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NUP54 (nucleoporin 54kDa)

Identity

Alias_namesnucleoporin 54kDa
Other alias-
HGNC (Hugo) NUP54
LocusID (NCBI) 53371
Atlas_Id 47298
Location 4q21.1  [Link to chromosome band 4q21]
Location_base_pair Starts at 77035812 and ends at 77069668 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ART3 (4q21.1) / NUP54 (4q21.1)DENND5B (12p11.21) / NUP54 (4q21.1)ART3 4q21.1 / NUP54 4q21.1
DENND5B 12p11.21 / NUP54 4q21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NUP54   17359
Cards
Entrez_Gene (NCBI)NUP54  53371  nucleoporin 54kDa
Aliases
GeneCards (Weizmann)NUP54
Ensembl hg19 (Hinxton)ENSG00000138750 [Gene_View]  chr4:77035812-77069668 [Contig_View]  NUP54 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138750 [Gene_View]  chr4:77035812-77069668 [Contig_View]  NUP54 [Vega]
ICGC DataPortalENSG00000138750
TCGA cBioPortalNUP54
AceView (NCBI)NUP54
Genatlas (Paris)NUP54
WikiGenes53371
SOURCE (Princeton)NUP54
Genetics Home Reference (NIH)NUP54
Genomic and cartography
GoldenPath hg19 (UCSC)NUP54  -     chr4:77035812-77069668 -  4q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NUP54  -     4q21.1   [Description]    (hg38-Dec_2013)
EnsemblNUP54 - 4q21.1 [CytoView hg19]  NUP54 - 4q21.1 [CytoView hg38]
Mapping of homologs : NCBINUP54 [Mapview hg19]  NUP54 [Mapview hg38]
OMIM607607   
Gene and transcription
Genbank (Entrez)AF157322 AI580839 AK001517 AK022106 AK222752
RefSeq transcript (Entrez)NM_001278603 NM_017426
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)NUP54
Cluster EST : UnigeneHs.430435 [ NCBI ]
CGAP (NCI)Hs.430435
Alternative Splicing GalleryENSG00000138750
Gene ExpressionNUP54 [ NCBI-GEO ]   NUP54 [ EBI - ARRAY_EXPRESS ]   NUP54 [ SEEK ]   NUP54 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53371
GTEX Portal (Tissue expression)NUP54
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z3B4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z3B4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z3B4
Splice isoforms : SwissVarQ7Z3B4
PhosPhoSitePlusQ7Z3B4
Domains : Interpro (EBI)Nup54/Nup57/Nup44    Nup54_alpha-helical_dom   
Domain families : Pfam (Sanger)Nup54 (PF13874)   
Domain families : Pfam (NCBI)pfam13874   
Conserved Domain (NCBI)NUP54
DMDM Disease mutations53371
Blocks (Seattle)NUP54
PDB (SRS)4JNU    4JNV    4JO7    4JO9   
PDB (PDBSum)4JNU    4JNV    4JO7    4JO9   
PDB (IMB)4JNU    4JNV    4JO7    4JO9   
PDB (RSDB)4JNU    4JNV    4JO7    4JO9   
Structural Biology KnowledgeBase4JNU    4JNV    4JO7    4JO9   
SCOP (Structural Classification of Proteins)4JNU    4JNV    4JO7    4JO9   
CATH (Classification of proteins structures)4JNU    4JNV    4JO7    4JO9   
SuperfamilyQ7Z3B4
Human Protein AtlasENSG00000138750
Peptide AtlasQ7Z3B4
HPRD06352
IPIIPI00386702   IPI00172580   IPI01019011   IPI00385666   IPI00966671   IPI00967185   IPI00967877   IPI00968095   IPI00967584   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z3B4
IntAct (EBI)Q7Z3B4
FunCoupENSG00000138750
BioGRIDNUP54
STRING (EMBL)NUP54
ZODIACNUP54
Ontologies - Pathways
QuickGOQ7Z3B4
Ontology : AmiGOnucleocytoplasmic transporter activity  protein binding  nuclear envelope  mRNA export from nucleus  tRNA export from nucleus  NLS-bearing protein import into nucleus  nuclear pore organization  mitotic nuclear envelope disassembly  regulation of glucose transport  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  gene silencing by RNA  nuclear membrane  protein targeting to nuclear inner membrane  regulation of protein import into nucleus  nuclear pore central transport channel  protein homooligomerization  protein heterotetramerization  protein heterotrimerization  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBInucleocytoplasmic transporter activity  protein binding  nuclear envelope  mRNA export from nucleus  tRNA export from nucleus  NLS-bearing protein import into nucleus  nuclear pore organization  mitotic nuclear envelope disassembly  regulation of glucose transport  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  gene silencing by RNA  nuclear membrane  protein targeting to nuclear inner membrane  regulation of protein import into nucleus  nuclear pore central transport channel  protein homooligomerization  protein heterotetramerization  protein heterotrimerization  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkNUP54
Atlas of Cancer Signalling NetworkNUP54
Wikipedia pathwaysNUP54
Orthology - Evolution
OrthoDB53371
GeneTree (enSembl)ENSG00000138750
Phylogenetic Trees/Animal Genes : TreeFamNUP54
HOVERGENQ7Z3B4
HOGENOMQ7Z3B4
Homologs : HomoloGeneNUP54
Homology/Alignments : Family Browser (UCSC)NUP54
Gene fusions - Rearrangements
Fusion : MitelmanART3/NUP54 [4q21.1/4q21.1]  [t(4;4)(q21;q21)]  
Fusion : MitelmanDENND5B/NUP54 [12p11.21/4q21.1]  [t(4;12)(q21;p11)]  
Fusion: TCGAART3 4q21.1 NUP54 4q21.1 LUSC
Fusion: TCGADENND5B 12p11.21 NUP54 4q21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP54
dbVarNUP54
ClinVarNUP54
1000_GenomesNUP54 
Exome Variant ServerNUP54
ExAC (Exome Aggregation Consortium)NUP54 (select the gene name)
Genetic variants : HAPMAP53371
Genomic Variants (DGV)NUP54 [DGVbeta]
DECIPHER (Syndromes)4:77035812-77069668  ENSG00000138750
CONAN: Copy Number AnalysisNUP54 
Mutations
ICGC Data PortalNUP54 
TCGA Data PortalNUP54 
Broad Tumor PortalNUP54
OASIS PortalNUP54 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUP54  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUP54
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NUP54
DgiDB (Drug Gene Interaction Database)NUP54
DoCM (Curated mutations)NUP54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP54 (select a term)
intoGenNUP54
Cancer3DNUP54(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607607   
Orphanet
MedgenNUP54
Genetic Testing Registry NUP54
NextProtQ7Z3B4 [Medical]
TSGene53371
GENETestsNUP54
Huge Navigator NUP54 [HugePedia]
snp3D : Map Gene to Disease53371
BioCentury BCIQNUP54
ClinGenNUP54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53371
Chemical/Pharm GKB GenePA31853
Clinical trialNUP54
Miscellaneous
canSAR (ICR)NUP54 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP54
EVEXNUP54
GoPubMedNUP54
iHOPNUP54
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:12:54 CEST 2017

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