Seroatlas · Human Serome Atlas

NUP54

Nucleoporin p54

Also known as: NUP54_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q7Z3B4
Gene
NUP54
Ensembl
ENSG00000138750
Chromosome
4
Canonical length
507 aa
Protein class
Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm

OverviewNCBI Gene

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

507 residues, UniProt reviewed canonical sequence.

>Q7Z3B4|NUP54
     1  MAFNFGAPSG TSGTAAATAA PAGGFGGFGT TSTTAGSAFS FSAPTNTGTT GLFGGTQNKG
    61  FGFGTGFGTT TGTSTGLGTG LGTGLGFGGF NTQQQQQTTL GGLFSQPTQA PTQSNQLINT
   121  ASALSAPTLL GDERDAILAK WNQLQAFWGT GKGYFNNNIP PVEFTQENPF CRFKAVGYSC
   181  MPSNKDEDGL VVLVFNKKET EIRSQQQQLV ESLHKVLGGN QTLTVNVEGT KTLPDDQTEV
   241  VIYVVERSPN GTSRRVPATT LYAHFEQANI KTQLQQLGVT LSMTRTELSP AQIKQLLQNP
   301  PAGVDPIIWE QAKVDNPDSE KLIPVPMVGF KELLRRLKVQ DQMTKQHQTR LDIISEDISE
   361  LQKNQTTSVA KIAQYKRKLM DLSHRTLQVL IKQEIQRKSG YAIQADEEQL RVQLDTIQGE
   421  LNAPTQFKGR LNELMSQIRM QNHFGAVRSE ERYYIDADLL REIKQHLKQQ QEGLSHLISI
   481  IKDDLEDIKL VEHGLNETIH IRGGVFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUP54 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 24 nTPM
  • ovary: 20 nTPM
  • bone marrow: 20 nTPM
  • breast: 20 nTPM
  • tonsil: 20 nTPM
  • placenta: 20 nTPM

Single-cell type

  • cardiomyocytes: 268 nCPM
  • sertoli cells: 149 nCPM
  • myonuclei: 148 nCPM
  • erythrocyte progenitors: 134 nCPM
  • oocytes: 106 nCPM
  • mast cells: 98 nCPM

Immune cell

  • NK-cell: 20 nTPM
  • MAIT T-cell: 16 nTPM
  • T-reg: 11 nTPM
  • memory CD4 T-cell: 11 nTPM
  • naive CD4 T-cell: 11 nTPM
  • naive CD8 T-cell: 11 nTPM

Brain region

  • cerebellum: 9 nTPM
  • white matter: 7.4 nTPM
  • cerebral cortex: 7.2 nTPM
  • choroid plexus: 7.1 nTPM
  • basal ganglia: 6.8 nTPM
  • medulla oblongata: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NUP54.

Disease | AllUniProt

Conditions NUP54 is implicated in, by any mechanism.

  • Dystonia 37, early-onset, with striatal lesions (DYT37) MIM:620427

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dystonia 37, early-onset, with striatal lesions

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)
0.45
gnomAD pLI
0.22
gnomAD missense Z
2.14
DepMap mean gene effect
-0.74
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

  • Nucleoporin Nup54/Nup57/Nup44
  • Nucleoporin Nup54, alpha-helical domain
  • Nup54, C-terminal interacting domain
  • Nucleoporin complex subunit 54
  • Nup54 C-terminal interacting domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NUP54 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 NUP54 as an antibody target. Whether an autoantibody or antibody against NUP54 could matter depends on whether native NUP54 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NUP54 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NUP54 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NUP54. 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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