWYSETN GRIPKTYKEK
   241  EDFRDLIRQG ILKNENGAPE DEENFEEAIK NVNTALNTTQ IPSSIEDIFN DDRCINITKQ
   301  TPSFWILARA LKEFVAKEGQ GNLPVRGTIP DMIADSGKYI KLQNVYREKA KKDAAAVGNH
   361  VAKLLQSIGQ APESISEKEL KLLCSNSAFL RVVRCRSLAE EYGLDTINKD EIISSMDNPD
   421  NEIVLYLMLR AVDRFHKQQG RYPGVSNYQV EEDIGKLKSC LTGFLQEYGL SVMVKDDYVH
   481  EFCRYGAAEP HTIAAFLGGA AAQEVIKIIT KQFVIFNNTY IYSGMSQTSA TFQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • testis: 44 nTPM
  • parathyroid gland: 39 nTPM
  • bone marrow: 35 nTPM
  • skeletal muscle: 34 nTPM
  • rectum: 33 nTPM
  • epididymis: 33 nTPM

Single-cell type

  • differentiating spermatogonia: 236 nCPM
  • early primary spermatocytes: 214 nCPM
  • oocytes: 170 nCPM
  • undifferentiated spermatogonia: 162 nCPM
  • cytotrophoblasts: 129 nCPM
  • migrating cytotrophoblasts: 114 nCPM

Immune cell

  • MAIT T-cell: 35 nTPM
  • naive CD8 T-cell: 31 nTPM
  • naive CD4 T-cell: 31 nTPM
  • memory CD8 T-cell: 30 nTPM
  • memory CD4 T-cell: 29 nTPM
  • T-reg: 28 nTPM

Brain region

  • white matter: 35 nTPM
  • cerebellum: 32 nTPM
  • spinal cord: 30 nTPM
  • hypothalamus: 29 nTPM
  • medulla oblongata: 29 nTPM
  • pons: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAE1.

Disease | AllUniProt

Conditions NAE1 is implicated in, by any mechanism.

  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) MIM:620210

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 102 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.94
gnomAD pLI
0
gnomAD missense Z
1.09
DepMap mean gene effect
-0.61
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NAE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NAE1 as an antibody target. Whether an autoantibody or antibody against NAE1 could matter depends on whether native NAE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NAE1 is annotated at the cell surface, where native NAE1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NAE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NAE1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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