NUP54 (nucleoporin 54)

Gene

• Entrez ID: 53371
• Gene name: Nucleoporin 54
• Gene symbol: NUP54
• Synonyms (NCBI Gene): DYT37
• Chromosome: 4
• Chromosome location: 4q21.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016625	hsa-miR-484	Sequencing	20371350
MIRT030464	hsa-miR-24-3p	Sequencing	20371350
MIRT030464	hsa-miR-24-3p	Microarray	19748357
MIRT506351	hsa-miR-19a-3p	HITS-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	HITS-CLIP	21572407
MIRT506348	hsa-miR-455-5p	HITS-CLIP	21572407
MIRT506347	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT506345	hsa-miR-3973	HITS-CLIP	21572407
MIRT506344	hsa-miR-1279	HITS-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	HITS-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	HITS-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	HITS-CLIP	21572407
MIRT506340	hsa-miR-527	HITS-CLIP	21572407
MIRT506339	hsa-miR-4273	HITS-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	HITS-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	HITS-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	HITS-CLIP	21572407
MIRT506335	hsa-miR-375	HITS-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	HITS-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT506348	hsa-miR-455-5p	PAR-CLIP	20371350
MIRT506347	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT506345	hsa-miR-3973	PAR-CLIP	20371350
MIRT506344	hsa-miR-1279	PAR-CLIP	20371350
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT506340	hsa-miR-527	PAR-CLIP	20371350
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT506348	hsa-miR-455-5p	PAR-CLIP	20371350
MIRT506347	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT506345	hsa-miR-3973	PAR-CLIP	20371350
MIRT506344	hsa-miR-1279	PAR-CLIP	20371350
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT506340	hsa-miR-527	PAR-CLIP	20371350
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT506348	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT506346	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT506347	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT506345	hsa-miR-3973	PAR-CLIP	21572407
MIRT506344	hsa-miR-1279	PAR-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT506340	hsa-miR-527	PAR-CLIP	21572407
MIRT506339	hsa-miR-4273	PAR-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT506335	hsa-miR-375	PAR-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT506348	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT506347	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT506345	hsa-miR-3973	PAR-CLIP	21572407
MIRT506344	hsa-miR-1279	PAR-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT506340	hsa-miR-527	PAR-CLIP	21572407
MIRT506339	hsa-miR-4273	PAR-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT506335	hsa-miR-375	PAR-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT506349	hsa-miR-890	PAR-CLIP	23446348
MIRT506348	hsa-miR-455-5p	PAR-CLIP	23446348
MIRT506346	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT506347	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT506345	hsa-miR-3973	PAR-CLIP	23446348
MIRT506344	hsa-miR-1279	PAR-CLIP	23446348
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	23446348
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT506340	hsa-miR-527	PAR-CLIP	23446348
MIRT506339	hsa-miR-4273	PAR-CLIP	23446348
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	23446348
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	23446348
MIRT506335	hsa-miR-375	PAR-CLIP	23446348
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	23446348
MIRT495300	hsa-miR-4762-5p	PAR-CLIP	23708386
MIRT495299	hsa-miR-519d-5p	PAR-CLIP	23708386
MIRT495298	hsa-miR-5695	PAR-CLIP	23708386
MIRT495297	hsa-miR-4480	PAR-CLIP	23708386
MIRT495296	hsa-miR-515-5p	PAR-CLIP	23708386
MIRT495295	hsa-miR-519e-5p	PAR-CLIP	23708386
MIRT506351	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT506350	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT506351	hsa-miR-19a-3p	HITS-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	HITS-CLIP	21572407
MIRT506348	hsa-miR-455-5p	HITS-CLIP	21572407
MIRT506347	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT506345	hsa-miR-3973	HITS-CLIP	21572407
MIRT506344	hsa-miR-1279	HITS-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	HITS-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	HITS-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	HITS-CLIP	21572407
MIRT506340	hsa-miR-527	HITS-CLIP	21572407
MIRT506339	hsa-miR-4273	HITS-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	HITS-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	HITS-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	HITS-CLIP	21572407
MIRT506335	hsa-miR-375	HITS-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	HITS-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT506348	hsa-miR-455-5p	PAR-CLIP	20371350
MIRT506347	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT506345	hsa-miR-3973	PAR-CLIP	20371350
MIRT506344	hsa-miR-1279	PAR-CLIP	20371350
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT506340	hsa-miR-527	PAR-CLIP	20371350
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT506348	hsa-miR-455-5p	PAR-CLIP	20371350
MIRT506347	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT506345	hsa-miR-3973	PAR-CLIP	20371350
MIRT506344	hsa-miR-1279	PAR-CLIP	20371350
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT506340	hsa-miR-527	PAR-CLIP	20371350
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT506348	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT506346	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT506347	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT506345	hsa-miR-3973	PAR-CLIP	21572407
MIRT506344	hsa-miR-1279	PAR-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT506340	hsa-miR-527	PAR-CLIP	21572407
MIRT506339	hsa-miR-4273	PAR-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT506335	hsa-miR-375	PAR-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT506348	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT506347	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT506345	hsa-miR-3973	PAR-CLIP	21572407
MIRT506344	hsa-miR-1279	PAR-CLIP	21572407
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT506340	hsa-miR-527	PAR-CLIP	21572407
MIRT506339	hsa-miR-4273	PAR-CLIP	21572407
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	21572407
MIRT506335	hsa-miR-375	PAR-CLIP	21572407
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT506351	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT506350	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT506349	hsa-miR-890	PAR-CLIP	23446348
MIRT506348	hsa-miR-455-5p	PAR-CLIP	23446348
MIRT506346	hsa-miR-4699-3p	PAR-CLIP	23446348
MIRT506347	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT506345	hsa-miR-3973	PAR-CLIP	23446348
MIRT506344	hsa-miR-1279	PAR-CLIP	23446348
MIRT506343	hsa-miR-376a-2-5p	PAR-CLIP	23446348
MIRT506342	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT506341	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT506340	hsa-miR-527	PAR-CLIP	23446348
MIRT506339	hsa-miR-4273	PAR-CLIP	23446348
MIRT506338	hsa-miR-7156-5p	PAR-CLIP	23446348
MIRT506337	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT506336	hsa-miR-4652-3p	PAR-CLIP	23446348
MIRT506335	hsa-miR-375	PAR-CLIP	23446348
MIRT506334	hsa-miR-6739-3p	PAR-CLIP	23446348
MIRT495300	hsa-miR-4762-5p	PAR-CLIP	23708386
MIRT495299	hsa-miR-519d-5p	PAR-CLIP	23708386
MIRT495298	hsa-miR-5695	PAR-CLIP	23708386
MIRT495297	hsa-miR-4480	PAR-CLIP	23708386
MIRT495296	hsa-miR-515-5p	PAR-CLIP	23708386
MIRT495295	hsa-miR-519e-5p	PAR-CLIP	23708386
MIRT1199676	hsa-miR-1290	CLIP-seq
MIRT1199677	hsa-miR-1298	CLIP-seq
MIRT1199678	hsa-miR-1470	CLIP-seq
MIRT1199679	hsa-miR-19a	CLIP-seq
MIRT1199680	hsa-miR-19b	CLIP-seq
MIRT1199681	hsa-miR-3140-3p	CLIP-seq
MIRT1199682	hsa-miR-3167	CLIP-seq
MIRT1199683	hsa-miR-4446-5p	CLIP-seq
MIRT1199684	hsa-miR-4476	CLIP-seq
MIRT1199685	hsa-miR-4477b	CLIP-seq
MIRT1199686	hsa-miR-4502	CLIP-seq
MIRT1199687	hsa-miR-4667-3p	CLIP-seq
MIRT1199688	hsa-miR-4716-5p	CLIP-seq
MIRT1199689	hsa-miR-4755-5p	CLIP-seq
MIRT1199690	hsa-miR-493	CLIP-seq
MIRT1199691	hsa-miR-642a	CLIP-seq
MIRT1199692	hsa-miR-876-5p	CLIP-seq
MIRT1199693	hsa-miR-944	CLIP-seq
MIRT2057862	hsa-miR-219-2-3p	CLIP-seq
MIRT2057863	hsa-miR-3155	CLIP-seq
MIRT2057864	hsa-miR-3155b	CLIP-seq
MIRT2057865	hsa-miR-3177-5p	CLIP-seq
MIRT2057866	hsa-miR-4438	CLIP-seq
MIRT1199683	hsa-miR-4446-5p	CLIP-seq
MIRT2057867	hsa-miR-4729	CLIP-seq
MIRT1199689	hsa-miR-4755-5p	CLIP-seq
MIRT2057868	hsa-miR-5095	CLIP-seq
MIRT2057869	hsa-miR-513c	CLIP-seq
MIRT2057870	hsa-miR-514b-5p	CLIP-seq
MIRT2057871	hsa-miR-582-3p	CLIP-seq
MIRT2057872	hsa-miR-888	CLIP-seq
MIRT1199678	hsa-miR-1470	CLIP-seq
MIRT1199679	hsa-miR-19a	CLIP-seq
MIRT1199680	hsa-miR-19b	CLIP-seq
MIRT1199683	hsa-miR-4446-5p	CLIP-seq
MIRT1199687	hsa-miR-4667-3p	CLIP-seq
MIRT1199688	hsa-miR-4716-5p	CLIP-seq
MIRT1199689	hsa-miR-4755-5p	CLIP-seq
MIRT1199691	hsa-miR-642a	CLIP-seq
MIRT1199693	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 21994455, 25416956, 26496610, 27194810, 30021884, 31413325, 31515488, 32296183, 32353859, 32814053, 33060197, 33961781, 35271311, 36217030
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0006607	Process	NLS-bearing protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006999	Process	Nuclear pore organization	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0031965	Component	Nuclear membrane	IEA
GO:0036228	Process	Protein localization to nuclear inner membrane	IBA
GO:0044613	Component	Nuclear pore central transport channel	IBA
GO:0051028	Process	MRNA transport	IEA

Other IDs

• MIM: 607607
• HGNC: 17359
• e!Ensembl: ENSG00000138750

Protein

• UniProt ID: Q7Z3B4
• Protein name: Nucleoporin p54 (54 kDa nucleoporin)
• Protein function: Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.
• PDB: 4JNU, 4JNV, 4JO7, 4JO9, 5IJN, 5IJO, 7N8R, 7PER, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13874	Nup54	300 → 438	Nucleoporin complex subunit 54	Domain
  PF18437	Nup54_C	453 → 491	Nup54 C-terminal interacting domain	Domain

• Sequence:

  MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKG
  FGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINT
  ASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSC
  MPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEV
  VIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNP
  PAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISE
  LQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGE
  LNAPTQFKGRLNELMSQIRMQNHFGAVRSEERYYIDADLLREIKQHLKQQQEGLSHLISI
  IKDDLEDIKLVEHGLNETIHIRGGVFS

• Sequence length: 507

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Dystonia 37, early-onset, with striatal lesions	Pathogenic	rs776306424, rs765028638, rs758229208	RCV003236960 RCV003236961 RCV003236962	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29986057		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20419844		★☆☆☆☆ Found in Text Mining only