• Gene id: 53371

Gene Summary

• Gene Symbol: NUP54   Gene   UCSC   Ensembl
• Gene name: nucleoporin 54
• Alternate names: nucleoporin p54, 54 kDa nucleoporin, nucleoporin 54kD, nucleoporin 54kDa,
• Gene location: 4q21.1 (76148514: 76114658)     Exons: 14     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 607607

Protein Summary

• Protein general information: Q7Z3B4  
  • Name: Nucleoporin p54 (54 kDa nucleoporin)
  • Length: 507  
  • Mass: 55435
• Sequence:

  MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKGFGFGTGFGTTTGTST
  GLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINTASALSAPTLLGDERDAILAKWNQLQAFWGT
  GKGYFNNNIPPVEFTQENPFCRFKAVGYSCMPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTV
  NVEGTKTLPDDQTEVVIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNP
  PAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISELQKNQTTSVAKIAQY
  KRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGELNAPTQFKGRLNELMSQIRMQNHFGAVRSE
  ERYYIDADLLREIKQHLKQQQEGLSHLISIIKDDLEDIKLVEHGLNETIHIRGGVFS

• Structural information:
  • Interpro: IPR024864  IPR025712  IPR040985  
  • PDB: 4JNU 4JNV 4JO7 4JO9 5IJN 5IJO
  • PDBsum: 4JNU 4JNV 4JO7 4JO9 5IJN 5IJO
  • STRING: ENSP00000264883
• Other Databases: GeneCards:  NUP54  Malacards:  NUP54

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044613	nuclear pore central transport channel	IBA	cellular component
GO:0017056	structural constituent of nuclear pore	IBA	molecular function
GO:0006607	NLS-bearing protein import into nucleus	IBA	biological process
GO:0036228	protein localization to nuclear inner membrane	IBA	biological process
GO:0006999	nuclear pore organization	IBA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0005643	nuclear pore	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006409	tRNA export from nucleus	TAS	biological process
GO:0016032	viral process	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0019083	viral transcription	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0006605	protein targeting	IEA	biological process
GO:0017056	structural constituent of nuclear pore	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0042306	regulation of protein import into nucleus	IEA	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0006913	nucleocytoplasmic transport	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0043657	host cell	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881