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NUP133 (nucleoporin 133)

Identity

Alias_namesnucleoporin 133kDa
Alias_symbol (synonym)FLJ10814
Other aliashNUP133
HGNC (Hugo) NUP133
LocusID (NCBI) 55746
Atlas_Id 47119
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 229441297 and ends at 229508341 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MUSK (9q31.3) / NUP133 (1q42.13)NUP133 (1q42.13) / CDH6 (5p13.3)NUP133 (1q42.13) / FAF1 (1p32.3)
SYT1 (12q21.2) / NUP133 (1q42.13)TBC1D31 (8q24.13) / NUP133 (1q42.13)NUP133 1q42.13 / CDH6 5p13.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;9)(q11;p12) PAX5/POM121


External links

Nomenclature
HGNC (Hugo)NUP133   18016
Cards
Entrez_Gene (NCBI)NUP133  55746  nucleoporin 133
AliaseshNUP133
GeneCards (Weizmann)NUP133
Ensembl hg19 (Hinxton)ENSG00000069248 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000069248 [Gene_View]  chr1:229441297-229508341 [Contig_View]  NUP133 [Vega]
ICGC DataPortalENSG00000069248
TCGA cBioPortalNUP133
AceView (NCBI)NUP133
Genatlas (Paris)NUP133
WikiGenes55746
SOURCE (Princeton)NUP133
Genetics Home Reference (NIH)NUP133
Genomic and cartography
GoldenPath hg38 (UCSC)NUP133  -     chr1:229441297-229508341 -  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUP133  -     1q42.13   [Description]    (hg19-Feb_2009)
EnsemblNUP133 - 1q42.13 [CytoView hg19]  NUP133 - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBINUP133 [Mapview hg19]  NUP133 [Mapview hg38]
OMIM607613   
Gene and transcription
Genbank (Entrez)AF052123 AK001676 AK001754 AK022572 AK092339
RefSeq transcript (Entrez)NM_018230
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUP133
Cluster EST : UnigeneHs.12457 [ NCBI ]
CGAP (NCI)Hs.12457
Alternative Splicing GalleryENSG00000069248
Gene ExpressionNUP133 [ NCBI-GEO ]   NUP133 [ EBI - ARRAY_EXPRESS ]   NUP133 [ SEEK ]   NUP133 [ MEM ]
Gene Expression Viewer (FireBrowse)NUP133 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55746
GTEX Portal (Tissue expression)NUP133
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUM0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUM0
Splice isoforms : SwissVarQ8WUM0
PhosPhoSitePlusQ8WUM0
Domains : Interpro (EBI)Nucleoporin_Nup133/Nup155_C    WD40/YVTN_repeat-like_dom   
Domain families : Pfam (Sanger)Nucleoporin_C (PF03177)   
Domain families : Pfam (NCBI)pfam03177   
Conserved Domain (NCBI)NUP133
DMDM Disease mutations55746
Blocks (Seattle)NUP133
PDB (SRS)1XKS    3CQC    3CQG    3I4R    5A9Q   
PDB (PDBSum)1XKS    3CQC    3CQG    3I4R    5A9Q   
PDB (IMB)1XKS    3CQC    3CQG    3I4R    5A9Q   
PDB (RSDB)1XKS    3CQC    3CQG    3I4R    5A9Q   
Structural Biology KnowledgeBase1XKS    3CQC    3CQG    3I4R    5A9Q   
SCOP (Structural Classification of Proteins)1XKS    3CQC    3CQG    3I4R    5A9Q   
CATH (Classification of proteins structures)1XKS    3CQC    3CQG    3I4R    5A9Q   
SuperfamilyQ8WUM0
Human Protein AtlasENSG00000069248
Peptide AtlasQ8WUM0
HPRD06354
IPIIPI00291200   IPI00514905   IPI01015229   IPI00641510   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUM0
IntAct (EBI)Q8WUM0
FunCoupENSG00000069248
BioGRIDNUP133
STRING (EMBL)NUP133
ZODIACNUP133
Ontologies - Pathways
QuickGOQ8WUM0
Ontology : AmiGOcondensed chromosome kinetochore  condensed chromosome outer kinetochore  transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery  nucleocytoplasmic transporter activity  protein binding  nuclear envelope  nuclear pore  cytosol  chromatin organization  regulation of transcription, DNA-templated  mRNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  nuclear pore organization  sister chromatid cohesion  mitotic nuclear envelope disassembly  regulation of glucose transport  membrane  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  neural tube development  neurogenesis  gene silencing by RNA  nuclear pore outer ring  nuclear pore outer ring  nuclear pore distribution  nuclear membrane  paraxial mesoderm development  somite development  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBIcondensed chromosome kinetochore  condensed chromosome outer kinetochore  transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery  nucleocytoplasmic transporter activity  protein binding  nuclear envelope  nuclear pore  cytosol  chromatin organization  regulation of transcription, DNA-templated  mRNA export from nucleus  mRNA export from nucleus  tRNA export from nucleus  protein import into nucleus  nuclear pore organization  sister chromatid cohesion  mitotic nuclear envelope disassembly  regulation of glucose transport  membrane  viral process  protein sumoylation  structural constituent of nuclear pore  viral transcription  neural tube development  neurogenesis  gene silencing by RNA  nuclear pore outer ring  nuclear pore outer ring  nuclear pore distribution  nuclear membrane  paraxial mesoderm development  somite development  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkNUP133
Atlas of Cancer Signalling NetworkNUP133
Wikipedia pathwaysNUP133
Orthology - Evolution
OrthoDB55746
GeneTree (enSembl)ENSG00000069248
Phylogenetic Trees/Animal Genes : TreeFamNUP133
HOVERGENQ8WUM0
HOGENOMQ8WUM0
Homologs : HomoloGeneNUP133
Homology/Alignments : Family Browser (UCSC)NUP133
Gene fusions - Rearrangements
Fusion : MitelmanNUP133/CDH6 [1q42.13/5p13.3]  
Fusion: TCGANUP133 1q42.13 CDH6 5p13.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUP133 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUP133
dbVarNUP133
ClinVarNUP133
1000_GenomesNUP133 
Exome Variant ServerNUP133
ExAC (Exome Aggregation Consortium)NUP133 (select the gene name)
Genetic variants : HAPMAP55746
Genomic Variants (DGV)NUP133 [DGVbeta]
DECIPHERNUP133 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUP133 
Mutations
ICGC Data PortalNUP133 
TCGA Data PortalNUP133 
Broad Tumor PortalNUP133
OASIS PortalNUP133 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUP133  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUP133
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
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch NUP133
DgiDB (Drug Gene Interaction Database)NUP133
DoCM (Curated mutations)NUP133 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUP133 (select a term)
intoGenNUP133
Cancer3DNUP133(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607613   
Orphanet
MedgenNUP133
Genetic Testing Registry NUP133
NextProtQ8WUM0 [Medical]
TSGene55746
GENETestsNUP133
Target ValidationNUP133
Huge Navigator NUP133 [HugePedia]
snp3D : Map Gene to Disease55746
BioCentury BCIQNUP133
ClinGenNUP133
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55746
Chemical/Pharm GKB GenePA31847
Clinical trialNUP133
Miscellaneous
canSAR (ICR)NUP133 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUP133
EVEXNUP133
GoPubMedNUP133
iHOPNUP133
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:47:40 CEST 2017

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